Charcot-Marie-Tooth disease and pathways to molecular based therapies-Reference-Cited by-同舟云学术

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Charcot-Marie-Tooth disease and pathways to molecular based therapies

Published:2014-05-09 Issue:5 Volume:86 Page:422-431
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Harel T.¹,Lupski J.R.¹²³⁴

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston TX USA

2. Department of Pediatrics; Baylor College of Medicine; Houston TX USA

3. Texas Children's Hospital; Houston TX USA

4. Human Genome Sequencing Center; Baylor College of Medicine; Houston TX USA

Funder

National Institute of Neurological Disorders and Stroke

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference112 articles.

1. Genetic and clinical aspects of Charcot-Marie-Tooth's disease;Skre;Clin Genet,1974

2. Practice parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation;England;Neurology,2009

3. Practice parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation;England;Neurology,2009

4. The clinical features of hereditary motor and sensory neuropathy types I and II;Harding;Brain,1980

5. Genetic aspects of hereditary motor and sensory neuropathy (types I and II);Harding;J Med Genet,1980

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1. A novel HSPB1S139F mouse model of Charcot-Marie-Tooth Disease;Prostaglandins & Other Lipid Mediators;2023-12

2. Dysregulation of organelle membrane contact sites in neurological diseases;Neuron;2022-08

3. Loss‐of‐function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system;Glia;2020-02-20

4. Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2;Developmental Cell;2019-08

5. Knowing When to Let Go: Lysosomes Regulate Inter-Mitochondrial Tethering;Developmental Cell;2019-08

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