Cargando…

Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy

BACKGROUND: Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of diseases characterized by exclusive degeneration of peripheral motor nerves, while only 20.0–47.8% of dHMN patients are genetically identified. Recently, GGC expansion in the 5’UTR of NOTCH2NLC has been associated with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wu, Chengsi, Xiang, Haijie, Chen, Ran, Zheng, Yilei, Zhu, Min, Chen, Shuyun, Yu, Yanyan, Peng, Yun, Yu, Yaqing, Deng, Jianwen, Zhou, Meihong, Hong, Daojun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9082376/ https://www.ncbi.nlm.nih.gov/pubmed/35297556 http://dx.doi.org/10.1002/acn3.51543

Ejemplares similares

Variants in MME are associated with autosomal‐recessive distal hereditary motor neuropathy
por: Hong, Daojun, et al.
Publicado: (2019)

Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder
por: Shen, Yu, et al.
Publicado: (2022)

A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy
por: Feng, Shu‐Yan, et al.
Publicado: (2018)

Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
por: Dong, Hai-Lin, et al.
Publicado: (2021)

Benign monomelic amyotrophy of lower limb in a cohort of chinese patients
por: Wang, Lulu, et al.
Publicado: (2021)

A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V
por: Yu, Xueying, et al.
Publicado: (2018)

Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families
por: Xie, Yongzhi, et al.
Publicado: (2020)

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy
por: Alluqmani, Majed, et al.
Publicado: (2022)

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy
por: Yu, Jiaxi, et al.
Publicado: (2021)

Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan
por: Lin, Chao-Wen, et al.
Publicado: (2021)

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies
por: Lupo, Vincenzo, et al.
Publicado: (2016)

Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V
por: Chung, Peter, et al.
Publicado: (2018)

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
por: Perez-Siles, Gonzalo, et al.
Publicado: (2020)

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy
por: Jacquier, Arnaud, et al.
Publicado: (2022)

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy
por: Lee, Jessica J. Y., et al.
Publicado: (2016)

Urine cytological study in patients with clinicopathologically confirmed neuronal intranuclear inclusion disease
por: Zhou, Yiyi, et al.
Publicado: (2022)

Case report: Reversible encephalopathy associated with liposomal amphotericin B in a patient with cryptococcal meningitis
por: Luo, Si, et al.
Publicado: (2022)

GGC Repeat Expansion in the NOTCH2NLC Gene Is Associated With a Phenotype of Predominant Motor–Sensory and Autonomic Neuropathy
por: Wang, Hui, et al.
Publicado: (2021)

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies
por: Salter, Claire G., et al.
Publicado: (2018)

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
por: Marcos, Ana T., et al.
Publicado: (2020)

The polyG diseases: a new disease entity
por: Liufu, Tongling, et al.
Publicado: (2022)

Genetic spectrum of hereditary neuropathies with onset in the first year of life
por: Baets, Jonathan, et al.
Publicado: (2011)

Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy
por: Mironovich, Olga, et al.
Publicado: (2020)

Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy
por: Liu, Xiaoxuan, et al.
Publicado: (2021)

Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy
por: Cutrupi, Anthony N, et al.
Publicado: (2022)

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy
por: Motley, William W., et al.
Publicado: (2020)

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
por: Smith, Ian C., et al.
Publicado: (2023)

Developments in the Treatment of Leber Hereditary Optic Neuropathy
por: Chen, Benson S., et al.
Publicado: (2022)

Hereditary motor and sensory neuropathy with SOD1-mutant: A case report
por: Luo, Zhong, et al.
Publicado: (2022)

Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation
por: Jiang, Kaiyan, et al.
Publicado: (2022)

Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles
por: Jiang, Nan, et al.
Publicado: (2023)

Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement
por: Oh, Jung-Hwan, et al.
Publicado: (2014)

Talectomy for Equinovarus Deformity in Family Members with Hereditary Motor and Sensory Neuropathy Type I
por: Georgiev, Hristo, et al.
Publicado: (2014)

Hereditary and Sensory Autonomic Neuropathies
por: Khaledi, Mojdeh, et al.
Publicado: (2012)

Neurological update: hereditary neuropathies
por: Kramarz, Caroline, et al.
Publicado: (2022)

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
por: Bugiardini, Enrico, et al.
Publicado: (2017)

Candidate Modifier Genes for the Penetrance of Leber’s Hereditary Optic Neuropathy
por: Cheng, Hui-Chen, et al.
Publicado: (2022)

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8
por: Bouhy, Delphine, et al.
Publicado: (2017)

Psychometric Validity of the Visual Function Index in Leber Hereditary Optic Neuropathy
por: Chen, Benson S., et al.
Publicado: (2023)

Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation
por: Chu, Xujun, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_7iug4n5tp0hhl842bsibtkmdqm