Cargando…

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

BACKGROUND AND OBJECTIVES: The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the A...

Descripción completa

Detalles Bibliográficos
Autores principales:	Massey, Sean, Guo, Yiran, Riley, Lisa G., Van Bergen, Nicole J., Sandaradura, Sarah A., McCusker, Elizabeth, Tchan, Michel, Thauvin-Robinet, Christel, Thomas, Quentin, Moreau, Thibault, Davis, Mark, Smits, Daphne, Mancini, Grazia M.S., Hakonarson, Hakon, Cooper, Sandra, Christodoulou, John
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2023
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872716/ https://www.ncbi.nlm.nih.gov/pubmed/36698452 http://dx.doi.org/10.1212/NXG.0000000000200051

Ejemplares similares

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Zebrafish Models of Autosomal Recessive Ataxias
por: Quelle-Regaldie, Ana, et al.
Publicado: (2021)

Systematic review of autosomal recessive ataxias and proposal for a classification
por: Beaudin, Marie, et al.
Publicado: (2017)

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity
por: Aida, Izumi, et al.
Publicado: (2021)

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
por: Pearson, Toni S.
Publicado: (2016)

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
por: Sevin, Caroline, et al.
Publicado: (2011)

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

Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
por: Incecik, Faruk, et al.
Publicado: (2018)

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population
por: Incecik, Faruk, et al.
Publicado: (2020)

A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia
por: Votsi, Christina, et al.
Publicado: (2022)

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
por: Shi, Yuting, et al.
Publicado: (2013)

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy
por: Lynch, David S., et al.
Publicado: (2018)

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family
por: Yang, Shi-Lin, et al.
Publicado: (2020)

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
por: Nicolaou, Paschalis, et al.
Publicado: (2008)

STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
por: Heimdal, Ketil, et al.
Publicado: (2014)

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
por: Hamza, Wahiba, et al.
Publicado: (2015)

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
por: Duan, Ranhui, et al.
Publicado: (2016)

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
por: Zagnoli-Vieira, Guido, et al.
Publicado: (2018)

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration
por: Bagaria, Jaya, et al.
Publicado: (2022)

Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene
por: Sharma, Rohan, et al.
Publicado: (2022)

The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
por: Beaudin, Marie, et al.
Publicado: (2019)

Update on oral-facial-digital syndromes (OFDS)
por: Franco, Brunella, et al.
Publicado: (2016)

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
por: Synofzik, Matthis, et al.
Publicado: (2013)

R-Loops in Proliferating Cells but Not in the Brain: Implications for AOA2 and Other Autosomal Recessive Ataxias
por: Yeo, Abrey J., et al.
Publicado: (2014)

SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment
por: Swan, Lauren, et al.
Publicado: (2018)

SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala
por: Sheetal, S, et al.
Publicado: (2020)

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings
por: Saito, Rie, et al.
Publicado: (2020)

Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Martinelli, Chiara, et al.
Publicado: (2020)

Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease
por: Clark, Elisia, et al.
Publicado: (2018)

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Habibzadeh, Parham, et al.
Publicado: (2020)

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

Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Cho, Hyuna, et al.
Publicado: (2021)

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
por: Rajan, Deepa S., et al.
Publicado: (2022)

Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review
por: Lew, Sze Yuen, et al.
Publicado: (2022)

Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan
por: Aida, Izumi, et al.
Publicado: (2022)

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia
por: Hartley, Jessica N., et al.
Publicado: (2012)

Correction: R-Loops in Proliferating Cells but Not in the Brain: Implications for AOA2 and Other Autosomal Recessive Ataxias
Publicado: (2014)

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
por: Morino, Hiroyuki, et al.
Publicado: (2014)

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
por: Mendoza-Ferreira, Natalia, et al.
Publicado: (2018)

Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
por: Pensabene, Maria Claudia, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_sr53meqtbvpvo5n4ganlspgsi1