Results 21 to 30 of about 49,167 (262)
What's the Function of Connexin 32 in the Peripheral Nervous System? [PDF]
, 2018 Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating
Bortolozzi, Mario
core +1 more source
X-linked Charcot-Marie-Tooth Disease [PDF]
Journal of the Peripheral Nervous System, 2005 AbstractThe X‐linked form of Charcot‐Marie‐Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive muscle atrophy and weakness, areflexia, and variable sensory abnormalities; central nervous system manifestations occur, too.
Scherer, Steven S., Kleopa, Kleopas A.
openaire +2 more sources
MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study [PDF]
, 2015 BACKGROUND: A substantial impediment to progress in trials of new therapies in neuromuscular disorders is the absence of responsive outcome measures that correlate with patient functional deficits and are sensitive to early disease processes ...
Fischmann, A +7 more
core +1 more source
Diagnosis of Charcot‐Marie‐Tooth Disease [PDF]
BioMed Research International, 2009 Charcot‐Marie‐Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission.
Banchs, Isabel +7 more
openaire +3 more sources
Charcot-Marie-Tooth: From Molecules to Therapy
International Journal of Molecular Sciences, 2019 Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns,
J. Morena, Anirudh Gupta, J. Hoyle
semanticscholar +1 more source
Бюллетень сибирской медицины, 2011 To assess the life quality in patients with hereditary neuropathy Charcot—Marie—Tooth in the Krasnoyarsk Region. Life quality was assessed in 28 patients with confirmed diagnosis of hereditary neuropathy Charcot—Marie—Tooth, using the «EuroQuality of ...
N. A. Shnayder +2 more
doaj +1 more source
Emerging functions of mammalian mitochondrial fusion and fission [PDF]
, 2005 Mitochondria provide a myriad of services to the cell, including energy production, calcium buffering and regulation of apoptosis. How these diverse functions are coordinated among the hundreds of mitochondria in a given cell is largely unknown, but is ...
Chan, David C., Chen, Hsiuchen
core +1 more source
Pathological classification of equine recurrent laryngeal neuropathy [PDF]
, 2018 Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle ...
Draper, A C E, Piercy, R J
core +2 more sources
Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]
, 2009 Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander +42 more
core +3 more sources
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (
BMC Medical Genetics, 2006 Background Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.
Haas Gerhard +6 more
doaj +1 more source