Giant axonal neuropathy ( GAN ) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in GAN gene

2021 ◽  
Author(s):  
Yufan Guo ◽  
Qunyan Su ◽  
Xueying Zhu ◽  
Jianda Wang ◽  
Yuting Lou ◽  
...  
Keyword(s):  
Axonal Neuropathy ◽  
Giant Axonal Neuropathy ◽  
Splicing Variant

Giant Axonal Neuropathy in Siblings

2008 ◽  
Vol 39 (01) ◽  
Author(s):  
A Naussed ◽  
I Heidrich ◽  
I Schreyer ◽  
HJ Mentzel ◽  
U Brandl
Keyword(s):  
Axonal Neuropathy ◽  
Giant Axonal Neuropathy

scholarly journals Explaining intermediate filament accumulation in giant axonal neuropathy

Rare Diseases ◽  
2013 ◽  
Vol 1 (1) ◽  
pp. e25378 ◽  
Author(s):  
Puneet Opal ◽  
Robert D. Goldman
Keyword(s):  
Intermediate Filament ◽  
Axonal Neuropathy ◽  
Giant Axonal Neuropathy

Generalized giant axonal neuropathy

1977 ◽  
Vol 40 (3) ◽  
pp. 213-218 ◽  
Author(s):  
J�rgen Peiffer ◽  
Wolfgang Schlote ◽  
Albert Bischoff ◽  
Eugen Boltshauser ◽  
G�nter M�ller
Keyword(s):  
Axonal Neuropathy ◽  
Giant Axonal Neuropathy

Giant axonal neuropathy: report on a case with focal fiber loss

1992 ◽  
Vol 83 (5) ◽  
pp. 543-546 ◽  
Author(s):  
M. Sabatelli ◽  
E. Bertini ◽  
S. Servidei ◽  
E. Fernandez ◽  
S. Magi ◽  
...  
Keyword(s):  
Axonal Neuropathy ◽  
Giant Axonal Neuropathy

Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): Report from India

2008 ◽  
Vol 51 (5) ◽  
pp. 426-435 ◽  
Author(s):  
A. Nalini ◽  
N. Gayathri ◽  
T.C. Yasha ◽  
S. Ravishankar ◽  
A. Urtizberea ◽  
...  
Keyword(s):  
Axonal Neuropathy ◽  
Giant Axonal Neuropathy

Giant axonal neuropathy with subclinical involvement of the central nervous system: Case report

1998 ◽  
Vol 158 (2) ◽  
pp. 232-235 ◽  
Author(s):  
Alessandro Malandrini ◽  
Maria Teresa Dotti ◽  
Carla Battisti ◽  
Marcello Villanova ◽  
Giuseppe Capocchi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Axonal Neuropathy ◽  
Giant Axonal Neuropathy ◽  
The Central Nervous System

Aggregation of a subpopulation of vimentin filaments in cultured human skin fibroblasts derived from patients with giant axonal neuropathy

1996 ◽  
Vol 33 (2) ◽  
pp. 115-129 ◽  
Author(s):  
Olivier Bousquet ◽  
Monique Basseville ◽  
Evelyne Vila-Porcile ◽  
Thierry Billette de Villemeur ◽  
Jean-Jacques Hauw ◽  
...  
Keyword(s):  
Human Skin ◽  
Axonal Neuropathy ◽  
Skin Fibroblasts ◽  
Human Skin Fibroblasts ◽  
Giant Axonal Neuropathy ◽  
Vimentin Filaments

Giant axonal neuropathy

2014 ◽  
pp. 142-145
Author(s):  
Robert Ouvrier ◽  
Manoj Menezes
Keyword(s):  
Axonal Neuropathy ◽  
Giant Axonal Neuropathy
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