Charcot Marie Tooth disease type 4J with complex central nervous system features-Reference-Cited by-同舟云学术

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Charcot Marie Tooth disease type 4J with complex central nervous system features

Published:2018-01-22 Issue:2 Volume:5 Page:222-225
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Orengo James P.¹,Khemani Pravin²,Day John W.³,Li Jun⁴,Siskind Carly E.⁵

Affiliation:

1. Department of Neurology; Baylor College of Medicine; Houston Texas

2. Department of Neurology; University of Texas Southwestern Medical Center; Dallas Texas

3. Department of Neurology; Stanford University; Stanford California

4. Department of Neurology; Vanderbilt University; Nashville Tennessee

5. Neurosciences Department; Stanford Health Care; Palo Alto California

Funder

National Institutes of Health

National Institute of Neurological Disorders and Stroke

National Center for Advancing Translational Sciences

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Reference10 articles.

1. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis;Fridman;J Neurol Neurosurg Psychiatry,2015

2. Loss of Fig 4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy;Vaccari;Hum Mol Genet,2015

3. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG 4;Nicholson;Brain,2011

4. ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder;Ikonomov;J Biol Chem,2010

5. A new mutation in FIG 4 causes a severe form of CMT4J involving TRPV4 in the pathogenic cascade;Gentil;J Neuropathol Exp Neurol,2017

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1. Clinical and genetic features of patients suffering from CMT4J;Journal of Neurology;2023-11-11

2. Reduction of a-synuclein aggregates by PIKfyve inhibition via TFEB-mediated lysosomal biogenesis in a Parkinson disease model;2023-10-24

3. Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects;Frontiers in Pediatrics;2022-10-21

4. Roles of PIKfyve in multiple cellular pathways;Current Opinion in Cell Biology;2022-06

5. TRPMLs and TPCs: Targets for lysosomal storage and neurodegenerative disease therapy?;Cell Calcium;2022-05

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