Salmo Raskin - Publications, H-index & Citations

Salmo Raskin

Institut national de la santé et de la recherche médicale

40H指数

290论文数

6.5K被引数

收录论文 70

发表时间

Exploring the genetic spectrum of parkinsonism in Brazil 探索巴西帕金森综合征的遗传谱

PARKINSONISM & RELATED DISORDERS

IF3.4

2026-09-01

PREAI

Ferreira, Matheus G.; Tesson, Christelle; Courtin, Thomas; de Macedo, Guilherme Lourenco; Tenorio, Renata Barreto; Raskin, Salmo; Lesage, Suzanne; Brice, Alexis; Teive, Helio A. G.

Cutis Verticis Gyrata in SPG11-Related Hereditary Spastic Paraplegia: A Potential Novel Association 斯帕格11相关遗传性痉挛性截瘫痭皮褶：一种潜在的全新关联

Movement Disorders Clinical Practice

IF2.7

2026-06-26

PREAI

Beatriz Cassarotti MD; Patricia Aurea Andreucci Martins Bonilha MD; Thabata Emanuelle Martins Nunes MD; Léo Coutinho MD; Luiz Eduardo Novis MD, PhD; Walter Oleschko Arruda MD, PhD; Salmo Raskin MD, PhD; Hélio A. Ghizoni Teive MD, PhD, FAAN

Somatosensory Evoked Potentials in Spinocerebellar Ataxia Type 3 and Type 10 脊髓小脑共济失调3型和10型中的体感诱发电位

The Cerebellum

IF0

2026-04-17

OAAI

Léo Coutinho; Otto Jesus Hernandez Fustes; Carlos Henrique Ferreira Camargo; Gabriel Abrahão Stoliar; Francisco Manoel Branco Germiniani; Salmo Raskin; Tetsuo Ashizawa; Cláudia Suemi Kamoi Kay; Paulo José Lorenzoni; Renata Dal-Prá Ducci; Rosana Herminia Scola; Hélio A. Ghizoni Teive

Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension VCP基因突变导致伴有或不伴有肺动脉高压的亚当斯-奥利弗综合征

Genetics in Medicine

IF6.2

2026-04-13

OAAI

Anna LEHMAN; Sana AHMED; Arezoo MOHAJERI; Alison M. BEREZUK; Dhiraj MANNAR; Spencer CHOLAK; Katharine S. TUTTLE; James T. BENNETT; Jeanine Aparecida MAGNO; Mark HANNIBAL; Gordana KOVACEVIC; Vladimir KUBUROVIĆ; M.E. Suzanne LEWIS; Oana MOLDOVAN; Zoe NELSON; Salmo RASKIN; Anthony M. VANDERSTEEN; Jared C. ROACH; Sriram SUBRAMANIAM; Millan S. PATEL

Targeting Cognitive Dysfunction in Spinocerebellar Ataxia Type 2 Through Digital Cognitive Training 通过数字认知训练靶向治疗脊髓小脑共济失调2型中的认知功能障碍

The Cerebellum

IF0

2026-03-02

OAAI

Andressa Aline Vieira; Renata Barreto Tenório; Salmo Raskin; Karla Patricia Figueroa; Stefan M Pulst; Amer Cavalheiro Handam; Hélio Afonso Ghizoni Teive; Carlos Henrique Ferreira Camargo

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2025-11-01

OAAI

Reis, Linda M.; Bellingham, James; Motta, Fabiana Louise; Jurkute, Neringa; Raskin, Salmo; Ramos, Fabiana; Mahroo, Omar A.; Moosajee, Mariya; Arno, Gavin; V. Semina, Elena

Cognitive Deficits in Spinocerebellar Ataxia Type 2: A Comparative Analysis of Pre-ataxic and Ataxic Stages 脊髓小脑共济失调2型的认知缺陷：前共济失调期与共济失调期的比较分析

The Cerebellum

IF0

2025-10-10

PREAI

Renata Barreto Tenorio; Andressa Aline Vieira; Walter Oleschko Arruda; Gustavo Leite Franklin; Gustavo da Cunha Ribas; João Filipe de Oliveira; Salmo Raskin; Karla Pattie Figueroa; Stefan M. Pulst; Hélio Afonso Ghizoni Teive; Carlos Henrique Ferreira Camargo

SPOAN Syndrome in Southern Brazil: Case Report and New Insights 南巴西的SPOAN综合征：病例报告与新见解

Movement Disorders Clinical Practice

IF2.7

2025-10-03

PREAI

Luis Eduardo Borges de Macedo Zubko MD; Salmo Raskin MD, PhD; Camila Nemetz Kohler MD; Hélio Afonso Ghizoni Teive MD, MSc, PhD, FAAN

Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather 涉及TBX4的一个CNV缺失在三位患有肺部发育障碍的已故同胞及其轻度受影响的母亲和祖父中表现出高度可变的表达性。

Clinical Genetics

IF2.3

2025-06-21

PREAI

Przemyslaw Szafranski; Tomasz Gambin; Michal Kadlof; Michał Denkiewicz; Dariusz Plewczynski; Hyun Jeong Kim; Gail Deutsch; Nahir Cortes-Santiago; Salmo Raskin; Paweł Stankiewicz

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement 脑脊液中的硫酸乙酰肝素作为评估II型粘多糖贮积症患者疾病严重程度和治疗监测的生物标志物: 立场声明

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-11-26

OAAI

Giugliani, Roberto; de Siqueira, Ana Cecilia Menezes; Santos, Emerson Santana; Leao, Emilia Katiane E. A.; Carvalho, Gerson da Silva; Santos, Mara Lucia Schmitz Ferreira; Raskin, Salmo; Martins, Ana Maria

Global Presence and Penetrance of CSF1R-Related Disorder

NEUROLOGY-GENETICS

IF3.7

2024-10-01

PREAI

Dulski, Jaroslaw; Baker, Matthew; Banks, Samantha A.; Bayat, Michael; Bruffaerts, Rose; Cruz, Gabriela Ortiz; Disserol, Caio C.; Fisher, Kristen S.; Jose, Jainy N.; Kalman, Bernadette; Kantarci, Orhun H.; Maltsev, Dmytro; Middleton, Catherine; Novotni, Gabriela; Plaseska-Karanfilska, Dijana; Raskin, Salmo; Souza, Josiane; Teive, Helio A.; Wszolek, Zbigniew K.

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients

PARKINSONISM & RELATED DISORDERS

IF3.4

2024-02-01

PREAI

Novis, Luiz Eduardo; Alavi, Shahryar; Pellerin, David; Coleta, Marcus Vinicius Della; Raskin, Salmo; Spitz, Mariana; Cortese, Andrea; Houlden, Henry; Teive, Helio Afonso

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

MOVEMENT DISORDERS

IF7.6

2023-11-14

OAAI

Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K.; Dabir, Tabib; Morrison, Patrick J.; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E.; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E.; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J. M.; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martinez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D.; Becker, Esther B. E.; Nemeth, Andrea H.

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

NEUROLOGY-GENETICS

IF3.7

2023-10-01

OAAI

Novis, Luiz Eduardo; Frezatti, Rodrigo S.; Pellerin, David; Tomaselli, Pedro J.; Alavi, Shahryar; Della Coleta, Marcus Vinicius; Spitz, Mariana; Dicaire, Marie-Josee; Iruzubieta, Pablo; Pedroso, Jose Luiz; Barsottini, Orlando; Cortese, Andrea; Danzi, Matt C.; Franca Jr, Marcondes C.; Brais, Bernard; Zuchner, Stephan; Houlden, Henry; Raskin, Salmo; Marques, Wilson; Teive, Helio A.

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2023-08-08

OAAI

Efthymiou, Stephanie; Novis, Luiz E. E.; Koutsis, Georgios; Koniari, Chrysoula; Maroofian, Reza; Turchetti, Valentina; Velonakis, Georgios; Vasconcellos, Luiz F. F.; Raskin, Salmo; Srinivasan, Varunvenkat M. M.; Pagnamenta, Alistair T. T.; Arun, Yaramanchanahalli B. B.; Kinhal, Uddhava V. V.; Gowda, Vykuntaraju K. K.; Teive, Helio A. G.; Houlden, Henry

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

NATURE GENETICS

IF31.8

2023-06-29

OAAI

Tenney, Alan P.; Di Gioia, Silvio Alessandro; Webb, Bryn D.; Chan, Wai-Man; de Boer, Elke; Garnai, Sarah J.; Barry, Brenda J.; Ray, Tammy; Kosicki, Michael; Robson, Caroline D.; Zhang, Zhongyang; Collins, Thomas E.; Gelber, Alon; Pratt, Brandon M.; Fujiwara, Yuko; Varshney, Arushi; Lek, Monkol; Warburton, Peter E.; Van Ryzin, Carol; Lehky, Tanya J.; Zalewski, Christopher; King, Kelly A.; Brewer, Carmen C.; Thurm, Audrey; Snow, Joseph; Facio, Flavia M.; Narisu, Narisu; Bonnycastle, Lori L.; Swift, Amy; Chines, Peter S.; Bell, Jessica L.; Mohan, Suresh; Whitman, Mary C.; Staffieri, Sandra E.; Elder, James E.; Demer, Joseph L.; Torres, Alcy; Rachid, Elza; Al-Haddad, Christiane; Boustany, Rose-Mary; Mackey, David A.; Brady, Angela F.; Fenollar-Cortes, Maria; Fradin, Melanie; Kleefstra, Tjitske; Padberg, George W.; Raskin, Salmo; Sato, Mario Teruo; Orkin, Stuart H.; Parker, Stephen C. J.; Hadlock, Tessa A.; Vissers, Lisenka E. L. M.; van Bokhoven, Hans; Jabs, Ethylin Wang; Collins, Francis S.; Pennacchio, Len A.; Manoli, Irini; Engle, Elizabeth C.

Clinical, Electroencephalographic and Neuroimage Findings of Patients with Cerebellar Ataxia and Epilepsy

NEUROLOGY

IF8.5

2023-04-25

PREAI

Cassou, Emanuel; De Paola, Luciano; Raskin, Salmo; Marques, Paula; Ali, Quratulain Zulfiqar; Qaiser, Farah; Andrade, Danielle; Teive, Helio Afonso

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

BRAIN

IF11.7

2021-03-25

OAAI

Sanderson, Leslie E.; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A.; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C.; Nikoncuk, Anita; Kuhn, Nikolas A.; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Dalla Rosa Vieira, Luana Gabriela; Mombach, Romulo; Ahangari, Najmeh; Damaceno Silveira, Taina Regina; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M.; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A.; Binhumaid, Faisal S.; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M.; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A. Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A.; Karimiani, Ehsan Ghayoor; Meyer, Brian F.; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T.; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M.; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J.; Kaya, Namik

Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients

PARKINSONISM & RELATED DISORDERS

IF3.4

2020-09-01

PREAI

Meira, Alex Tiburtino; Arruda, Walter Oleschko; Ono, Sergio Eiji; Franklin, Gustavo Leite; de Carvalho Neto, Arnolfo; Raskin, Salmo; Ashizawa, Tetsuo; Camargo, Carlos Henrique F.; Teive, Helio A. G.

A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate AHRR基因作为唇裂伴或不伴腭裂候选基因的综合分析

ageing research reviews

IF4.2

2020-07-01

PREAI

Werner Linnenkamp, Bianca Domit; Raskin, Salmo; Esposito, Selene Elifio; Herai, Roberto Hirochi

研究方向