Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations
Author:
Funder
Iran National Science Foundation
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference24 articles.
1. HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry;Alavi;Neurobiol. Aging,2015
2. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure;Beetz;Proc. Natl. Acad. Sci. U. S. A.,2013
3. Hereditary motor and sensory neuropathy with proximal predominance (HMSN-P);Campellone;J. Clin. Neuromuscul. Dis.,2013
4. Brainstem and spinal cord motor neuron involvement with optineurin inclusions in proximal-dominant hereditary motor and sensory neuropathy;Fujita;J. Neurol. Neurosurg. Psychiatry,2011
5. The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain;Greco;Mol. Cell. Biol.,1995
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1. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature;Journal of Human Genetics;2021-03-25
2. A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot‐Marie‐Tooth disease 2;Brain and Behavior;2020-07-14
3. Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene;Neuromuscular Disorders;2020-03
4. Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation;American Journal of Medical Genetics Part A;2019-05-20
5. Sural nerve pathology inTFG‐associated motor neuron disease with sensory neuropathy;Neuropathology;2019-04-08
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