Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia-Reference-Cited by-同舟云学术

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Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia

Published:2024-06 Issue:3 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Raslan Ivana R.¹^ORCID,Silva Thiago Yoshinaga Tonholo¹^ORCID,Kok Fernando¹^ORCID,Rodrigues Marcelo M.¹,Aragão Marcelo M.¹^ORCID,Pinho Ricardo S.¹^ORCID,França Marcondes C.¹,Barsottini Orlando G.¹^ORCID,Pedroso José Luiz¹^ORCID

Affiliation:

1. From the Department of Ataxia Unit of the Federal University of São Paulo (UNIFESP) (I.R.R., T.Y.T.S., O.G.B., J.L.P.); Neurology Department (F.K.), Hospital das Clínicas da Universidade de São Paulo and Mendelics; Department of Neurology and Neurosurgery (M.M.R., M.M.A., R.S.P.), Universidade Federal de São Paulo (UNIFESP); and Department of Neurology (M.C.F.), Universidade de Campinas (UNICAMP), Brazil.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200153

Reference39 articles.

1. A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias

2. Nonprogressive congenital ataxias

3. Developmental outcomes in children with congenital cerebellar malformations

4. De novopoint mutations in patients diagnosed with ataxic cerebral palsy

5. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

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