Cargando…

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family

Detalles Bibliográficos
Autores principales:	Yang, Shi-Lin, Chen, Shu-Fen, Jiao, Yu-Qiong, Dong, Zhi-Yuan, Dong, Qiang, Han, Xiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2020
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174130/ https://www.ncbi.nlm.nih.gov/pubmed/32319254 http://dx.doi.org/10.3988/jcn.2020.16.2.333

Ejemplares similares

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

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report
por: Levchenko, Olga, et al.
Publicado: (2023)

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

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
por: Massey, Sean, et al.
Publicado: (2023)

A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family
por: Xu, Wei, et al.
Publicado: (2023)

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

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

Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report
por: Huang, Xin, et al.
Publicado: (2022)

Noted Tension Headache, Anxiety, and Depression in a Chinese Patient with Spinocerebellar Ataxia, Autosomal Recessive 10 Caused by a Novel Anoctamin 10 Mutation
por: Ma, Xiaoxi, et al.
Publicado: (2023)

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3
por: Li, Quan-Fu, et al.
Publicado: (2020)

Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17
por: Ruan, Miaohua, et al.
Publicado: (2022)

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

Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report
por: Haji, Shotaro, et al.
Publicado: (2023)

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

Spinocerebellar ataxia type 10 in Chinese Han
por: Wang, Kang, et al.
Publicado: (2015)

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
por: Yang, Zhikuan, et al.
Publicado: (2009)

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
por: Maia, Nuno, et al.
Publicado: (2020)

Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report
por: Liu, Rui-Han, et al.
Publicado: (2023)

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

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

Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
por: Eidhof, Ilse, et al.
Publicado: (2020)

Homozygous spinocerebellar ataxia type 3 in China: a case report
por: Chen, Yuchao, et al.
Publicado: (2021)

Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada
por: Alshimemeri, Sohaila, et al.
Publicado: (2023)

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family
por: Jiao, Xiaodong, et al.
Publicado: (2019)

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)

Spinocerebellar ataxia-10 with paranoid schizophrenia
por: Trikamji, Bhavesh, et al.
Publicado: (2015)

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
por: Ilyas, Muhammad, et al.
Publicado: (2020)

Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias
por: Chen, Jian-Wen, et al.
Publicado: (2015)

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
por: Karim, Noreen, et al.
Publicado: (2019)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
por: Li, Lin, et al.
Publicado: (2017)

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
por: Yasmeen, Afshan, et al.
Publicado: (2010)

Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
por: ten Kate, Leo P., et al.
Publicado: (2010)

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family
por: Kaul, Haiba, et al.
Publicado: (2010)

Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
por: Abbas, Seyyedha, et al.
Publicado: (2014)

Cognitive impairment in Spinocerebellar ataxia type 10
por: Moro, Adriana, et al.
Publicado: (2016)

Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review
por: Park, Jun Young, et al.
Publicado: (2020)

A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both
por: Gilliam, D., et al.
Publicado: (2014)

Spinocerebellar ataxia type 36 in the Han Chinese
por: Lee, Yi-Chung, et al.
Publicado: (2016)

Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing
por: Lu, Cong, et al.
Publicado: (2016)

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

Cannot write session to /tmp/vufind_sessions/sess_0r6og8s55e5k7b94o82kds2r6i