O responsável técnico é o Dr. Salmo Raskin. Graduado em medicina
pela Universidade Federal do Paraná (UFPR – 1987), fez especialização em Pediatria pela UFPR (1988-1989) e em Genética Médica pela Universidade de Vanderbilt, Nashville, Tennessee, EUA
(1990-1993). Mestrado em Genética pela Universidade Federal do Paraná – UFPR e Doutor em Genética também pela Universidade Federal do Paraná (1998-2002). Membro Titular da Sociedade Brasileira de Genética Médica – SBGM. Presidente Científico do
Departamento de Genética da Sociedade Brasileira de Pediatria. Foi Presidente por dois mandatos da Sociedade Brasileira de Genética
Médica. Médico geneticista do Hospital do Trabalhador/CAIF e do Hospital Nossa Senhora das Graças (HNSG). Tem experiência na área de Medicina, com ênfase em Genética Molecular e Genética Médica, atuando principalmente nos seguintes temas: diagnóstico molecular
e clínico de doenças genéticas. Autor de mais de 160 artigos
científicos em periódicos internacionais, um dos 10 seletos cientistas brasileiros que integram o Projeto Genoma Humano da Human
Genome Organization – HUGO, Organização Internacional de Pesquisa sobre o Genoma Humano.
Formação acadêmica e Titulação:
1997 a 2001 – Doutorado em Genética Universidade Federal do Paraná (UFPR) Brasil;
1990 a 1993 – Especialização em Genética Molecular Vanderbilt University, Nashville, Tennesse, Estados Unidos;
1988 a 1989 – Residência Médica em Pediatria Universidade Federal do Paraná (UFPR) Brasil;
1981 a 1987 – Graduação em Medicina Universidade Federal do Paraná (UFPR) Brasil.
Atuação Profissional:
2004-2019 – Universidade Positivo Pesquisador de Curso de Pós-Graduação stricto sensu a partir de Julho 2018;
Professor do Curso de Medicina;
2002-2019 – Pontifícia Universidade Católica do Paraná (PUCPR) Professor do Curso de Medicina;
2002-2019 – Faculdade Evangélica do Paraná (FEPAR)
Professor do Curso de Medicina;
Médico Geneticista nos Hospitais de Curitiba:
Hospital do Trabalhador/CAIF – 2018-2019;
Hospital Nossa Senhora das Graças (HNSG) – desde 2003;
Membro da: Sociedade Brasileira de Genética Médica (SBGM) – desde 2006;
Sociedade Brasileira de Pediatria (SBP) – desde 2002;
Um dos 10 seletos cientistas brasileiros que integram desde sua fundação o Projeto Genoma Humano da HUGO – Human Genome Organization – órgão internacional de pesquisa do genoma humano.
Autor de 160 artigos científicos em periódicos internacionais
O Dr Salmo tem:
– 3955 citações;
– Fator H de 28;
– Índice i10 de 78;
CAMARGO, CARLOS HENRIQUE FERREIRA; SILVA, ALINE K.C. PIVA; Munhoz, Renato
P.; Raskin, Salmo; TEIVE, HÉLIO AFONSO GHIZONI Spinocerebellar ataxia type 21 (TMEM240) with tremor and dystonia. European Journal of Neurology. , v.28, p.ene.14944 – , 2021. doi: 10.1111/ene.14944. Online ahead of print.. PMID: 34053174
Franklin GL, Camargo CHF, Meira AT, Pavanelli GM, Milano SS, Germiniani FB, Lima NSC, Raskin S, Barsottini OGP, Pedroso JL, Maggi FA, Tumas V, de Carvalho PM, de Oliveira AC, Braga B, Souza LC,
Guimarães RP, Piovesana LG, Lopes-Cendes ÍT, de Azevedo PC, França MC Jr, Martinez ARM, Teive HAG. Is Ataxia an Underestimated Symptom of Huntington’s Disease? Front Neurol. 2020 Nov
12;11:571843. doi: 10.3389/fneur.2020.571843. eCollection 2020.PMID: 33281707 leia o artigo na íntegra
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H,
AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin
S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM,
AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D,
Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Biallelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.Brain. 2021 Mar 25:awaa459. doi: 10.1093/brain/awaa459. Online ahead of print. PMID: 337644262 leia o artigo na íntegra
Linnenkamp BDW, Raskin S, Esposito SE, Herai RH. A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate. Mutat Res. 2020 Jul-Sep;785:108319. doi:
10.1016/j.mrrev.2020.108319. Epub 2020 Jun 5.PMID: 32800270 leia o artigo na íntegra
Raskin S.J Pediatr (Rio J). Genetics of COVID-19. 2020 Oct 7:S0021-7557(20)30211-4. doi:
10.1016/j.jped.2020.09.002. Online ahead of print.PMID: 33058776 Free PMC article. Review.
Konno KM, Zonta MB, Guimarães ATB, Camargo CHF, Munhoz RP, Raskin S, Ashizawa T, Teive HAG. Balance and physical functioning in Spinocerebellar ataxias 3 and 10. Acta Neurol Scand. 2020 Nov 29. doi: 10.1111/ane.13384. Online ahead of print.PMID: 33251611 leia o artigo na íntegra
Franklin GL, Camargo CHF, Meira AT, Pavanelli GM, Milano SS, Germiniani FB, Lima NSC, Raskin S,
Barsottini OGP, Pedroso JL, Maggi FA, Tumas V, de Carvalho PM, de Oliveira AC, Braga B, Souza LC,
Guimarães RP, Piovesana LG, Lopes-Cendes ÍT, de Azevedo PC, França MC Jr, Martinez ARM, Teive HAG. Is Ataxia an Underestimated Symptom of Huntington’s Disease? Front Neurol. 2020 Nov
12;11:571843. doi: 10.3389/fneur.2020.571843. eCollection 2020.PMID: 33281707 leia o artigo na íntegra
Pereira ER, Franklin GL, Raskin S, Teive HAG. Comment on: Diagnosis of Aicardi-Goutières Syndrome in Adults. Mov Disord Clin Pract. 2020 Apr 27;7(5):583-584. doi: 10.1002/mdc3.12958. eCollection
2020 Jul. PMID: 32626814
Alex Tiburtino Meira MD, MSca, Walter Oleschko Arruda MD, PhDa, Sergio Eiji Ono MD, MScb, Gustavo Leite Franklin MDa, Arnolfo de Carvalho Neto MD, PhDbc, Salmo Raskin MD PhDd, Tetsuo Ashizawa MDe, Carlos Henrique F. Camargo MD, PhDc, Hélio A. G. Teive MD PhD. Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients. Parkinsonism & Related Disorders. Volume 78, September 2020, Pages 73-78. doi: 10.1016/j.parkreldis.2020.06.460 .
Novis LE, Spitz M, Jardim M, Raskin S, Teive HAG. Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review. Arq Neuropsiquiatr. 2020 Jul 27. PMID:32725052; doi: 10.1590/0004-282×20200017.
Arruda WO, Meira AT, Ono SE, de Carvalho Neto A, Betting LEGG, Raskin S, Camargo CHF, Teive HAG. Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10)
Patients. Cerebellum. Maio 2020. PMID: 32367276; doi: 10.1007/s12311-020-01137-3.
Arruda WO, Meira AT, Ono SE, de Carvalho Neto A, Ferreira MG, Raskin S, Ferreira Camargo CH,
Ashizawa T, Ghizoni Teive HA. Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism Relat Disord. Mar 2020. PMID: 32199743; doi: 10.1016/j.parkreldis.2020.03.007 leia o artigo na íntegra
Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Ashizawa T, Teive HAG. Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families. Cerebellum. Out 2019. PMID: 31377949; doi: 10.1007/s12311-019-01064-y.
Meira, A.T.; Arruda, W.O.; Ono, S.E.; Neto, A.C.; Raskin, S.; Camargo, C.H.F.; Teive,
H.A.G. Neuroradiological Findings in the Spinocerebellar Ataxias. Tremor Other Hyperkinet Mov (N Y). 2019 Sep 26;9. PMID: 31632837. doi: 10.7916/tohm.v0.682 leia o artigo na íntegra
Nascimento FA, Rodrigues VOR, Pelloso FC, Camargo CHF, Moro A, Raskin S, Ashizawa T, Teive HAG. Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families.Clin Neurol Neurosurg. 2019 Sep;184:105427. doi: 10.1016/j.clineuro.2019.105427. Epub 2019 Jul 10.
PMID:31323545
Domingues, B.M.D.; Nascimento, F.A.; Meira, A.T.; Moro, A.; Raskin, S.; Ashizawa, T.; Teive, H.A.G.
Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families. Cerebellum. 2019 Aug 3. doi: 10.1007/s12311-019-01064-y.
Teive, H. A. G.; Camargo, C. H. F.; Raskin, S.; Munhoz, R. P.; Cardoso, F. E. C. Hyposkillia and spanophilia in the movement disorders rounds. Mov Disord. 2019 Jun 18. doi: 10.1002/mds.27735.
SILVA, GIULIA VILELA ; BONILHA, PATRICIA ; MORO, ADRIANA ; MUNHOZ, RENATO ; RASKIN, SALMO ; ASHIZAWA, TETSUO ; NASCIMENTO, FÁBIO A. ; TEIVE, HÉLIO A.G. . Spinocerebellar ataxias type 3 and 10: Onset and progression of ataxia during pregnancy and puerperium. PARKINSONISM & RELATED DISORDERS, Volume 52, Pages 119–120, 2018.
DOI: https://doi.org/10.1016/j.parkreldis.2018.03.025 leia o artigo na íntegra
Abagge Kt, Haupenthal F, Felber Gy, Raskin S. PIBIDS syndrome in two Brazilian siblings. BMJ Case
Rep. Dec 22;11(1), 2018. https://doi.org/10.1136/bcr–2017–223744 leia o artigo na íntegra
LONDON, ESTER ; CAMARGO, CARLOS H. F. ; ZANATTA, ALESSANDRA ; CRIPPA, ANA C. ; RASKIN, SALMO ; MUNHOZ, RENATO P. ; ASHIZAWA, TETSUO ; TEIVE, HÉLIO A. G. . Sleep disorders in spinocerebellar ataxia type 10. JOURNAL OF SLEEP RESEARCH, v. e12688, p. e12688,
Zanatta, A., Camargo, C.H.F., Germiniani, F.M.B. et al. Abnormal Findings in Polysomnographic
Recordings of Patients with Spinocerebellar Ataxia Type 2
(SCA2). Cerebellum, 2018. https://doi.org/10.1007/s12311–018–0982–x leia o artigo na íntegra
CATAI, L. M. P.; CAMARGO, C. H. F.; MORO, A.; RIBAS, G.; RASKIN, S.; TEIVE, H. A. G. Dystonia in Patients with Spinocerebellar Ataxia 3 – Machado-Joseph disease: An Underestimated Diagnosis? Open Neurol J. 2018 May 31. PMID: 30008965.
MOSCOVICH, MARIANA ; MUNHOZ, RENATO PUPPI ; MORO, ADRIANA ; RASKIN, SALMO ;
MCFARLAND, KAREN ; ASHIZAWA, TETSUO ; TEIVE, HELIO A. G. ; SILVEIRA-MORIYAMA, LAURA . Olfactory Function in SCA10. CEREBELLUM, 18: 85, 2018.
doi: https://doi.org/10.1007/s12311–018–0954–1 leia o artigo na íntegra
CHOI, JUNG-HWA JEONG, YUN-MI KIM, SUJIN LEE, BOYOUNG ARIYASIRI, KRISHAN KIM, HYUN-TAEK JUNG, SEUNG-HYUN HWANG, KYU-SEOK CHOI, TAE-IK PARK, CHUL O HUH,
WON-KI CARL, MATTHIAS ROSENFELD, JILL A. RASKIN, SALMO MA, ALAN GECZ, JOZEF
KIM, HYUNG-GOO KIM, JIN-SOO SHIN, HO-CHUL PARK, DOO-SANG GERLAI, ROBERT JAMIESON, BRADLEY B. KIM, JOON S. IREMONGER, KARL J. LEE, SANG H. , SHIN, HEE-SUP KIM, CHEOL-HEE ; Targeted knockout of a chemokine-like gene increases anxiety and fear responses. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES
OF AMERICA, 115 (5), 2018. doi: https://doi.org/10.1073/pnas.1707663115 leia o artigo na íntegra
DE SOUZA, D. A. S. ; FAUCZ, F. R. ; PEREIRA-FERRARI, L. ; SOTOMAIOR, V. S. ; RASKIN, S. . Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. Andrology, Volume 6, Issue 1, 2017.
doi: https://doi.org/10.1111/andr.12450 leia o artigo na íntegra
LIBERALESSO, PAULO BRENO NORONHA ; CORDEIRO, MARA L. ; KARUTA, SIMONE CARREIRO VIEIRA ; KOLADICZ, KARYN REGINA JORDÃO ; NITSCHE, ANDERSON ;
ZEIGELBOIM, BIANCA SIMONE ; RASKIN, SALMO ; RAUCHMAN, MICHAEL . Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new
SALL1 hotspot region nonsense mutation. BMC Medical Genetics, v. 18, p. 125, 2017. DOI: https://doi.org/10.1186/s12881–017–0483–7 leia o artigo na íntegra
GRABOWSKI, PAULO ANDRÉ PERA ; BELLO, ALEXANDRE FERREIRA ; RODRIGUES, DIOGO
LIMA ; FORBECI, MURILO JOSÉ ; MOTTER, VINICIUS ; RASKIN, SALMO . Deletion Involving the
7q31-32 Band at the CADPS2 Gene Locus in a Patient with Autism Spectrum Disorder and Recurrent Psychotic Syndrome Triggered by Stress. CASE REPORTS IN PSYCHIATRY (PRINT), v. 2017, p. 1-4, 2017. leia o artigo na íntegra
GOEMANS, NATHALIE MERCURI, EUGENIO BELOUSOVA, ELENA KOMAKI, HIROFUMI DUBROVSKY, ALBERTO MCDONALD, CRAIG M. KRAUS, JOHN E. LOURBAKOS, AFRODITE LIN, ZHENGNING CAMPION, GILES WANG, SUSANNE X. CAMPBELL, CRAIG ARAUJO, A.
BERTINI, E. BORN, P. CANCES, C. CHABROL, B. CHAE, J.-H. COLOMER OFERIL, J. COMI, G.P.
CUISSET, J.-M. D’ANJOU, G. DESGUERRE, I. ERAZO TORRICELLI, R. ESCOBAR, R. , FEDER, D.
FERLINI, A. GIUGLIANI, R. HENRICSON, E. HERCZEGFALVI, A. JONG, Y.-J. KIMURA, S.
KIRSCHNER, J.-B. KLEINSTEUBER, K. KOSTERA-PRUSZCZYK, A. KUDR, M. MUELLERFELBER, W. NIKS, E.H. OGATA, K. PALERMO, C. PANE, M. PASCUAL, I. PEREON, Y. RASKIN, S. RASMUSSEN, M. REED, U. SCHARA, U. SELBY, K. SOBREIRA, C. TAKESHIMA, Y. VILCHEZ PADILLA, J.J. VITA, G. VONDRACEK, P. WIEGAND, G. WILICHOWSKI, E. ; A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS, Volume 28, Issue 1, Pages 4–15, 2017.
DOI: https://doi.org/10.1016/j.nmd.2017.10.004 leia o artigo na íntegra
MORO, ADRIANA ; MUNHOZ, RENATO P. ; MOSCOVICH, MARIANA ; ARRUDA, WALTER O. ; RASKIN, SALMO ; SILVEIRA-MORIYAMA, LAURA ; ASHIZAWA, TETSUO ; TEIVE, HÉLIO A.
DE SOUZA, D. A. S. ; FAUCZ, F. R. ; DE ALEXANDRE, R. B. ; SANTANA, M. A. ; DE SOUZA, E. L. S. ; REIS, F. J. C. ; PEREIRA-FERRARI, L. ; SOTOMAIOR, V. S. ; CULPI, L. ; PHILLIPS, J. A. ; RASKIN, S. . Cystic fibrosis in Afro-Brazilians: XK haplotypes analysis supports the European origin of p.F508del mutation. Genetica (‘s-Gravenhage), v. 1, p. 1-10, 2017.
doi: https://doi.org/10.1007/s10709–016–9942–x leia o artigo na íntegra
RIBAS, D.I.R. ; ESCALIANTE, C.H. ; BORTOLI, C.G. ; DE OLIVEIRA, C.R.F. ; MIKAMI, L.R. ; RIEDI, C.A. ; RASKIN, S. ; ROSÁRIO FILHO, N.A. ; PEREIRA-FERRARI, L. . p.Phe508del , p.Gly542X , p.Arg1162X , p.Asn1303Lys , and p.Lys683serfsX38 mutations in CF newborn screening of Brazilian children. Clinical Genetics, v. 1, p. 1-2, 2017. doi: https://doi.org/10.1111/cge.12903
SCHOSSIG, ANNA ; BLOCH-ZUPAN, AGNÈS ; LUSSI, ADRIAN ; WOLF, NICOLE I ; RASKIN, SALMO ; COHEN, MONIKA ; GIULIANO, FABIENNE ; JURGENS, JULIE ; KRABICHLER, BIRGIT ; KOOLEN, DAVID A ; DE MACENA SOBREIRA, NARA LYGIA ; MAURER, ELISABETH ;
MULLER-BOLLA, MICHÈLE ; PENZIEN, JOHANN ; ZSCHOCKE, JOHANNES ; KAPFERERSEEBACHER, INES . SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. Journal of Medical Genetics (Print), v. 54, p. jmedgenet-2016-62, 2017. PMID: 27600704. doi: http://dx.doi.org/10.1136/jmedgenet–2016–103988 leia o artigo na íntegra
TEIVE, HÉLIO AFONSO GHIZONI ; CAMARGO, CARLOS HENRIQUE F. ; SATO, MARIO TERUO ; SHIOKAWA, NAOYE ; BOGUSZEWSKI, CESAR L. ; RASKIN, SALMO ; BUCK, CASSANDRA ;
SEMINARA, STEPHANIE B. ; MUNHOZ, RENATO PUPPI . Different Cerebellar Ataxia Phenotypes
Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive
Ataxias. CEREBELLUM, 17: 380. 2017. doi: https://doi.org/10.1007/s12311–017–0909–y leia o artigo na íntegra
REDIN, CLAIRE BRAND, HARRISON COLLINS, RYAN L KAMMIN, TAMMY MITCHELL, ELYSE HODGE, JENNELLE C HANSCOM, CARRIE PILLALAMARRI, VAMSEE SEABRA, CATARINA M ABBOTT, MARY-ALICE ABDUL-RAHMAN, OMAR A ABERG, ERIKA ADLEY, RHETT ALCARAZ-ESTRADA, SOFIA L ALKURAYA, FOWZAN S AN, YU ANDERSON, MARY-ANNE
ANTOLIK, CAROLINE ANYANE-YEBOA, KWAME ATKIN, JOAN F BARTELL, TINA BERNSTEIN, JONATHAN A BEYER, ELIZABETH BLUMENTHAL, IAN BONGERS, ERNIE M H F , BRILSTRA, EVA H BROWN, CHESTER W BRÜGGENWIRTH, HENNIE T CALLEWAERT, BERT CHIANG, COLBY CORNING, KEN COX, HELEN CUPPEN, EDWIN CURRALL, BENJAMIN B Cushing, Tom DAVID, DEZSO DEARDORFF, MATTHEW A DHEEDENE, ANNELIES D’HOOGHE, MARC DE VRIES, BERT B A EARL, DAWN L FERGUSON, HEATHER L FISHER, HEATHER FITZPATRICK, DAVID R GERROL, PAMELA GIACHINO, DANIELA GLESSNER, JOSEPH T
GLIEM, TROY GRADY, MARGO GRAHAM, BRETT H GRIFFIS, CRISTIN GRIPP, KAREN W GROPMAN, ANDREA L HANSON-KAHN, ANDREA HARRIS, DAVID J HAYDEN, MARK A HILL, ROSAMUND HOCHSTENBACH, RON HOFFMAN, JODI D HOPKIN, ROBERT J HUBSHMAN, MONIKA W INNES, A MICHEIL IRONS, MIRA IRVING, MELITA JACOBSEN, JESSIE C JANSSENS, SANDRA JEWETT, TAMISON JOHNSON, JOHN P JONGMANS, MARJOLIJN C KAHLER, STEPHEN G KOOLEN, DAVID A KORZELIUS, JEROME KROISEL, PETER M
LACASSIE, YVES LAWLESS, WILLIAM LEMYRE, EMMANUELLE LEPPIG, KATHLEEN LEVIN,
ALEX V LI, HAIBO LI, HONG LIAO, ERIC C LIM, CYNTHIA LOSE, EDWARD J LUCENTE, DIANE MACERA, MICHAEL J MANAVALAN, POORNIMA MANDRILE, GIORGIA MARCELIS, CARLO
L MARGOLIN, LAUREN MASON, TAMARA MASSER-FRYE, DIANE MCCLELLAN, MICHAEL W MENDOZA, CINTHYA J ZEPEDA MENTEN, BJÖRN MIDDELKAMP, SJORS MIKAMI, LIYA R MOE, EMILY MOHAMMED, SHEHLA MONONEN, TARJA MORTENSON, MEGAN E MOYA, GRACIELA NIEUWINT, AGGIE W ORDULU, ZEHRA PARKASH, SANDHYA PAUKER, SUSAN P PEREIRA, SHAHRIN PERRIN, DANIELLE PHELAN, KATY AGUILAR, RAUL E PIÑA PODDIGHE, PINO J PREGNO, GIULIA Raskin, Salmo REIS, LINDA RHEAD, WILLIAM RITA, DEBRA RENKENS, IVO ROELENS, FILIP RULIERA, JAYLA RUMP, PATRICK SCHILIT, SAMANTHA L P SHAHEEN, RANAD SPARKES, REBECCA SPIEGEL, ERICA STEVENS, BLAIR STONE, MATTHEW R TAGOE, JULIA THAKURIA, JOSEPH V VAN BON, BREGJE W VAN DE KAMP,
JIDDEKE VAN DER BURGT, INEKE VAN ESSEN, TON VAN RAVENSWAAIJ-ARTS, CONNY M VAN ROOSMALEN, MARKUS J VERGULT, SARAH VOLKER-TOUW, CATHARINA M L WARBURTON, DOROTHY P WATERMAN, MATTHEW J WILEY, SUSAN WILSON, ANNA
YERENA-DE VEGA, MARIA DE LA CONCEPCION A ZORI, ROBERTO T LEVY, BRYNN BRUNNER, HAN G DE LEEUW, NICOLE KLOOSTERMAN, WIGARD P THORLAND, ERIK C MORTON, CYNTHIA C GUSELLA, JAMES F TALKOWSKI, MICHAEL E ; The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. NATURE
GENETICS, v. 49, p. 36-45, 2016. doi:10.1038/ng.3720 leia o artigo na íntegra
SANTORO, EDUARDO ; PANDOLFO, HENRIQUE ; ROSENFELD, JILL ; RASKIN, SALMO . A 10.43Mb duplication of chromosome region 5q31.2-q32 associated with a general delay in psychomotor development. Meta Gene, v. 1, p. 1-1, 2016.
doi: https://doi.org/10.1016/j.mgene.2016.09.001 leia o artigo na íntegra
TEIVE, HÉLIO A. G. ; MORO, ADRIANA ; ARRUDA, WALTER O. ; RASKIN, SALMO ; TEIVE,
GLADYS M. G. ; DALABRIDA, NORBERTO ; MUNHOZ, RENATO P. . Itajaí, Santa Catarina –
Azorean ancestry and spinocerebellar ataxia type 3. Arquivos de Neuro-Psiquiatria (Online), v. 74, p.
858-860, 2016. doi: http://dx.doi.org/10.1590/0004–282×20160125 leia o artigo na íntegra
BARSOTTINI, O. G. P. ; MARTINS, P. D. M. ; CHIEN, H. F. ; RASKIN, S. ; NUNES, R. H. ; DA ROCHA, A. J. ; PEDROSO, J. L. . Familial striatal degeneration: New mutation and neuroimaging clues. Neurology (Cleveland, Ohio), v. 85, p. 1816-1818, 2015.
DOI: https://doi.org/10.1212/WNL.0000000000002128
BOURASSA, CYNTHIA V. ; RASKIN, SALMO ; SERAFINI, SÉRGIO ; TEIVE, HÉLIO A. G. ; DION,
PATRICK A. ; ROULEAU, GUY A. . A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia. JAMA neurology, v. 72, p. 942-943, 2015. PMID: 26258735. doi:
10.1001/jamaneurol.2015.0888 leia o artigo na íntegra
DOS SANTOS, LÚCIA H. COUTINHO ; DE CARVALHO NETO, ARNOLFO ; RASKIN, SALMO ; BRUCK, ISAC . JUVENILE HUNTINGTON DISEASE Pediatric neurologist: look at the neuroimage. Pediatric Neurology, v. 4, p. 231-234, 2015.
DOI: https://doi.org/10.1016/j.pediatrneurol.2015.07.009 leia o artigo na íntegra
ROJNUEANGNIT, KITIWAN XIE, JING GOMES, ALICIA SHARP, ANGELA CALLENS, TOM
CHEN, YUNJIA LIU, YING COCHRAN, MEAGAN ABBOTT, MARY-ALICE ATKIN, JOAN BABOVIC-VUKSANOVIC, DUSICA BARNETT, CHRISTOPHER P. CRENSHAW, MELISSA BARTHOLOMEW, DENNIS W. BASEL, LINA BELLUS, GARY BEN-SHACHAR, SHAY BIALER, MARTIN G. BICK, DAVID BLUMBERG, BRUCE CORTES, FANNY DAVID, KAREN L. DESTREE, ANNE DUAT-RODRIGUEZ, ANNA EARL, DAWN , ESCOBAR, LUIS ESWARA, MARTHANDA EZQUIETA, BEGONA FRAYLING, IAN M. FRYDMAN, MOSHE GARDNER, KATHY GRIPP, KAREN W. HERNÁNDEZ-CHICO, CONCEPCION HEYRMAN, KURT IBRAHIM, JENNIFER JANSSENS, SANDRA KEENA, BETH A LLANO-RIVAS, ISABEL LEPPIG, KATHY MCDONALD, MARIE MISRA, VINOD K. MULBURY, JENNIFER NARAYANAN, VINODH ORENSTEIN,
NAAMA GALVIN-PARTON, PATRICIA PEDRO, HELIO PIVNICK, ENIKO K. POWELL, CYNTHIA M. RANDOLPH, LINDA Raskin, Salmo ROSELL, JORDI RUBIN, KAROL SEASHORE, MARGRETTA SCHAAF, CHRISTIAN P. SCHEUERLE, ANGELA SCHULTZ, MEREDITH SCHORRY, ELIZABETH SCHNUR, RHONDA SIQVELAND, ELIZABETH TKACHUK, AMANDA TONSGARD, JAMES UPADHYAYA, MEENA VERMA, ISHWAR C. WALLACE, STEPHANIE WILLIAMS, CHARLES ZACKAI, ELAINE ZONANA, JONATHAN LAZARO, CONXI CLAES,
KATHLEEN KORF, BRUCE MARTIN, YOLANDA LEGIUS, ERIC MESSIAEN, LUDWINE ; High
Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Human
Mutation, v. 36, p. n/a-n/a, 2015. doi: https://doi.org/10.1002/humu.22832 leia o artigo na íntegra
VIEIRA KARUTA, SIMONE CARREIRO ; RASKIN, SALMO ; DE CARVALHO NETO, ARNOLFO ; GASPARETTO, EMERSON LEANDRO ; DORING, THOMAS ; TEIVE, HELIO AFONSO GHIZONI . Diffusion Tensor Imaging and Tract-Based Spatial Statistics Analysis in Friedreich’s Ataxia
Patients. Parkinsonism & Related Disorders, v. n/a, p. n/a-n/a, 2015.
DOI: https://doi.org/10.1016/j.parkreldis.2015.02.021 leia o artigo na íntegra
TEIVE, HÉLIO A.G. ; MORO, ADRIANA ; MOSCOVICH, MARIANA ; ARRUDA, WALTER O. ; MUNHOZ, RENATO P. ; RASKIN, SALMO ; ASHIZAWA, TETSUO . Ataxia-telangiectasia – A historical review and a proposal for a new designation: ATM syndrome. Journal of the Neurological
Sciences, v. 355, p. 3-6, 2015. DOI: https://doi.org/10.1016/j.jns.2015.05.022 leia o artigo na íntegra
TEIVE, HÉLIO AFONSO GHIZONI ; MORO, ADRIANA ; MOSCOVICH, MARIANA ; ARRUDA, WALTER OLESKHO ; MUNHOZ, RENATO PUPPI ; RASKIN, SALMO ; TEIVE, GLADYS MARY GHIZONI ; DALLABRIDA, NORBERTO ; ASHIZAWA, TETSUO . Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection. Arquivos de Neuro-Psiquiatria (Online), v.
73, p. 725-727, 2015. DOI: http://dx.doi.org/10.1590/0004–282X20150086 leia o artigo na íntegra
NEVADO, JULIÁN ROSENFELD, JILL A MENA, ROCÍO PALOMARES-BRALO, MARÍA
VALLESPÍN, ELENA ÁNGELES MORI, MARÍA TENORIO, JAIR A GRIPP, KAREN W
DENENBERG, ELIZABETH DEL CAMPO, MIGUEL PLAJA, ALBERTO MARTÍN-ARENAS,
RUBÉN SANTOS-SIMARRO, FERNANDO ARMENGOL, LLUIS GOWANS, GORDON ORERA,
MARÍA SANCHEZ-HOMBRE, M CARMEN CORBACHO-FERNÁNDEZ, ESTHER FERNÁNDEZJAÉN, ALBERTO HALDEMAN-ENGLERT, CHAD SAITTA, SULAGNA DUBBS, HOLLY BÉNÉDICTE, DUBAN B LI, XIA DEVANEY, LANI , DINULOS, MARY BETH VALLEE, STEPHANIE CRESPO, M CARMEN FERNÁNDEZ, BLANCA FERNÁNDEZ-MONTAÑO, VICTORIA E RUEDA-ARENAS, INMACULADA DE TORRES, MARÍA LUISA ELLISON, JAY W
RASKIN, SALMO VENEGAS-VEGA, CARLOS A FERNÁNDEZ-RAMÍREZ, FERNANDO
DELICADO, ALICIA GARCÍA-MIÑAÚR, SIXTO LAPUNZINA, PABLO ; PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. European Journal of Human Genetics, v. n/a, p. n/a-n/a, 2015. doi:10.1038/ejhg.2015.51 leia o artigo na íntegra
PEDROSO, JOSÉ LUIZ ; ABRAHAO, AGESSANDRO ; ISHIKAWA, KINYA ; RASKIN, SALMO ; DE
SOUZA, PAULO VICTOR SGOBBI ; DE REZENDE PINTO, WLADIMIR BOCCA VIEIRA ; BRAGANETO, PEDRO ; DE ALBUQUERQUE, MARCUS VINICIUS CRISTINO ; MIZUSAWA, HIDEHIRO ; BARSOTTINI, ORLANDO G.P. . When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan?. Journal of the Neurological Sciences, v. n/a, p. n/a-n/a, 2015. DOI: https://doi.org/10.1016/j.jns.2015.05.016 leia o artigo na íntegra
CAMARGO, CARLOS HENRIQUE F. ; CAMARGOS, SARAH TEIXEIRA ; Raskin, Salmo ;
CARDOSO, FRANCISCO EDUARDO C. ; TEIVE, HÉLIO AFONSO G. . Genetic evaluation for
TOR1-A (DYT1) in Brazilian patients with dystonia. Arquivos de Neuro-Psiquiatria (Impresso), v. 72, p. 753-756, 2014. doi: http://dx.doi.org/10.1590/0004–282X20140123 leia o artigo na íntegra
MORO, ADRIANA ; MUNHOZ, RENATO P. ; MOSCOVICH, MARIANA ; ARRUDA, WALTER O. ;
RASKIN, SALMO ; TEIVE, HÉLIO A.G. . Movement Disorders in Spinocerebellar Ataxias in a Cohort of Brazilian Patients. European Neurology, v. 72, p. 360-362, 2014.
DOI: https://doi.org/10.1159/000365285 leia o artigo na íntegra
MORO, ADRIANA ; MUNHOZ, RENATO P. ; ARRUDA, WALTER O. ; RASKIN, SALMO ; MOSCOVICH, MARIANA ; TEIVE, HÉLIO A.G. . Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients. Arquivos de Neuro-Psiquiatria (Impresso), v. 72, p. 659-662, 2014. doi: http://dx.doi.org/10.1590/0004–282X20140129 leia o artigo na íntegra
MORO, ADRIANA ; MARTINEZ, ALBERTO R.M. ; KARUTA, SIMONE C.V. ; Munhoz, Renato P. ; MOSCOVICH, MARIANA ; GERMINIANI, FRANCISCO M.B. ; Arruda, Walter O. ; Raskin, Salmo ;
Teive, Hélio A.G. . ‘Pseudo-Dominant’ Inheritance in Friedreich’s Ataxia: Clinical and Genetic Study of a Brazilian Family. Movement Disorders Clinical Practice, v. 1, p. 361-363, 2014. doi: https://doi.org/10.1002/mdc3.12087 leia o artigo na íntegra
CAMARGO, C. H. F. ; CAMARGOS, S. T. ; RASKIN, S. ; CARDOSO, F. E. C. ; TEIVE, H. A. G. . DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients. Tremor and other hyperkinetic movements, v. 15, p. 226, 2014. DOI: https://doi.org/10.7916/D83776RC leia o artigo na íntegra
LORENZONI, PAULO JOSÉ ; CARDOSO, ELAINE ; CRIPPA, ANA C. S. ; LOURENÇO, CHARLES
MARQUES ; SOUZA, FERNANDA TIMM SEABRA ; GIUGLIANI, ROBERTO ; SARAIVAPEREIRA, MARIA LUIZA ; RASKIN, SALMO ; BRUCK, ISAC ; KAY, CLÁUDIA S. K. ; SCOLA, ROSANA H. ; C.WERNECK, LINEU ; TEIVE, HÉLIO A. G. . Niemann-Pick disease type C: a case series of Brazilian patients. Arquivos de Neuro-Psiquiatria (Impresso), v. 72, p. 214-218, 2014. doi: http://dx.doi.org/10.1590/0004–282X20130249 leia o artigo na íntegra
SILVA, ISABELA M.W. ; ROSENFELD, JILL ; ANTONIUK, SERGIO A. ; RASKIN, SALMO ; SOTOMAIOR, VANESSA S. . A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder. Gene (Amsterdam), v. 1, p. 1-4, 2014. doi: https://doi.org/10.1016/j.gene.2014.02.058 leia o artigo na íntegra
CAMARGO, CARLOS HENRIQUE F. ; CAMARGOS, SARAH TEIXEIRA ; BECKER, NILSON ;
MUNHOZ, RENATO PUPPI ; RASKIN, SALMO ; CARDOSO, FRANCISCO EDUARDO C. ; TEIVE,
HÉLIO AFONSO G. . Cervical dystonia: about familial and sporadic cases in 88 patients. Arquivos de Neuro-Psiquiatria (Impresso), v. 72, p. 107-113, 2014.
MCFARLAND, K. N. ; LIU, J.; LANDRIAN, I. ; ZENG, D. ; RASKIN, S.; MOSCOVICH, M.; GATTO, E. M. ; OCHOA, A. ; TEIVE, H.A. G.; RASMUSSEN, A. ; ASHIZAWA, T. . Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics (Oxford. Print), v. 15, p. 59-64, 2013. PMID: 24318420. DOI: 10.1007/s10048-
013-0385-6
BEM, R. S.; Raskin, S.; MUZZILLO, D. A. ; DEGUTI, M. M. ; CANCADO, E. L. R.; ARAUJO, T. F. ; NAKHLE, M. C. ; BARBOSA, E. R. ; Munhoz, Renato Puppi ; Teive, Helio Afonso Ghizoni . Wilson’s disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene. Arquivos de Neuro-Psiquiatria (Impresso), v. 71, p. 503-507, 2013. PMID: 23982005. DOI: 10.1590/0004-282X20130078
LUIZ PEDROSO, J. ; RASKIN, S. ; GRAZIANI P. B., ORLANDO ; O., ACARY S.B. . Adult onset Alexander disease presenting with progressive spastic paraplegia. Parkinsonism & Related Disorders, v. 20, p. 241-242, 2013. PMID: 24188966. DOI: 10.1016/j.parkreldis.2013.10.014 leia o artigo na íntegra
FAVARO, F.P. ; ALVIZI, L.; ZECHI-CEIDE, R.M. ; BERTOLA, D.; FELIX, T.M. ; DE SOUZA, J.; RASKIN, S.; TWIGG, S.R.F. ; WEINER, A.M.J. ; ARMAS, P. ; MARGARIT, E. ; CALCATERRA, N.B.
; ANDERSEN, G.R. ; MCGOWAN, S. J. ; WILKIE, A.O.M. ; RICHIERI-COSTA, A. ; DE ALMEIDA, M. L.G. ; PASSOS-BUENO, M. R.. A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects. American Journal of Human
Genetics, v. 15, p. 59-64, 2013. PMID: 24360810. DOI: 10.1016/j.ajhg.2013.11.020 leia o artigo na íntegra
DA SILVA, L.R. J. ; COLOVATI, M. E. S. ; COPRERSKI, B. ; DE ANDRADE, C. E. F. ; ZANOTELI, E. ; RASKIN, S. ; OLIVEIRA, M. M. ; MELARAGNO, M. I. ; PEREZ, A. B. A. . Spinal muscular atrophy due to a “de novo” 1.3Mb deletion: Implication for genetic counseling. Neuromuscular
Disorders, v. 23, p. 388-390, 2013. PMID: 23453857. DOI: 10.1016/j.nmd.2013.01.009 leia o artigo na íntegra
RASKIN, S.; SOUZA, M. ; MEDEIROS, M. C. ; MANFRON, M. ; CHONG E SILVA, D.C. . Richiericosta and pereira syndrome: Severe phenotype. American Journal of Medical Genetics. Part A, v. 161A,
ZECHI-CEIDE, R. M. ; MOURA, P. P. ; RASKIN, S. ; RICHIERI-COSTA, A. ; GUION-ALMEIDA, M. L.. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessi. American Journal of Medical
Genetics. Part A, v. 161, p. 2088-2094, 2013. PMID: 23840040. DOI: 10.1002/ajmg.a.36057 leia o artigo na íntegra
HONÓRIO, J.C. ; BRUNS, R. F. ; GRÜNDTNER, L. F. ; RASKIN, S. ; FERRARI, L. P. ; ARAUJO JÚNIOR, E.; NARDOZZA, U. M. M. . Diastrophic dysplasia: prenatal diagnosis and review of the literature. São Paulo Medical Journal (Impresso), v. 1, p. 12-13, 2013.
ERMEL, E.L.; CARNEIRO, L.C. ; SOUZA, C. F. M.; CRIPPA, A. C. S. ; SANSEVERINO, M. T. V. ; RASKIN, S.. Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients. Arquivos de Neuro-Psiquiatria
(Impresso), v. 71, p. 414-415, 2013. PMID: 23828526. DOI: 10.1590/0004-282X20130050 leia o artigo na íntegra
MORO, A.; MUNHOZ, R. P. ; RASKIN, S. ; BEZERRA, T.C. ; MOSCOVICH, M. ; ASHIZAWA, T.; TEIVE, H.A.G. . Acute onset of cerebellar ataxia in a spinocerebellar ataxia type 10 patient after use of steroids. Arquivos de Neuro-Psiquiatria (Impresso), v. 71, p. 66-66, 2013. PMID: 23338165. DOI:
10.1590/s0004-282×2013000100015
MCFARLAND, K. N .; LIU, J. ; LANDRIAN, I. ; GAO, R. ; SARKAR, P. S. ; RASKIN, S. ; MOSCOVICH, M. ; GATTO, E. M. ; TEIVE, H. A. G. ; OCHOA, A. ; RASMUSSEN, A. ; ASHIZAWA, T. . Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. European Journal of Human Genetics, v. 1, p. 1-2, 2013. PMID: 23443018. DOI:
10.1038/ejhg.2013.32 leia o artigo na íntegra
SOUZA, J.; RASKIN, S.. Clinical and epidemiological study of orofacial clefts. Jornal de Pediatria (Impresso), v. 89, p. 137-144, 2013.
TUCCI, A.; KARA, E.; SCHOSSIG, A.; WOLF, N.I.; PLAGNOL, V.; FAWCETT, K.;PAISÁN-RUIZ,
C.; MOORE, M.; HERNANDEZ, D.; MUSUMECI, S.; TENNISON, M.; HENNEKAM, R.; PALMERI, S.; MALANDRINI, A.; RASKIN, S.; DONNAI, D.; HENNIG, C.; TZSCHACH, A.; HORDIJK, R.;
BAST, T.; WIMMER, K.; LO, C.; SHORVON, S.; MEFFORD, H.; EICHLER, E.E. , et al. ; KohlschütterTönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation, v.
34, p. 296-300, 2013. PMID: 23086778. DOI: 10.1002/humu.22241 leia o artigo na íntegra
FONSECA, E.B.; RASKIN, S.; ZUGAIB, M.. Folic acid for the prevention of neural tube defects. Revista Brasileira de Ginecologia e Obstetrícia (Impresso), v. 35, p. 287-289, 2013. PMID:
FRANÇA, M.C.; DOGINI, D.B.; D’ABREU, A.; TEIVE, H.A.G.; MUNHOZ, R.P.; RASKIN, S.; MORO, A.; MELO, C.C.; GOMES, A.P.; SAUTE, J.A.M.; JARDIM, L.B.; LOPES-CENDES, I. SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil. Clinical Genetics, v. 1, p. n/a-n/a, 2013. PMID: 24033003. DOI: 10.1111/cge.12252 leia o artigo na íntegra
MORO, A.; MUNHOZ, R. P.; ARRUDA, W. O. ; RASKIN, S. ; TEIVE, H.A.G. . Clinical relevance of ‘bulging eyes’ for the differential diagnosis of spinocerebellar ataxias. Arquivos de Neuro-Psiquiatria
(Impresso), v. 71, p. 428-430, 2013. PMID: 23857626. DOI: 10.1590/0004-282X20130056 leia o artigo na íntegra
TEIVE, HA ; MUNHOZ, RP ; ARRUDA, WO ; LOPES-CENDES, I ; RASKIN, S ; WERNECK, LC ; ASHIZAWA, T . Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families. Clinics, v. 67, p. 443-449, 2012.
Girirajan, S.; Rosenfeld, J.A.; Coe, B.P.; Parikh, S.; Friedman, N.; Goldstein, A..; Filipink, R.A.;
McConnell, J.S.; Angle, B.; Meschino, W.S.; Nezarati, M.M.; Asamoah, A.; Jackson, K.E.; Gowans, G.C.;
Martin, J.A.; Carmany, E.P.; Stockton, D.W.; Schnur, R.E.; Penney, L.S.; Martin, D.M.; Raskin, S.; Leppig,
K.; Thiese, H.; Smith, R.; Aberg, E.; Niyazov, D.M.; Escobar, L.F.; El-Khechen, D.; Johnson, K.D.; Lebel,
R.R.; Siefkas, K.; Ball S.; Shur, N.; McGuire, M.; Brasington, C.K.; Spence, J.E.; Martin, L.S.; Clericuzio,
C.; Ballif, B.C.; Shaffer, L.G.; Eichler, E.E.. Phenotypic Heterogeneity of Genomic Disorders and Rare
Copy-Number Variants. New England Journal of Medicine (Online), v. 367, p. 1321-1331, 2012. PMID:
MOSCOWICH W. ; MUNHOZ, R.P. ; TEIVE, H.A. G. ; RASKIN, S. . Olfactory impairment in familial ataxias. Journal of Neurology, Neurosurgery and Psychiatry, v. 83, p. 970-974, 2012. PMID:22791905. DOI: 10.1136/jnnp-2012-302770
REZENDE, S.A.S. ; FERNANDES, M. ; MUNHOZ, R.P. ; RASKIN, S. ; SCHELP, A.O. ; KNAAP, M.
S.; TEIVE, H. A. G. . Cerebellar ataxia as the first manifestation of Alexander’s disease. Arquivos de Neuro-Psiquiatria (Impresso), v. 70, p. 309-310, 2012.
GARDINER, A. R. ; BHATIA, K. P. ; STAMELOU, M. ; DALE, R. C. ; KURIAN, M. A. ; SCHNEIDER,
DIAS, F.A.; MUNHOZ, R.P.; RASKIN, S.; WERNECK, L. C.; TEIVE, H.A. G. . Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy’s disease). Clinics, v. 66, p. 955-957, 2011. leia o artigo na íntegra
TEIVE, H.A.G.; MUNHOZ, R.P.; ARRUDA, W.O.; RASKIN, S.; WERNECK, L.C.; ASHIZAWA,
T.. Spinocerebellar ataxia type 10 – A review. Parkinsonism & Related Disorders, v. 17, p. 655-661, 2011. PMID: 21531163. DOI: 10.1016/j.parkreldis.2011.04.001 leia o artigo na íntegra
SOUZA, J.; FAUCZ, F.; SOTOMAIOR, V.; BONALUMI FILHO, A. ; ROSENFELD, J. ;
RASKIN,S.. Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: clinical and molecular characterization of a new contiguous gene syndrome. Genetics and Molecular Biology (Impresso), v.
34, p. 557-561, 2011. PMID: 22215957. DOI: 10.1590/S1415-47572011005000044
DOETZER, A.D.; SOTOMAIOR, V.S. ; BUBNA, M.H.; RASKIN, S.. What can be done when asymptomatic patients discover they have Brugada syndrome? A case report of Brugada syndrome. International Journal of Cardiology (Print), v. 150, p. e96-e97, 2011. PMID: 20381179. DOI:
10.1016/j.ijcard.2010.02.037 leia o artigo na íntegra
FAUCZ, F.R. ; SOUZA, J. ; FILHO, A. B. ; SOTOMAIOR, V. S. ; FRANTZ, E. ; ANTONIUK, S. ;
ROSENFELD, J.A. ; RASKIN,S.. Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?. American Journal of Medical
Genetics. Part A, v. 1, 2011. PMID: 21815264. DOI: 10.1002/ajmg.a.34196 leia o artigo na íntegra
ROSENFELD, J.A. ; DRAUTZ, J. M. ; CLERICUZIO, C.L. ; CUSHING, T.; RASKIN, S.; MARTIN, J.; TERVO, R.C. ; PITARQUE, J.A. ; NOWAK, D.M. ; KAROLAK, J.A. ; LAMB, A.N. ; SCHULTZ, R.A. ; BALLIF, B.C. ; BEJJANI, B. A. ; GAJECKA, M. ; SHAFFER, L.G.. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. American Journal of
Medical Genetics. Part A, v. 1, 2011. PMID: 21744490. DOI: 10.1002/ajmg.a.34100 leia o artigo na íntegra
FILHO, A. B.; SOUZA, J.; FAUCZ, F.R. ; SOTOMAIOR, V.S. ; DUPONT, B.; BARTEL, F.; RODRIGUEZ, R.; SCHWARTZ, C.E. ; SKINNER, C. ; ALLIMAN, S.; RASKIN, S.. Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. American Journal of Medical Genetics. Part A, 2011. PMID: 21485001. DOI: 10.1002/ajmg.a.33942
TEIVE, H.A.G. ; ARRUDA, W.O. ; RASKIN, S. ; MUNHOZ, R.P. ; ZAVALA, J.A. ; WERNECK, L.C. ; ASHIZAWA, T. . Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium. Journal of Clinical Neuroscience, v. 18, p. 437-438, 2011. PMID: 21236683. DOI:
10.1016/j.jocn.2010.07.102 leia o artigo na íntegra
BOGUSZEWSKI, C.L. ; BIANCHET, L.C. ; RASKIN, S. ; NOMURA, L. M. ; BORBA, L. A. ; CAVALCANTI, T.C. S. . Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1. Arquivos Brasileiros de Endocrinologia e Metabologia (Impresso), v. 54, p. 705-710, 2010.
NASCIMENTO, G. M.; NUNES, C.S.A.; MENEGOTTO, P. F. ; RASKIN, S. ; ALMEIDA, N.. Cútis laxa: relato de caso. Anais Brasileiros de Dermatologia (Impresso), v. 85, p. 684-686, 2010.
SILVEIRA-MORIYAMA, L. ; MUNHOZ, R. P. ; CARVALHO, M.DE J. ; RASKIN, S. ; ROGAEVA, E. ; AGUIAR, P. DE C.; BRESSAN, R.A. ; FELICIO, A.C. ; BARSOTTINI, O.G.P. ; ANDRADE, L.A.F. ; CHIEN, H.F. ; BONIFATI, V. ; BARBOSA, E. R. ; TEIVE, H.A. ; LEES, A.J. . Olfactory heterogeneity in LRRK2 related Parkinsonism. Movement Disorders, 2010. PMID: 20818658. DOI:
10.1002/mds.23325
TEIVE, H.A.G. ; MUNHOZ, R.P. ; RASKIN, S. ; ARRUDA, W.O. ; DE PAOLA, L. ; WERNECK, L. C. ; ASHIZAWA, T. . Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of
Brazilian patients. Movement Disorders, 2010. PMID: 20818609. DOI: 10.1002/mds.23324 leia o artigo na íntegra
ALLANSON, J.E. ; BOHRING, A.; DÖRR, H.; DUFKE, A. ; GILLESSEN-KAESBACH, G. ; HORN, D.
; KÖNIG, R. ; KRATZ, C.P. ; KUTSCHE, K.; PAULI, S. ; RASKIN, S.; RAUCH, A.; TURNER, A.;
WIECZOREK, D.; ZENKER, M.. The face of Noonan syndrome: Does phenotype predict genotype. American Journal of Medical Genetics. Part A, 2010. PMID: 20602484. DOI:
10.1002/ajmg.a.33518 leia o artigo na íntegra
WHITE, M.C. ; GAO, R. ; XU, W. ; MANDAL, S. M. ; LIM, J.G. ; HAZRA, T.K. ; WAKAMIYA, M. ; EDWARDS, SHARON F. ; RASKIN, S. ; TEIVE, H.A. G. ; ZOGHBI, H.Y. ; SARKAR, P.S. ;
ASHIZAWA, T.. Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis
Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10. PLOS Genetics (Online), v.
6, p. e1000984, 2010. PMID: 20548952. DOI: 10.1371/journal.pgen.1000984 leia o artigo na íntegra
MUNHOZ, R.P.; KOWACS, P.A. ; SÓRIA, M. G. ; DUCCI, R. D.; RASKIN, S. ; TEIVE, H. A. G. . Catamenial and oral contraceptive-induced exacerbation of chorea in chorea-acanthocytosis: Case report. Movement Disorders, 2009. PMID: 19735091. DOI: 10.1002/mds.22730
MUNHOZ, R ; TEIVE, H ; RASKIN, S ; WERNECK, L . CTA/CTG expansions at the SCA 8 locus in multiple system atrophy. Clinical Neurology and Neurosurgery (Dutch-Flemish ed.), v. 111, p. 208-210,
FAUCZ, F.R. ; SOUZA, D.A.S. ; OLANDOSKI, M. ; RASKIN, S.. CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country. Journal of Human Genetics (Print), v. 55, p. 71-76, 2009. PMID: 19942933. DOI:
10.1038/jhg.2009.123 leia o artigo na íntegra
MUNHOZ, R.P. ; TEIVE, H. A. ; FRANCISCO, A. N. ; RASKIN, S. ; ROGAEVA, E. . Unilateral pallidotomy in a patient with parkinsonism and G2019S LRRK2 mutation. Movement Disorders, v.
24, p. 791-792, 2009. PMID: 19012346. DOI: 10.1002/mds.21818 leia o artigo na íntegra
ZECHI-CEIDE, R. M.; RIBEIRO, L. A. ; RASKIN, S. ; BERTOLACINI, C. D. P. ; GUION-ALMEIDA, M. L. ; RICHIERI-COSTA, A. . Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH , TGIF , SIX3 , GLI2 , TP73L , and DHCR7 as candidate genes. American Journal of Medical Genetics. Part A, v. 149A, p. 1277-1279, 2009. PMID: 19449411. DOI: 10.1002/ajmg.a.32844 leia o artigo na íntegra
RODRIGUES, G. G. R. ; WALKER, R. H. ; BRICE, A. ; CAZENEUVE, C. ; RUSSAOUEN, O. ; TEIVE, H. A.G. ; MUNHOZ, R. P. ; BECKER, N. ; RASKIN, S. ; WERNECK, L. C. ; JUNIOR, W. M. ; TUMAS,
MUNHOZ, R.P. ; WAKUTANI, Y. ; MARRAS, C. ; TEIVE, H. A. G. ; RASKIN, S. ; WERNECK, L. C.
; MORENO, DANIELLE ; SATO, C. ; LANG, A. E. ; ROGAEVA, E. . The G2019SLRRK2 mutation in Brazilian patients with Parkinson’s disease: Phenotype in monozygotic twins. Movement Disorders, v.
23, p. 290-294, 2008. PMID: 17999435. DOI: 10.1002/mds.21832
SANTOS, M. L. F. ; RASKIN, S. ; TELLES, D. S. ; LÖHR JUNIOR, A. ; LIBERALESSO, P. B. N. ;
VIEIRA, S. C. ; CORDEIRO, M. L. . Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: A case report in Brazil. Journal of Inherited Metabolic Disease, v. 31, p. 357-361,
TEIVE, H.A.G. ; MUNHOZ, R.P. ; MUZZIO, J.A. ; SCOLA, R.H. ; KAY, C.K. ; RASKIN, S. ; WERNECK, L.C. ; BRUHN, H. . Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. Movement Disorders, v. 23, p. 1191-1192, 2008. PMID: 18412280; DOI:
10.1002/mds.21990
RASKIN, S; PEREIRAFERRARI, L ; CALDEIRAREIS, F ; ABREU, F ; MAROSTICA, P ; ROZOV, T ; CARDIERI, J ; LUDWIG, N ; VALENTIN, L ; ROSARIOFILHO, N . Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients. Journal of Cystic Fibrosis, v. 7, p. 15-22, 2008. PMID: 17544945. DOI:
10.1016/j.jcf.2007.03.006 leia o artigo na íntegra
STACHON, A.; ASSUMPÇÃO JR, F. B. ; RASKIN, S. . Rett syndrome: clinical and molecular characterization of two Brazilian patients. Arquivos de Neuro-Psiquiatria (Impresso), v. 65, p. 36-40, 2007.
RASKIN, S.; ASHIZAWA T ; TEIVE, H. . Reduced Penetrance in a Brazilian Family With Spinocerebellar Ataxia Type 10. Archives of Neurology (Chicago), v. 64, p. 591-594, 2007. PMID:
BECKER, N. ; MUNHOZ, R.P. ; RASKIN, S.; WERNECK, L. C. ; TEIVE, H.A.G. . Non-choreic movement disorders as initial manifestations of Huntington’s disease. Arquivos de Neuro-Psiquiatria (Impresso), v. 65, p. 402-405, 2007. PMID: 17665004. DOI: 10.1590/s0004-282×2007000300007 leia o artigo na íntegra
FAUCZ, F.R. ; GIMENEZ, J. ; RAMOS, M.D. ; PEREIRA-FERRARI, L. ; ESTIVILL, X. ; RASKIN, S. ; CASALS, T. ; CULPI, L . Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles. Clinical Genetics, v. 72, p. 218-223, 2007. PMID:17718859. DOI: 10.1111/j.1399-
0004.2007.00854.x leia o artigo na íntegra
RASKIN, S.; PETZL-ERLER, M. L. ; PHILLIPS, J. A. ; PEREIRA-FERRARI, L. ; PROBST, C. M. ; FAUCZ, F. R. ; SOTOMAIOR, V. ; SALZANO, FRANCISCO M. ; CULPI, L. . Cystic Fibrosis Gene Variability in Two Southern Brazilian Amerindian Populations: Analysis of the -F508 Mutation and the KM19 and XV2C Haplotypes. Human Biology, v. 79, p. 79-91, 2007. PMID: 17985657. DOI:
10.1353/hub.2007.0028. leia o artigo na íntegra TEIVE, H.A.G. ; ARRUDA, W.O. ; RASKIN, S. ; ASHIZAWA, T. ; WERNECK, L.C.. The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene. Arquivos de Neuro-Psiquiatria (Impresso), v. 65, p. 965-968, 2007. DOI: 10.1590/S0004-282X2007000600008
MUNHOZ, R.P., KAWARAI, T., TEIVE, H. G., RASKIN, S., SATO, C., LIANG, Y., GEORGEHYSLOP, P. H., ROGAEVA, E.. Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). Movement Disorders, v. 21, n.2, p. 279-281, 2006.
RASKIN, S.; RP, M. ; TEIVE, H. ; TROIANO, A. R . Atypical parkinsonism and SCA8. Parkinsonism & Related Disorders, v. 12, p. 191-192, 2006.
RASKIN, S.. O papel da genética no envelhecimento: implicações na qualidade de vida do idoso. Revista Médica do Paraná, v. 63, p. 5-9, 2006.
GOMIDE P. ; MILLAN, D. ; BOARON, M. ; RASKIN, S. . Práticas educativas parentais e gestação na adolescência: comparando as experiências da gestante adolescente e da adolescente sem experiência de gestação. Revista Médica do Paraná, v. 63, p. 32-36, 2006.
CARRERA, RC ; YAMASAKI R ; BRAGANÇA W ; RASKIN, S. . Etiologic investigations on male infertility before intracytoplasmatic sperm injection (ICSI). GENETIC COUNSELING, v. 17, p. 385389, 2006. PMID: 17100208.
A, P. ; H, S. ; N, R. ; U, C. ; T, L. ; RASKIN, S. . Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. CYTOGENETIC AND GENOME RESEARCH, v.
111, n.2, p. 171-174, 2005. PMID:16103660. DOI:10.1159/000086388 leia o artigo na íntegra
BONATO, M. ; RASKIN, S. . O impacto psicológico do diagnóstico positivo do teste do pezinho na relação Mãe-Bebê. Estudos de Biologia, v. 27, p. 33-37, 2005.
TRENTIN, ANA P. ; Scola, Rosana H. ; Teive, Hélio A.G. ; Raskin, Salmo ; GERMINIANI, FRANCISCO
M.B. ; Werneck, Lineu C. . Kennedy’s disease phenotype with positive genetic study for KugelbergWelander’s disease: case report. Arquivos de Neuro-Psiquiatria (Impresso), v. 63, p. 330-331, 2005. leia o artigo na íntegra
KUROTAKI, NAOHIRO ; SHEN, JOSEPH J ; TOUYAMA, MAYUMI ; KONDOH, TATSURO ; VISSER, REMCO ; OZAKI, TAKAO ; NISHIMOTO, JUNJI ; SHIIHARA, TAKASHI ; UETAKE, KIMIAKI ; MAKITA, YOSHIO ; HARADA, NAOKI ; Raskin, Salmo ; BROWN, CHESTER W ; HÖGLUND, PIA ; OKAMOTO, NOBUHIKO ; LUPSKI, JAMES R . Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genetics in Medicine, v. 7, p. 479-483, 2005. PMID:
COUTINHO, G ; MITUI, M ; CAMPBELL, C ; COSTACARVALHO, B ; GATTI, R ; SHAREEF, N. ;
XIA, S. ; YONG, H. ; CHIH-HUNG, L. ; YVONNE, T. ; ROBERT, T. ; RASKIN, S. . Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: Seven new mutations. American Journal of Medical Genetics (Print) (Cessou em 2002, Foi desdobrado em três: ISSN 1552-4825, 1552-4841 e 1552-4868), v. 126A, p. 33-40, 2004. PMID: 15039971. DOI:
10.1002/ajmg.a.20570 leia o artigo na íntegra
TEIVE, H. G. ; ROA, A., RASKIN, S. et al. Clinical Phenotype of Brazilian Families with Spinocerebelar Ataxia 10. Neurology (Cleveland, Ohio), v. 63, n.8, p. 1509-1512, 2004. PMID:
KOWACKS, P.A. ; WERNECK, L. C. ; FAMELI, H. ; LANGE, M. ; RASKIN, S. . Report of cluster headache in a pair of monozygous twins. The Journal of Headache and Pain (Testo Stampato), v. 5, p.
140-143, 2004. doi: 10.1007/s10194-004-0082-9 leia o artigo na íntegra
LANGE, M.C. ; ZETOLA, V. H. ; TEIVE, H. A. ; SCOLA, R H ; Trentin AP ; JA, Z. ; PEREIRA, E. ; RASKIN, S. . Cerebrotendinous xanthomatosis: report of two Brazilian brothers. Arquivos de NeuroPsiquiatria (Impresso), v. 62, n.4, p. 1085-1089, 2004.
TEIVE, H. A. ; PEREIRA, E. ; JA, Z. ; MC, L. ; PAOLA, L. ; RASKIN, S. . Generalized dystonia and striatal calcifications with lipoid proteinosis. Neurology (Cleveland, Ohio), v. 14, n.63, p. 2168-2169,
TEIVE, H. ; Troiano A R ; RASKIN, S. ; WERNECK, L. . Lebers hereditary optic neuropathy case report and literature review.. São Paulo Medical Journal, São Paulo, v. 122, n.6, p. 276-279, 2004.
BARROS, I. R. ; RASKIN, S. . Epidermólise bolhosa distrófica: relato de caso brasileiro. Estudos de Biologia, v. 26, p. 25-30, 2004.
PRETI ; RASKIN, S. . Freqüência fenotípica do Vírus da Hepatite C e de seus subtipos em 58 casos constatados no Paraná. Estudos de Biologia, v. 26, p. 31-40, 2004.
SUN, GUANGYUN ; MCGARVEY, STEPHEN T ; BAYOUMI, RIAD ; MULLIGAN, CONNIE J ; BARRANTES, RAMIRO ; Raskin, Salmo ; ZHONG, YIXI ; AKEY, JOSHUA ; CHAKRABORTY, RANAJIT ; DEKA, RANJAN . Global genetic variation at nine short tandem repeat loci and implications on forensic genetics. European Journal of Human Genetics, v. 11, p. 39-49, 2003. PMID:
PERIQUET, M. ; LATOUCHE, M. ; LOHMANN, E. ; MICHELE, G. ; RICARD, S. ; TEIVE, H. A. ; FRAIX, V. A. ; VIDAILHET, M. ; NICHOLL, D. ; BARONE, P. ; WOOD, N. W. ; RASKIN, S. ;
DELEUZE, J. ; AGID, Y. ; ERR, A. ; BRICE, A. ; GROUP, T. F. P. D. G. S. ; PARKINSONS, E. C. O. G. S. I. . Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain, v. 127, p. 1271, 2003. PMID:12764050. DOI: 10.1093/brain/awg136 leia o artigo na íntegra
LEE, Hh ; SCHANG, S F ; LLEE, Y ; RASKIN, S. . Deletion of the C4-CYP21 repeat module leading to the formation of a chieric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21hidroxylase deficiency.. Clinical Chemistry (Baltimore, Md.), v. 49, n.2, p. 319-322, 2003. PMID: 12560361.
LOHMAN, e ; PERIQUET, M ; BONIFFATTI, V ; WOOD, Nw ; MICHELE, G. ; BONNET, A. ; FRAIX, V. ; BROUSSOLLE, E. ; HORSTINK, M. W. I. M. ; VIDAILHET, M. ; VERPILLAT, P. ; GASSER, T. ; TEIVE, Helio ; RASKIN, S. . How much phenotypic variation can be attributed toparkin genotype?. ANNALS OF NEUROLOGY, USA, v. 54, n.2, p. 176-185, 2003. PMID:12891670. DOI:
10.1002/ana.10613 leia o artigo na íntegra
RAWAL, N ; PERIQUET, M ; LOHMANN, e ; LUCKING, Cb ; TEIVE, Helio ; RASKIN, S. . New parkin mutations and atypical phenotypes in families with autossomal recessive parkinsonism. Neurology (Cleveland, Ohio), v. 60, n.8, p. 1378-1381, 2003. PMID: 12707451. DOI:
10.1212/01.wnl.0000056167.89221.be
BERTOLLO, E M Goloni ; ROSSIT, A R ; SALOMÃO JUNIOR, J B ; CONTE, A C Fett ; RASKIN, S. . CFTR Molecular analysis reveals infrequent allele frequencies in São Paulo State, Brazil. Human Biology, v. 75, n.3, p. 393-398, 2003. PMID: 14527202.
RASKIN, S.; PEREIRA, L ; REIS, F ; ROSARIO, N ; LUDWIG, N ; VALENTIN, L ; PHILLIPS, J A ;
ALLITTO, B ; HEIM, R ; SUGARMANN, e ; PROBST, C ; FAUCZ, F ; CUPLI, L . High Allelic Heterogeneity Between Afro-Brazilians and Euro-Brazilians Impacts Cystic Fibrosis Genetic Testing. Genetic Testing (Cessou em 2008. Cont. ISSN 1945-0265 Genetic Testing and Molecular Biomarkers), v. 7, n.3, p. 213-218, 2003. PMID:14641997. DOI:10.1089/109065703322537223 leia o artigo na íntegra
CLAES, L ; CELEUMANS, B ; AUDENAERT, D ; SMETS, K ; LOFGREN, A ; et al ; JURGEN, D. ; ALA-MELLO, S. ; BASEL-VANAGAITE, L. ; PLECKO, B. ; RASKIN, S. . De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Human Mutation, v. 21, n.6, p. 615-621,
Matsumoto N ; KAMIMURA, L. ; ENDO, Y ; KAMIMURA, J ; KUROTAKI, N ; KINOSHITA, A ; MIYAKE, N. ; SHIMOKAWA, O. ; HARADA, N. ; VISSER, R. ; OHASHI, H. ; MIYAKAWA, H. ; GERRITSEN, J. ; RASKIN, S. . Identification of eight novel NSD1 mutations in Sotos
Syndrome. Journal of Medical Genetics, v. 40, n.11, p. 126-127, 2003.
SILVA FILHO, L. V. F. ; BUSSAMRA, M. H. C. F. ; NAKAIE, C. M. A. ; ADDE, F. V. ; RODRIGUES, J. C. ; RASKIN, S. . Cystic fibrosis with normal sweat chloride concentration ? case report. Revista do Hospital das Clínicas (FMUSP), v. 58, p. 260-262, 2003.
Camacho S ; RASKIN, S. . Apresentação de Caso Clínico – Síndrome de Seckel. Endocrinologia & Diabetes Clínica e Experimental, v. 4, p. 180-182, 2003.
GOLONI-BERTOLLO,ENY MARIA; ROSSIT, ANDREA REGINA B.; SALOMAO JUNIOR, JOAO
BATISTA; FETT-CONTE, AGNES CRISTINA; RASKIN, SALMO. CFTR Molecular Analysis Reveals Infrequent Allele Frequencies in Nine Cystic Fibrosis Patients from São Paulo State, Brazil. Human
Biology, Volume 75, Number 3, June 2003. DOI: https://doi.org/10.1353/hub.2003.0042 leia o artigo na íntegra
RAWAL, N. ; PERIQUET, M ; DURR, A. ; MICHELE, G. ; BONIFFATTI, V ; TEIVE, H. A. ; RASKIN,
RASKIN, S.. O Mapeamento Genético de PIT-1 em Humanos: o gene dos genes. Endocrinologia & Diabetes Clínica e Experimental, v. 2, p. 47-48, 2002.
SCOLA, R H ; WERNECK, L C ; IWAMOTO, F M ; RIBAS, L C ; RASKIN, S. . Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. Arquivos de Neuro-Psiquiatria
(Impresso), v. 59, n.2-A, p. 259-262, 2001. DOI: 10.1590/S0004-282X2001000200022 leia o artigo na íntegra
TEIVE, H A ; RASKIN, S. ; IWAMOTO, F M ; POLYMEROPOULOS, M H ; et al . The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson’s disease. Arquivos de Neuro-
Psiquiatria (Impresso), v. 59, p. 722-724, 2001. DOI: 10.1590/S0004-282X2001000500013 leia o artigo na íntegra
RASKIN, S.; ALLAN, N ; TEIVE, H A ; CARDOSOS, F ; HADAD, M S ; LEVI, G ; ANDRADE, L A ; et al . Huntington disease: DNA analysis in brazilian population. Arquivos de Neuro-Psiquiatria
(Impresso), v. 58, p. 977-985, 2000. DOI: 10.1590/S0004-282X2000000600001 leia o artigo na íntegra
NORONHA, L. ; SAMPAIO, G. ; NETTO, M. R. ; REIS-FILHO, J. S. ; FAORO, L. N. ; RASKIN, S. ; Bleggi-Torres LF . Neurocutaneous melanosis. Jornal de Pediatria, v. 75, n.4, p. 277-280, 1999. PMID: 14685530.
PEREIRA-FERRARI, L ; RASKIN, S. ; CULPI, Lodércio . Cystic fibrosis mutations R1162X and 2183AA>G in two southern Brasilian states . Genetics and Molecular Biology (Impresso), v. 22, p. 291294, 1999.
BURGER, M. ; RASKIN, S. ; BROCKELT, S. ; AMTHOR, B. ; GEISS, H. ; HAAS, W. . DNA
Fingerprinting of Mycobacterium Tuberculosis Complex Culture Isolates Collected in Brazil and Spotted Onto Filter Paper. Journal of Clinical Microbiology, v. 36, n.2, p. 573-576, 1998. PMID: 9466780.
RASKIN, S.; PHILLIPS, J. A. III ; KAPLAN, G. ; MCCLURE, M. ; VNENCAK-JONES, C. ; PARKER,
LEVY, G. ; NOBRE, M. E. ; CIMINI, V. T. ; RASKIN, S. ; EGELHARDT, E.. Juvenile Huntington’s disease confirmed by genetic examination in twins. Arquivos de Neuro-Psiquiatria (Impresso), v. 57, p.
867-869, 1999. DOI: 10.1590/S0004-282X1999000500022
O’NNEIL, P ; RASKIN, S. ; TROMBLEY, L. ; GUNDEL, M. ; HUNTER, Y. ; NICKLAS, J. A. ; FERREIRA, M. L. ; BUGALO, M. ; FARIAS, A. C. ; LOHR, A. ; DIAMANTOPOULOS, M. . Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females. Arquivos de Neuro-Psiquiatria (Impresso), v. 57, n.4, p. 907-911, 1999. DOI:
10.1590/S0004-282X1999000600001
ALMEIDA, D.B.; ARRUDA, W.O.; RAMINA, R.; PEDROZO, A.A.; RASKIN, S.. Migrânea com afasia: relato de uma família. Arquivos de Neuro-Psiquiatria (Impresso), v. 57, n.1, p. 111-113, 1999. DOI: 10.1590/s0004-282×1999000100022
MAROSTICA, P. ; RASKIN, S. ; ABREU, F. . Analysis of the DF508 mutation in a Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients. Brazilian Journal of Medical and Biological Research, v. 31, n.4, p. 529-532, 1998. DOI: 10.1590/S0100-
879X1998000400009
MARTINELI, A.M.R. ; BRAGA, M. ; DE LACERDA, L. ; RASKIN, S. ; GRAF H . Description of a
Brazilian Patient Bearing the R271W Pit-1 Gene Mutation. Thyroid (New York, N.Y.), v. 8, n.4, p. 299-
304, 1998. PMID: 9588494. DOI: 10.1089/thy.1998.8.299 leia o artigo na íntegra
ZETOLA VH ; SCOLA, R. ; RASKIN, S. ; PREVEDELLO DM, CORREA-NETO Y ; WERNECK, L.
. Rigid spine syndrome: case report. Arquivos de Neuro-Psiquiatria (Impresso), v. 56, n.4, p. 812-818,
MACIEL, D. R. K. ; MEDEIROS, M. C. R. ; CLIMACO, V. M. ; KELIAN, G. L. R. ; SILVA, L. S. T. ;
SOUZA, M. M. ; RASKIN, S. . Atrofia muscular bulbo espinhal recessiva ligada ao cromossomo X
(doença de Kennedy): estudo de uma família. Arquivos de Neuro-Psiquiatria (Impresso), v. 56, p. 639-
645, 1998. DOI: 10.1590/S0004-282X1998000400019
MACIEL, D. R. K. ; MEDEIROS, M. C. R. ; CLIMACO, V. M. ; KELIAN, G. L. R. ; SILVA, L. S. T. ;
SOUZA, M. M. ; RASKIN, S. . Atrofia muscular bulbo espinhal recessiva ligada ao cromossomo X (doença de Kennedy): estudo de uma família. Arquivos de Neuro-Psiquiatria (Impresso), v. 56, p. 639645, 1998.
RASKIN, S.. Avaliação do Risco Fetal por Uma Gota de Sangue em Papel Filtro. Newslab, v. 18, p. 130-131, 1997.
RASKIN, S.; LEAL, M.F. . Avaliação do Risco Fetal para Doenças Genética por Marcadores Bioquímicos: Uma Nova Proposta. Revista de Atualização Em Ginecologia e Obstetrícia, v. VIII, n.4, p. 210, 1997.
RASKIN, S.; PHILLIPS, J. A. III ; KRISHNAMANI, M. R. S. ; VNENCAK-JONES, C. ; PARKER, R.
RASKIN, S.; PHILLIPS, J. A. III ; KRISHNAMANI, M. R. S. ; VNENCAK-JONES, C. ; PARKER, R.
REIS, F. ; ROSÁRIO, N. A. ; LUDWIG, N. ; CULPI, L . Regional Distribution of Cystic Fibrosis – Linked DNA Haplotypes in Brazil: Multicenter Study. Human Biology, v. 69, n.1, p. 75-88, 1997. PMID: 9037896.
RASKIN, S.; LEAL, M. F. . Validade da Técnica de PCR-STR na Determinação de Paternidade em DNA. LAES/HAES, v. 34, p. 100, 1997.
RASKIN, S.; PHILLIPS, J. A. III ; SUMMAR, M. L. ; SHERRILL, C. G. ; GARR, J. L. ; MORENO, A. ; KRISHNAMANI, M. R. S. . Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism. Human Genetics, v. 98, p. 703-705, 1996. PMID:8931705. DOI: 10.1007/s004390050289
RASKIN, S.. Teste de DNA para a Doença de Alzheimer. O Dendrito, v. Ano 3, n.3, p. 321-3223, 1996.
ROGAN, P.K. ; SEIP, J. ; DRISCOLL, D. ; PAPENHAUSEN, P. ; JOHNSON, V. ; RASKIN, S. ;
WOODWARD, A. ; BUTLER, M. . Distinct 15q Genotypes in Russell-Silver and Ring 15 Syndromes. American Journal of Medical Genetics, v. 62, p. 10-15, 1996. PMID: 8779316. doi:
10.1002/(SICI)1096-8628(19960301)62:1<10::AID-AJMG3>3.0.CO;2-#
MARÓSTICA, P. ; SANTOS, J. ; SOUZA, W. ; SILVA, F. ; RASKIN, S. . Estimativa da Incidência de Fibrose Cística em Porto Alegre: Análise a Partir da Frequência da Mutação DF508 em RecémNascidos Normais. Revista AMRIGS, Porto Alegre, v. 39, n.3, p. 205-207, 1995.
DEKA, R. ; MIKI, T. ; YIN, S. J. ; MCGARVEY, S. T. ; SHIVER, M. D. ; BUNKER, C. H. ; RASKIN, S.
; HUNDRIESER, J. ; FERRELL, R. E. ; CHAKRABORTY, R. . Normal CAG Repeat Variation at the DRPLA Locus in World Populations. American Journal of Medical Genetics, v. 57, p. 508-511, 1995. PMID: 7668279.
RASKIN, S.. Ética e Genética. Educar em Revista, v. 11, p. 27-32, 1995.
ALMEIDA, M. ; RASKIN, S. . Da Necessidade de Uma Nova União Entre o Direito e a Medicina Genética. Tribuna do Judiciário, v. 3, p. 100, 1995.
HAMOSH, A. ; ROSENSTEIN, B. ; NASH, E. ; CURRISTIN, S. ; CUTTING, G. ; MACEK JR, M. ; MCINTOSH, I. ; RASKIN, S. . Correlation between Genotype and Phenotype in Patients with Cystic
Fibrosis. New England Journal of Medicine (Print), v. 329, n.18, p. 1308-1313, 1993. PMID: 8166795.
DOI:10.1056/NEJM199310283291804
RASKIN, S.; PHILLIPS, J.A.III ; KRIHNAMANI, M. R. S. ; VNENCAK-JONES, C. ; PARKER, R. A. ;
ROZOV, T. ; CARDIERI, J.M ; MAROSTICA, P. ; ABREU, F. ; GIUGLIANI, R. ; REIS, F. ; ROSARIO, N. A. ; LUDWIG, N. ; PILOTTO, R. F. . DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards. American Journal of Medical Genetics (Print) , v. 46, p. 665-669,
CHAKRABORTY, R. ; SRINIVASAN, M.R. ; RASKIN, S. . Estimation of The Incidence of a Rare Genetic Disease Through a Two-Tier Mutation Survey. American Journal of Medical Genetics, v. 52, p. 1129-1138, 1993. leia o artigo na íntegra
TAYLOR, B.A. ; RASKIN, S. Mapping of a Pit-1 PCR-RFLV in Recombinant Inbred Strains. Mouse Genome, v. 91, n.1, p. 134-136, 1993.
Molina Cabañero JC, Perez Jurado LA, Raskin S, Vicario JL, Balas Perez A, Garcia Novo MD. Simple Method for Cystic Fibrosis Carrier Screening. Lancet (British Edition), V. 340, N.8825, P. 983-984, 1992.
Osborne L, Santis G, Schwarz M, Klinger M, Raskin S. Incidence and Expression of the N1303K Mutation of the Cystic Fibrosis (CFTR) Gene. Human Genetics, V. 89, P. 653-658, 1992.
RASKIN, S.; PHILIPIS, J. A. III ; VNENCAK-JONES, C. . Utility of Internal Markers to Improve the Accuracy of Cystic Fibrosis Genotype Analysis. BioTechniques, v. 13, n.3, p. 372-374, 1992.
RASKIN, S.; PHILLIPIS, J. A. III ; KAPLAN, G. ; MCCLURE, M. ; VNENCAK-JONES, C. . Cystic Fibrosis Genotyping by Direct PCR Analysis of Guthrie Blood Spots. PCR METHODS AND APPLICATIONS, v. 2, p. 154-156, 1992.
RASKIN, S.; PHILLIPS, J. A. III . Genetic Diagnosis of Cystic Fbrosis in the Perinatal
Period. Tennessee Perinatal Association, v. 2, n.1, p. 6-6, 1992.
Raskin S, Luiz A, Vieira M. Síndrome de Dressler – um Diagnóstico Esquecido? Revista Médica do Paraná, V. 46, N.1, P. 7-10, 1988.
AZULAY, L. et. al. Atlas de Dermatologia. 3ª Edição. Rio de Janeiro, GEN | Grupo Editorial Nacional Participações S/A, 2020.
ZONTA, M. B.; SANTOS, L. H. C.; TEIVE, H. A. G. Reabilitação nas Ataxias – Orientação Multidiciplinar aos Pacientes, Cuidadores e Profissinais. Curitiba: UFPR, 2018, p. 371-374.
PEREZ, G. H.; ISMAEL, S. M. C.; ELIAS, V. A.; MORETTO, M. L. T. Tempo da Vida e a Vida no Nosso Tempo – Repercussões na Psicologia Hospitalar. São Paulo: Atheneu, 2017, p. 35-51.
KAMERS, M.;MARIOTTO, R. M. M.; VOLTOLINI, R. organizadores. Por uma (nova)psicopatologia da infância e da adolescência. São Paulo: Escuta, 2015, p. 149-168.
TREVILATTO, PAULA CRISTINA; WERNECK, RENATA IANI organizadores. Genética
Odontológica: Série Abeno. Artes Médicas Editora, 2014. ( Link em Google Books );
RASKIN, SALMO. Doenças Genéticas em Otoneurologia. In: BIANCA SIMONE ZEIGELBOIM E ARI
LEON JURKIEWICZ. (Org.). A Multidisciplinaridade na Otoneurologia. 1 ed. São Paulo: ROCA, 2012, v. 1, p. 23-30.
RASKIN, S.; FAUCZ, F R ; RASKIN, S. . Genética Clínica – Noções de Biologia Molecular. In: SOCIEDADE BRASILEIRA DE PEDIATRIA. (Org.). Tratado de Pediatria. Curitiba: Manole, 2006, v.
1, p. -.
RASKIN, S.; PEREZ,A.B.A.; MARQUES-DE-FARIA, A.P. Genética Médica: Teste Laboratorial para Diagnóstico de Doenças Sintomáticas. In: BISCEGLI, FABIO et al. (Org.). Projeto Diretrizes. 1ed. São Paulo: Associação Médica Brasileira, 2005, v. , p. 135-145.
RASKIN, S.; MENEZES, MURILO SOUSA DE ; TEIVE, H. A. ; HARATZ, SALO . Genética da Doença de Parkinson. In: Doença de Parkinson: Aspéctos Clínicos e Cirúrgicos. Rio de Janeiro: Guanabara Koogan S/A, 2002, v. 1, p. -.
RASKIN, S.; FAUCZ, F R . Conceitos Básicos e Principais Técnicas de Análise Molecular. In: Gerson Carakuchansky. (Org.). Doenças Genéticas em Pediatria. 1 ed. Rio de Janeiro: Guanabara-Koogan, 2001, v. 1, p. 9-22.
RASKIN, S.; FAUCZ, F R . Aspéctos Genéticos da Fibrose Cística. In: CARAKUSHANSKY, GERSON. (Org.). Doenças Genéticas em Pediatria. 1 ed. Rio de Janeiro: Guanabara-Koogan, 2001, v. 1, p. 227-242.
BRUNONI, D.; RASKIN, SALMO . Conceitos Básicos e Principais Técnicas de Análise Molecular. In: CARAKUSHANSKY, GERSON (Org.). Doenças Genéticas em Pediatria. 1 ed. Rio de Janeiro: Guanabara Koogan, 2001, v. 1, p. 10-17.
RASKIN, S.; FAUCZ, F R . Aspectos Genéticos da Fibose Cística. In: CARAKUSHANSKY, GERSON. (Org.). Doenças Genéticas em Pediatria. 1 ed. Rio de Janeiro: Guanabara Koogan, 2000, v. , p. 257-257.
RASKIN, S.. A análise de DNA na determinação de paternidade: Mitos e verdades no limiar do século XXI. In: LEITE, EDUARDO OLIVEIRA et al. (Org.). Grandes temas da atualidade – DNA como meio de prova da filiação. 1 ed. Rio de Janeiro: Editora Forense, 2000, v. , p. 312-312.
RASKIN, S. Manual Prático do DNA. Curitiba, 1999.
RASKIN, S.; TOLEDO, S. R. C. ; BRUNONI, D. . Aspectos Genéticos em Doenças Pulmonares. In: CUKIER, ALBERTO; NAKATANI, JORGE; MORRONE, NELSON. (Org.). Pneumologia: Atualização e reciclagem. 2 ed. São Paulo: Editora Atheneu, 1998, v. 2, p. 9-9.
RASKIN, S.. Genética da Síndrome de Gilles Tourette. In: SANTOS, MARCOS G. PRAGANA DOS (Org.). Síndrome de Gilles de la Tourette: Tiques Nervosos e Transtornos de Comportamento Associados na Infância e Adolescência. 1 ed. São Paulo: Lemos Editorial, 1998, v. 1, p. -.
RASKIN, S.; PHILLIPS, J.A. III . Genes Pertinent to Human Endocrinology. In: RASKIN, SALOM (Org.). Genetic Maps. 6 ed.: S.J.O’Brien, 1993, v. 5, p. -.
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