Results 101 to 110 of about 29,182 (218)

Contralateral force irradiation for the activation of tibialis anterior muscle in carriers of Charcot-Marie-Tooth disease: effect of PNF intervention program [PDF]

open access: yes, 2009
OBJETIVO: Avaliar a resposta do músculo tibial anterior (TA) após um protocolo de cinco semanas com irradiação contralateral de força através de diagonais de facilitação neuromuscular proprioceptiva (FNP) em pacientes com polineuropatia desmielinizante ...
ARAUJO, João E.   +5 more
core   +1 more source

CHARCOT-MARIE-TOOTH DISEASE

open access: yesZdravniški Vestnik, 2003
Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic ...
Lea Leonardis   +2 more
doaj  

The experience of falls and balance impairment for people with Charcot-Marie-Tooth disease [PDF]

open access: yes, 2017
People with Charcot Marie Tooth disease (CMT) have impairments of balance and may fall more frequently than those without the condition. This qualitative study aimed to explore the experiences of falling and poor balance through focus group interviews.
Marsden, Jonathan F   +3 more
core   +2 more sources

Hand Involvement in Charcot-Marie-Tooth Disease 1A

open access: yesPediatric Neurology Briefs, 2008
Hand strength, function and disease-related symptoms were determined in 84 children, aged 2-16 years, with Charcot-Marie-Tooth disease type 1A (CMT1A) at University of Sydney, Children’s Hospital at Westmead, and Royal Children’s Hospital, Parkville ...
J Gordon Millichap
doaj   +1 more source

The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease [PDF]

open access: yes, 2017
Mutations in the mitochondrial fission factor GDAP1 are associated with severe peripheral neuropathies, but why the CNS remains unaffected is unclear. Using a Gdap1−/− mouse, Niemann et al.
Angst, Brigitte   +15 more
core  

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis [PDF]

open access: yes, 2014
BACKGROUND: The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease.
Bacon, C   +26 more
core   +1 more source

Enfermedad de Charcot-Marie-Tooth en Pediatría. Eficacia del tratamiento físico [PDF]

open access: yes, 2019
Fundamento: La enfermedad de Charcot-Marie-Tooth o neuropatía hereditaria sensitivo-motora, es la neuropatía hereditaria primaria más frecuente, con una prevalencia de 1 por cada 2500 habitantes. La determinan mutaciones específicas de uno o varios genes
Olasagasti Burgaña, Maialen
core  

Charcot–Marie–Tooth disease: Genetics, epidemiology and complications [PDF]

open access: yes, 2017
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms.
Ahmadinejad, Fereshteh.   +3 more
core  

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease [PDF]

open access: yes, 2018
We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. Some proteins implicated in demyelinating CMT,
Berger, Philipp   +2 more
core  

Първи случай на рядка форма на автозомно-доминантна аксонна наследствена моторна и сетивна полиневропатия, обусловена от мутация c.754C>T, p.Arg252Trp в MORC2 гена с късно начало (НМСН тип 2Z).

open access: yesБългарска неврология
Болестта на Charcot-Marie-Tooth (CMT), известна също като наследствена моторна и сетивна невропатия (НМСН) е група от наследствени моторни и сензорни периферни невропатии и най-често срещаното наследствено невромускулно заболяване.
Ognyan Asenov   +3 more
doaj   +1 more source

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