Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 224,361,084 papers from all fields of science
Search
Sign In
Create Free Account
Charcot-Marie-Tooth disease, X-linked, 1
Known as:
HMSN, X-LINKED
, CMTX1
, HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED
Expand
Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
13 relations
Broca Aphasia
Contracture of tendo achilles
Deglutition Disorders
Distal amyotrophy
Expand
Broader (1)
Charcot-Marie-Tooth Disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Ciliary Muscle Thickness in Anisometropia
M. K. Kuchem
,
L. Sinnott
,
C. Kao
,
Melissa D. Bailey
Optometry and Vision Science
2013
Corpus ID: 16467085
Purpose The purpose of this study was to investigate the relationships between ciliary muscle thickness (CMT), refractive error…
Expand
2010
2010
Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy
Hyun Sook Kim
,
K. Chung
,
+5 authors
Byung-Ok Choi
Neurogenetics
2010
Corpus ID: 21572839
Both the myotonic dystrophy type 1 (DM1) and the X-linked dominant Charcot–Marie–Tooth disease (CMTX1) are well-established…
Expand
Highly Cited
2009
Highly Cited
2009
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
J. Cassereau
,
A. Chevrollier
,
+11 authors
P. Reynier
Neurogenetics
2009
Corpus ID: 31550330
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have…
Expand
2004
2004
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease
Hung-Li Wang
,
Wen‐Teng Chang
,
T. Yeh
,
Tony Wu
,
Mei‐Shin Chen
,
Ching-Yi Wu
Neurobiology of Disease
2004
Corpus ID: 37495866
Highly Cited
2000
Highly Cited
2000
Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins.
J. Vanslyke
,
S. Deschênes
,
L. Musil
Molecular Biology of the Cell
2000
Corpus ID: 7882446
More than 130 different mutations in the gap junction integral plasma membrane protein connexin32 (Cx32) have been linked to the…
Expand
Review
1999
Review
1999
Inherited Peripheral Neuropathy
M. Keller
,
P. Chance
Seminars in neurology
1999
Corpus ID: 31704517
MPZ PMP22
Highly Cited
1998
Highly Cited
1998
Connexin32 Mutations Associated with X-Linked Charcot–Marie–Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties
C. Ressot
,
D. Gomès
,
A. Dautigny
,
D. Pham‐Dinh
,
R. Bruzzone
Journal of Neuroscience
1998
Corpus ID: 15274216
The X-linked form of Charcot–Marie–Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32 (Cx32…
Expand
Highly Cited
1998
Highly Cited
1998
X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln)
J. Senderek
,
Carsten Bergmann
,
S. Quasthoff
,
V. Ramaekers
,
J. Schröder
Acta Neuropathologica
1998
Corpus ID: 24060338
Abstract X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of…
Expand
1995
1995
New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy
V. Ionasescu
,
C. Searby
,
R. Ionasescu
,
W. Meschino
Neuromuscular Disorders
1995
Corpus ID: 38740284
Review
1994
Review
1994
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
P. Chance
,
K. Fischbeck
Human Molecular Genetics
1994
Corpus ID: 22297832
Collectively, the inherited disorders of peripheral nerves represent a common group of neurologic diseases. Charcot-Marie-Tooth…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE