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Publicações Científicas

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: 10.1590/0004-282x20200017.

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

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

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

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

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, 2018. doi: https://doi.org/10.1111/jsr.12688

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

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

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, , 2018. doi: https://doi.org/10.1073/pnas.1707663115

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

 

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

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.

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. MUELLER-FELBER, 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

MORO, ADRIANA ; MUNHOZ, RENATO P. ; MOSCOVICH, MARIANA ; ARRUDA, WALTER O. ; RASKIN, SALMO ; SILVEIRA-MORIYAMA, LAURA ; ASHIZAWA, TETSUO ; TEIVE, HÉLIO A. G. . Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10. CEREBELLUM, v. 00, p. 00-0, 2017. DOI: https://doi.org/10.1007/s12311-017-0869-2

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

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 ; KAPFERER-SEEBACHER, 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

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

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

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

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/10.1590/0004-282x20160125

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

 

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

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

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

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

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

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 FERNÁNDEZ-JAÉN, 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

PEDROSO, JOSÉ LUIZ ; ABRAHAO, AGESSANDRO ; ISHIKAWA, KINYA ; RASKIN, SALMO ; DE SOUZA, PAULO VICTOR SGOBBI ; DE REZENDE PINTO, WLADIMIR BOCCA VIEIRA ; BRAGA-NETO, 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

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

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

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

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

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

LORENZONI, PAULO JOSÉ ; CARDOSO, ELAINE ; CRIPPA, ANA C. S. ; LOURENÇO, CHARLES MARQUES ; SOUZA, FERNANDA TIMM SEABRA ; GIUGLIANI, ROBERTO ; SARAIVA-PEREIRA, 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

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

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

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

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

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

RASKIN, S.; SOUZA, M. ; MEDEIROS, M. C. ; MANFRON, M. ; CHONG E SILVA, D.C. . Richieri-costa and pereira syndrome: Severe phenotype. American Journal of Medical Genetics. Part A, v. 161A, 2013. PMID: 23794199. DOI: 10.1002/ajmg.a.35989

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

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

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

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/s0004-282x2013000100015

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

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. ; Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation, v. 34, p. 296-300, 2013. PMID: 23086778. DOI: 10.1002/humu.22241

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: 10429019. DOI: 10.1542/peds.104.2.325

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

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

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: 22970919. doi: 10.1056/NEJMoa1200395

GARDINER, A. R. ; BHATIA, K. P. ; STAMELOU, M. ; DALE, R. C. ; KURIAN, M. A. ; SCHNEIDER, S. A. ; WALI, G. M. ; COUNIHAN, T. ; SCHAPIRA, A. H. ; SPACEY, S. D. ; VALENTE, E.-M. ; SILVEIRA-MORIYAMA, L. ; TEIVE, H. A. G. ; RASKIN, S. ; SANDER, J. W. ; LEES, A. ; WARNER, T. ; KULLMANN, D. M. ; WOOD, N. W. ; HANNA, M. ; HOULDEN, H. . PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology (Online), v. 79, p. 2115-2121, 2012. PMID: 23077024. DOI: 10.1212/WNL.0b013e3182752c5a

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.

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.

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

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

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

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

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

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

 

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

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