A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy-Reference-Cited by-同舟云学术

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A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy

Published:2018-11-07 Issue:6 Volume:4 Page:e287
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Madigan Nicolas N.,Tracy Jennifer A.,Litchy William J.,Niu Zhiyv,Chen Chunhua,Ling Kun,Milone Margherita

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Reference7 articles.

1. The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

2. Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy

3. A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function

4. TFG-related neurologic disorders: new insights into relationships between endoplasmic reticulum and neurodegeneration;Yagi;J Neuropathol Exp Neurol,2016

5. Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

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1. Hereditary motor sensory neuropathy with proximal involvement (HMSN‐P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease‐like clinical picture;Muscle & Nerve;2024-03-27

2. Myopathic changes caused by protein aggregates in adult‐onset spinal muscular atrophy;Neuropathology;2023-03-02

3. Multisystem proteinopathies (MSPs) and MSP‐like disorders: Clinical‐pathological‐molecular spectrum;Annals of Clinical and Translational Neurology;2023-03

4. Guidelines for genetic testing of muscle and neuromuscular junction disorders;Muscle & Nerve;2021-06-16

5. TFG : At the crossroads of motor neuron disease and myopathy;Muscle & Nerve;2019-09-13

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