Cargando…

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene

Detalles Bibliográficos
Autores principales:	Agarwal, Ayush, Garg, Divyani, Kharat, Akash, Qavi, Abdul
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2020
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313614/ https://www.ncbi.nlm.nih.gov/pubmed/32606552 http://dx.doi.org/10.4103/aian.AIAN_670_19

Ejemplares similares

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

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 (ARSACS): expanding the genetic, clinical and imaging spectrum
por: Synofzik, Matthis, et al.
Publicado: (2013)

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

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

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
por: Palmio, Johanna, et al.
Publicado: (2016)

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)

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene
por: Srikajon, Jindapa, 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)

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

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

Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Tzoulis, Charalampos, et al.
Publicado: (2013)

Participation and Functional Independence in Adults With Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Muslemani, Samar, et al.
Publicado: (2022)

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

Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome
por: Tremblay, Marjolaine, et al.
Publicado: (2022)

Molecular Identity and Location Influence Purkinje Cell Vulnerability in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay Mice
por: Toscano Márquez, Brenda, et al.
Publicado: (2021)

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay
por: Bradshaw, Teisha Y., et al.
Publicado: (2016)

From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay
por: Gagnon, Cynthia, et al.
Publicado: (2018)

Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Ding, Man, et al.
Publicado: (2017)

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Louit, Aurélie, et al.
Publicado: (2023)

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients
por: Pablo, Luis E, et al.
Publicado: (2011)

Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay
por: Lessard, Isabelle, et al.
Publicado: (2021)

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases
por: Zaman, Qaiser, et al.
Publicado: (2023)

Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature
por: Al-Ajmi, Abdullah, et al.
Publicado: (2020)

A rehabilitation program to increase balance and mobility in ataxia of Charlevoix-Saguenay: An exploratory study
por: Lessard, Isabelle, et al.
Publicado: (2022)

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

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

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

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

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

A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
por: Yousaf, Hammad, et al.
Publicado: (2022)

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia
por: Vermeer, Sascha, et al.
Publicado: (2008)

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia
por: Vermeer, Sascha, et al.
Publicado: (2008)

Case Series of Autosomal Recessive Hereditary Spastic Paraplegia in Adults
por: Chakor, Rahul T., et al.
Publicado: (2021)

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

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

Early-Onset Spastic Ataxia Due to a Novel Mutation of the SACS Gene – A Case Report from North India with a Review of Indian Literature
por: Mohan, Midhun, et al.
Publicado: (2023)

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family
por: Algahtani, Hussein, et al.
Publicado: (2019)

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

Cannot write session to /tmp/vufind_sessions/sess_gk25iadng7srqr6an2ijaodhmt