Cargando…

Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia

Detalles Bibliográficos
Autores principales:	Park, Hyung Jun, Lee, Myung Jun, Lee, Jee Eun, Park, Kee Duk, Choi, Young-Chul
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2018
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897212/ https://www.ncbi.nlm.nih.gov/pubmed/29629531 http://dx.doi.org/10.3988/jcn.2018.14.2.248

Ejemplares similares

Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)
por: Schlang, Katharina J, et al.
Publicado: (2008)

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
por: Kim, Tae-Hyoung, et al.
Publicado: (2014)

Erratum: Mutation Analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
por: Kim, Tae-Hyoung, et al.
Publicado: (2014)

De novo REEP2 missense mutation in pure hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017)

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families
por: Ma, Xinran, et al.
Publicado: (2020)

Naringenin Ameliorates Drosophila ReepA Hereditary Spastic Paraplegia-Linked Phenotypes
por: Napoli, Barbara, et al.
Publicado: (2019)

Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31
por: Fisher, K. M., et al.
Publicado: (2013)

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia
por: Lan, Min-Yu, et al.
Publicado: (2014)

Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review
por: Richard, Sébastien, et al.
Publicado: (2017)

Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model
por: Watanabe, Fumihiro, et al.
Publicado: (2013)

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
por: Pennings, Maartje, et al.
Publicado: (2019)

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

Inhibition of ER stress improves progressive motor deficits in a REEP1-null mouse model of hereditary spastic paraplegia
por: Wang, Bingjie, et al.
Publicado: (2020)

Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model: Erratum
Publicado: (2014)

Multigeneration family with dominant SPG30 hereditary spastic paraplegia
por: Roda, Ricardo H., et al.
Publicado: (2017)

Hereditary Spastic Paraplegia in Koreans: Clinical Characteristics and Factors Influencing the Disease Severity
por: Do, Jong Geol, et al.
Publicado: (2022)

Cold temperature improves mobility and survival in Drosophila models of autosomal-dominant hereditary spastic paraplegia (AD-HSP)
por: Baxter, Sally L., et al.
Publicado: (2014)

Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I
por: Hedera, Peter, et al.
Publicado: (2018)

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene
por: Cheon, Chong Kun, et al.
Publicado: (2017)

Hereditary Spastic Paraplegia: An Update
por: Meyyazhagan, Arun, et al.
Publicado: (2022)

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
por: Chen, Xueping, et al.
Publicado: (2020)

Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling
por: Ho, Nicolas James, et al.
Publicado: (2023)

Lipids in the Physiopathology of Hereditary Spastic Paraplegias
por: Darios, Frédéric, et al.
Publicado: (2020)

Movement disorders in hereditary spastic paraplegias
por: Pedroso, Jose Luiz, et al.
Publicado: (2023)

Clinical analysis in patients with SPG11 hereditary spastic paraplegia
por: Kang, You-Ri, et al.
Publicado: (2023)

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
por: Rudenskaya, G. E., et al.
Publicado: (2020)

Hereditary spastic paraplegia with thin corpus callosum
por: Raina, Sujeet, et al.
Publicado: (2009)

Lysosome Function and Dysfunction in Hereditary Spastic Paraplegias
por: Edmison, Daisy, et al.
Publicado: (2021)

ER Morphology in the Pathogenesis of Hereditary Spastic Paraplegia
por: Sonda, Sonia, et al.
Publicado: (2021)

Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia
por: Tadepalle, Nimesha, et al.
Publicado: (2021)

Dysarthria in hereditary spastic paraplegia type 4
por: Jacinto-Scudeiro, Lais Alves, et al.
Publicado: (2022)

Selective Dorsal Rhizotomy for Treatment of Hereditary Spastic Paraplegia-Associated Spasticity in 37 Patients
por: Park, TS, et al.
Publicado: (2021)

Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia
por: Yang, Jiwon, et al.
Publicado: (2019)

Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)
por: Lee, Hyungwoo, et al.
Publicado: (2020)

Rescue axonal defects by targeting mitochondrial dynamics in hereditary spastic paraplegias
por: Mou, Yongchao, et al.
Publicado: (2019)

Genetic and phenotypic characterization of complex hereditary spastic paraplegia
por: Kara, Eleanna, et al.
Publicado: (2016)

Clinical and genetic study of hereditary spastic paraplegia in Canada
por: Chrestian, Nicolas, et al.
Publicado: (2016)

Clinical Trial Designs and Measures in Hereditary Spastic Paraplegias
por: Trummer, Brian, et al.
Publicado: (2018)

Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children
por: Kamate, Mahesh, et al.
Publicado: (2019)

Pure or Complex Hereditary Spastic Paraplegia Type 4?
por: Finsterer, Josef
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_r4f6pe020e6qm5j2qdc01k8tt0