Results 211 to 220 of about 49,167 (262)
Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2
Developmental Cell, 2019 Properly regulated mitochondrial networks are essential for cellular function and implicated in multiple diseases. Mitochondria undergo fission and fusion events, but the dynamics and regulation of a third event of inter-mitochondrial contact formation ...
Yvette C Wong +2 more
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JAMA, 1964
Peroneal muscular atrophy (Charcot-Marie-Tooth disease) in nine children often demonstrated characteristic, if not diagnostic, clinical features. A positive family history was highly suggestive. Biopsy specimens from two patients were of no value. Electromyelographic studies were not characteristic, but motor nerve conduction velocity studies done on ...
C W, DAWSON, J B, ROBERTS
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Peroneal muscular atrophy (Charcot-Marie-Tooth disease) in nine children often demonstrated characteristic, if not diagnostic, clinical features. A positive family history was highly suggestive. Biopsy specimens from two patients were of no value. Electromyelographic studies were not characteristic, but motor nerve conduction velocity studies done on ...
C W, DAWSON, J B, ROBERTS
openaire +2 more sources
European Journal of Neurology, 2021
The purpose was to provide an overview of genotype and phenotype distribution in a cohort of patients with Charcot–Marie–Tooth disease (CMT) and related disorders from central south China.
Yongzhi Xie +21 more
semanticscholar +1 more source
The purpose was to provide an overview of genotype and phenotype distribution in a cohort of patients with Charcot–Marie–Tooth disease (CMT) and related disorders from central south China.
Yongzhi Xie +21 more
semanticscholar +1 more source
Archives of Neurology, 1963
Charcot-Marie-Tooth disease (CMTD), or peroneal muscular atrophy (PMA), is an uncommon inherited affection of peripheral nerve and probably root, spinal cord, and muscle of young people. Many aspects of the pathology, etiology, and genetics are unresolved and demand a review of previous findings as well as new approaches in future investigations.
Peter J. Dyck +2 more
+4 more sources
Charcot-Marie-Tooth disease (CMTD), or peroneal muscular atrophy (PMA), is an uncommon inherited affection of peripheral nerve and probably root, spinal cord, and muscle of young people. Many aspects of the pathology, etiology, and genetics are unresolved and demand a review of previous findings as well as new approaches in future investigations.
Peter J. Dyck +2 more
+4 more sources
2013
Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability
Thomas, Florian P. +3 more
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Charcot-Marie-Tooth (CMT) disease (also called hereditary motor and sensory neuropathy; HMSN) is a common disorder of children and adults, with autosomal-dominant, autosomal-recessive, and X-linked modes of inheritance. This chapter discusses the common CMT subtypes in detail, including CMT1A, CMTX, CMT1B, CMT2, and hereditary neuropathy with liability
Thomas, Florian P. +3 more
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Pediatric Charcot-Marie-Tooth Disease
Pediatric Clinics of North America, 2015Heritable diseases of the peripheral nerves (Charcot-Marie-Tooth disease [CMT]) affect the motor units and sensory nerves, and they are among the most prevalent genetic conditions in the pediatric patient population. The typical clinical presentation includes distal muscle weakness and atrophy, but the severity and progression are largely variable ...
Agnes, Jani-Acsadi +3 more
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Axonal Charcot–Marie–Tooth disease
Current Opinion in Neurology, 2011The aim is to specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for these disorders.More than 10 genes that cause axonal CMT have been identified over the past decade. Many of these genes express proteins that are ubiquitously expressed.
Michael E, Shy, Agnes, Patzkó
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Archives of Neurology, 2001
I n 1886, Jean-Martin Charcot and Pierre Marie 1,2 and Henry Tooth independently described the hereditary motor and sensory neuropathy that now bears their names. Their precise clinical description provided the foundation on which later physiological and genetic understanding of hereditary neuropathies is based.
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I n 1886, Jean-Martin Charcot and Pierre Marie 1,2 and Henry Tooth independently described the hereditary motor and sensory neuropathy that now bears their names. Their precise clinical description provided the foundation on which later physiological and genetic understanding of hereditary neuropathies is based.
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A Consensus Statement on the Surgical Treatment of Charcot-Marie-Tooth Disease
Foot & ankle international, 2020Background: Charcot-Marie-Tooth (CMT) disease is a hereditary motor-sensory neuropathy that is often associated with a cavovarus foot deformity. Limited evidence exists for the orthopedic management of these patients.
G. Pfeffer +17 more
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Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
Continuum, 2020PURPOSE OF REVIEW This article provides an overview of Charcot-Marie-Tooth disease (CMT) and other inherited neuropathies. These disorders encompass a broad spectrum with variable motor, sensory, autonomic, and other organ system involvement ...
C. Klein
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