Contribution to clinical characterization of autosomal recessive hereditary ataxias

Contribution to clinical characterization of autosomal recessive hereditary ataxias

Bibliographic Details
Main Author:	Emília Katiane Embiruçu
Format:	Article
Language:	English
Published:	Academia Brasileira de Neurologia (ABNEURO) 2011-08-01
Series:	Arquivos de Neuro-Psiquiatria
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000500035&lng=en&tlng=en

Similar Items

Autosomal recessive ataxias: 20 types, and counting Ataxias autossômicas recessivas: 20 tipos e muito mais
by: Emília Katiane Embiruçu, et al.
Published: (2009-12-01)

Clinical Phenotypes of Autosomal Recessive Ataxias
by: J Gordon Millichap
Published: (2007-05-01)

Autosomal recessive cerebellar ataxias
by: Palau Francesc, et al.
Published: (2006-11-01)

Zebrafish Models of Autosomal Recessive Ataxias
by: Ana Quelle-Regaldie, et al.
Published: (2021-04-01)

The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
by: Poulami Majumder, et al.
Published: (2013-01-01)

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed
by: Jose Luiz Pedroso, et al.
Published: (2013-06-01)

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
by: Toni S. Pearson
Published: (2016-07-01)

Case report of autosomal recessive spastic ataxia of Charlevoix-Saguenay
by: Suresh Pandi, et al.
Published: (2014-01-01)

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia
by: M. Arias
Published: (2019-05-01)

Genes for autosomal recessive cerebellar ataxia: order from chaos?
by: Nemeth, A, et al.
Published: (2001)

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised alpha-fetoprotein.
by: Izatt, L, et al.
Published: (2004)

Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
by: François-Xavier Borruat, et al.
Published: (2017-10-01)

Autosomal recessive cerebellar ataxia caused by mutations in the <it>PEX2 </it>gene
by: Wanders Ronald J, et al.
Published: (2011-03-01)

Autosomal recessive hereditary hypotrichosis simplex: A case report
by: Esraa A. Shaheen, MD, et al.
Published: (2025-02-01)

Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
by: Dawn M. Hannah, et al.
Published: (2017-10-01)

Case series of autosomal recessive hereditary spastic paraplegia in adults
by: Rahul T Chakor, et al.
Published: (2021-01-01)

Bringing light into the darkness: autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene
by: Á. Martínez-Martín, et al.
Published: (2022-10-01)

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay
by: Teodora Chamova, et al.
Published: (2024-07-01)

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias
by: Hao-Ling Cheng, et al.
Published: (2021-10-01)

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the Gene
by: Rohan Sharma MD, et al.
Published: (2022-12-01)

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
by: Yuting Shi, et al.
Published: (2013-01-01)

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
by: Sylvie Gerber, et al.
Published: (2023-07-01)

Variants in MME are associated with autosomal‐recessive distal hereditary motor neuropathy
by: Daojun Hong, et al.
Published: (2019-09-01)

Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia
by: Cheng‐Tsung Hsiao, et al.
Published: (2024-07-01)

Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features
by: Diego Lopergolo, et al.
Published: (2024-02-01)

A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease
by: Narges Zare, et al.
Published: (2023-01-01)

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
by: Ranhui Duan, et al.
Published: (2016-01-01)

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
by: Németh, A, et al.
Published: (2000)

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia
by: Yusen Qiu, et al.
Published: (2024-04-01)

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy
by: Majed Alluqmani, et al.
Published: (2022-04-01)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family
by: J L Pedroso, et al.
Published: (2011-01-01)

Diplomyelia in a patient with a clinical suspicion of autosomal recessive spastic ataxia of Charlevoix-Saguenay type (ARSACS)
by: Dorota Dziewulska
Published: (2020-06-01)

R-Loops in proliferating cells but not in the brain : implications for AOA2 and other autosomal recessive ataxias
by: Yeo, Abrey J., et al.
Published: (2014)

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay Secondary to a Novel Mutation in the SACS Gene
by: Akhil Sahib, et al.
Published: (2024-10-01)

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20
by: Yuqi Shao, et al.
Published: (2024-04-01)

Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review
by: Sze Yuen Lew, et al.
Published: (2022-06-01)

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain
by: M. Arias, et al.
Published: (2022-05-01)

R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias.
by: Abrey J Yeo, et al.
Published: (2014-01-01)

SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
by: Lauren Swan, et al.
Published: (2018-08-01)

SACS mutation-positive autosomal recessive spastic ataxia of charlevoix saguenay (ARSACS) from Kerala
by: S Sheetal, et al.
Published: (2020-01-01)