Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): Report from India
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference27 articles.
1. Giant axonal neuropathy;Berg;Pediatrics,1972
2. Giant axonal neuropathy: a unique case with segmental neurofilamentous masses;Asbury;Acta Neuropathol. (Berl.),1972
3. Giant axonal neuropathy. A review;Ouvrier;Brain Dev.,1989
4. Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair;Treiber-Held;Neuropediatrics,1994
5. Giant axonal neuropathy: a clinical entity affecting the central nervous system as the peripheral nervous system;Igisu;Neurology,1975
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1. Genetic Approaches for the Treatment of Giant Axonal Neuropathy;Journal of Personalized Medicine;2022-12-30
2. Calpain-mediated proteolysis of vimentin filaments is augmented in giant axonal neuropathy fibroblasts exposed to hypotonic stress;Frontiers in Cell and Developmental Biology;2022-11-01
3. Calpain-mediated proteolysis of vimentin filaments is augmented in Giant Axonal Neuropathy (GAN) fibroblasts exposed to hypotonic stress;2022-08-01
4. Hereditary neuropathies: Genetics and utility of nerve biopsy;INDIAN J PATHOL MICR;2022
5. Giant axonal neuropathy ( GAN ) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in GAN gene;American Journal of Medical Genetics Part A;2021-12-10
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