Cargando…

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nam, Soo Hyun, Hong, Young Bin, Hyun, Young Se, Nam, Da Eun, Kwak, Geon, Hwang, Sun Hee, Choi, Byung-Ok, Chung, Ki Wha
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society for Molecular and Cellular Biology 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870185/ https://www.ncbi.nlm.nih.gov/pubmed/27025386 http://dx.doi.org/10.14348/molcells.2016.2288

Ejemplares similares

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy
por: Hong, Young Bin, et al.
Publicado: (2016)

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family
por: Choi, Ye Ji, et al.
Publicado: (2015)

Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea
por: Lim, Si On, et al.
Publicado: (2022)

Gene Therapy Options as New Treatment for Inherited Peripheral Neuropathy
por: Thenmozhi, Rajarathinam, et al.
Publicado: (2020)

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
por: Laššuthová, Petra, et al.
Publicado: (2016)

Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis
por: Lee, Geon Seong, et al.
Publicado: (2021)

Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy
por: Kim, Young Hee, et al.
Publicado: (2019)

Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy
por: Park, Jin, et al.
Publicado: (2013)

p75 and neural cell adhesion molecule 1 can identify pathologic Schwann cells in peripheral neuropathies
por: Kim, Young Hee, et al.
Publicado: (2019)

PINK1 and Parkin Ameliorate the Loss of Motor Activity and Mitochondrial Dysfunction Induced by Peripheral Neuropathy-Associated HSPB8 Mutants in Drosophila Models
por: Kang, Kyong-hwa, et al.
Publicado: (2023)

miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22
por: Lee, Ji-Su, et al.
Publicado: (2019)

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients
por: Jung, Na Young, et al.
Publicado: (2022)

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1
por: LEE, JINHO, et al.
Publicado: (2016)

Cellular reprogramming and inherited peripheral neuropathies: perspectives and challenges
por: Saporta, Mario A.
Publicado: (2015)

Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies
por: Haidar, Mansour, et al.
Publicado: (2017)

Clinical and Neuroimaging Features in Charcot–Marie–Tooth Patients with GNB4 Mutations
por: Kwon, Hye Mi, et al.
Publicado: (2021)

Pharmacogenomics of Vincristine‐Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes
por: Wright, Galen E.B., et al.
Publicado: (2018)

Overexpression of mutant HSP27 causes axonal neuropathy in mice
por: Lee, Jinho, et al.
Publicado: (2015)

Plasma neurofilament light chain concentration in the inherited peripheral neuropathies
por: Sandelius, Åsa, et al.
Publicado: (2018)

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
por: Hong, Young Bin, et al.
Publicado: (2013)

PINK1 alleviates thermal hypersensitivity in a paclitaxel-induced Drosophila model of peripheral neuropathy
por: Kim, Young Yeon, et al.
Publicado: (2020)

A Database of Caenorhabditis elegans Locomotion and Body Posture Phenotypes for the Peripheral Neuropathy Model
por: Chung, Ki Wha, et al.
Publicado: (2020)

Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice
por: Lee, Ji-Su, et al.
Publicado: (2020)

Distinctive patterns of peripheral neuropathy across the spectrum of plasma cell disorders
por: Byun, Ja Min, et al.
Publicado: (2019)

Correction: PINK1 alleviates thermal hypersensitivity in a paclitaxel-induced Drosophila model of peripheral neuropathy
por: Kim, Young Yeon, et al.
Publicado: (2021)

Gait parameters as tools for analyzing phenotypic alterations of a mouse model of Charcot-Marie-Tooth disease
por: Hwang, Sun Hee, et al.
Publicado: (2021)

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing
por: Drew, Alexander P, et al.
Publicado: (2015)

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations
por: Kim, Hyun Su, et al.
Publicado: (2021)

Comparison of Clinical Symptoms and Neurophysiological Findings in Patients With Chemotherapy Induced Peripheral Neuropathy
por: Cho, Kye Hee, et al.
Publicado: (2022)

Calcimimetic restores diabetic peripheral neuropathy by ameliorating apoptosis and improving autophagy
por: Chung, You Chul, et al.
Publicado: (2018)

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
por: Antoniadi, Thalia, et al.
Publicado: (2015)

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation
por: Cutrupi, Anthony N., et al.
Publicado: (2018)

Inherited mitochondrial optic neuropathies
por: Yu-Wai-Man, P, et al.
Publicado: (2009)

Classification and diagnosis of the inherited neuropathies
por: Reilly, Mary M.
Publicado: (2009)

Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve
por: Kwon, Joo Young, et al.
Publicado: (2009)

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases
por: Park, Soojin, et al.
Publicado: (2022)

Whole-genome sequencing in clinically diagnosed Charcot–Marie–Tooth disease undiagnosed by whole-exome sequencing
por: Kim, Young-gon, et al.
Publicado: (2023)

Relationships between Brachial-Ankle Pulse Wave Velocity and Peripheral Neuropathy in Type 2 Diabetes
por: Ha, Byung Kil, et al.
Publicado: (2012)

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series
por: Lerat, Justine, et al.
Publicado: (2019)

Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
por: Argente‐Escrig, Herminia, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_radnhoh5gh4bv76fkqialon0gk