Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family

2018 ◽  
Vol 66 (4) ◽  
pp. 1162 ◽  
Author(s):  
MiguelA Alcántara-Ortigoza ◽  
Rocío Rius ◽  
AriadnaGonzález-del Angel ◽  
JoséA Velázquez-Aragón ◽  
LuzM Cordero-Guzmán ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Sensory Neuropathy ◽  
Pathogenic Variant ◽  
French Canadian ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

2003 ◽  
Vol 54 (1) ◽  
pp. 9-18 ◽  
Author(s):  
Nicolas Dupré ◽  
Heidi C. Howard ◽  
Jean Mathieu ◽  
George Karpati ◽  
Michel Vanasse ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Sensory Neuropathy ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

scholarly journals Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

2011 ◽  
Vol 286 (32) ◽  
pp. 28456-28465 ◽  
Author(s):  
Adèle Salin-Cantegrel ◽  
Jean-Baptiste Rivière ◽  
Masoud Shekarabi ◽  
Sarah Rasheed ◽  
Sandra DaCal ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Potassium Chloride ◽  
Sensory Neuropathy ◽  
Pathogenic Mechanism ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

Hereditary motor and sensory neuropathy type V or complicated form of spastic paraplegia?

2006 ◽  
Vol 37 (01) ◽  
Author(s):  
L Schöls ◽  
R Schüle ◽  
B Mauko ◽  
M Auer-Grumbach ◽  
L Schöls
Keyword(s):  
Sensory Neuropathy ◽  
Spastic Paraplegia ◽  
Hereditary Motor ◽  
Complicated Form ◽  
Type V ◽  
Motor And Sensory Neuropathy

Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers

1992 ◽  
Vol 110 (1-2) ◽  
pp. 121-130 ◽  
Author(s):  
G.L. Mancardi ◽  
M. Di Rocco ◽  
A. Schenone ◽  
E. Veneselli ◽  
M. Doria ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Sensory Neuropathy ◽  
Hereditary Motor ◽  
Myelinated Fibers ◽  
Motor And Sensory Neuropathy

scholarly journals Structural and Functional Measures of Inner Retinal Integrity Following Visual Acuity Improvement in a Patient with Hereditary Motor and Sensory Neuropathy Type VI

2011 ◽  
Vol 32 (3) ◽  
pp. 188-192 ◽  
Author(s):  
Sowjanya Gowrisankaran ◽  
Anastasios Anastasakis ◽  
Gerald A. Fishman ◽  
Kenneth R. Alexander
Keyword(s):  
Visual Acuity ◽  
Sensory Neuropathy ◽  
Hereditary Motor ◽  
Functional Measures ◽  
Motor And Sensory Neuropathy

Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype

1994 ◽  
Vol 17 (1) ◽  
pp. 85-90 ◽  
Author(s):  
Jessica E. Hoogendijk ◽  
Marianne de Visser ◽  
Pieter A. Bolhuis ◽  
Augustinus A. M. Hart ◽  
Bram W. Ongerboer de Visser
Keyword(s):  
Sensory Neuropathy ◽  
Type I ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy
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