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Charcot-Marie-Tooth disease

Revista Médica Clínica Las Condes, 2018
ABSTRACT: Hereditary neuropathies are the most common inherited neuromuscular diseases. The most prevalent group of these disorders is that of hereditary sensory-motor neuropathies, better known by the eponym of Charcot-Marie-Tooth disease (CMT). These neuropathies present with distal, symmetric and progressive involvement and are associated with point
Edmar Zanoteli, Edmar Zanoteli, Alulin Tácio Quadros Santos Monteiro Fonseca   +2 more
doaj   +8 more sources

The causes of Charcot-Marie-Tooth disease [PDF]

Cellular and Molecular Life Sciences (CMLS), 2018
Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In the last 12 years, 14 genes have been identified that cause different CMT subforms. The
Suter, U., Young, P.
core   +6 more sources

Charcot–Marie–Tooth disease [PDF]

European Journal of Human Genetics, 2009
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over two dozen genes have been identified in which mutations cause CMT. The disease illustrates a multitude of genetic principles, including
Kinga Szigeti, James R. Lupski
openaire   +4 more sources

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin, Zun‐Lin Zhou, Yuan‐Qing Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zu‐Cai Xu   +6 more
wiley   +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, Casasnovas Pons, Carlos, Albertí, María A., Jorge, Laura de, Povedano, Mònica, Montero, Jordi, Martínez Matos, Juan Antonio, Volpini Bertrán, Víctor   +7 more
openaire   +4 more sources

Treatment for Charcot-Marie-Tooth disease [PDF]

Cochrane Database of Systematic Reviews, 2006
Charcot-Marie-Tooth disease (CMT) comprises a large variety of different forms of motor and sensory neuropathies. The most frequent are demyelinating forms (CMT1) and axonal forms (CMT2). The molecular basis of several CMT forms has been clarified during the last 15 years.
Young, P., De Jonghe, Peter, Stögbauer, F., Butterfass-Bahloul, T.   +3 more
openaire   +3 more sources

Application of kinesitherapy within the process of rehabilitation of patients with Charcot-Marie-Tooth nerval amyotrophia [PDF]

, 2023
This study was approved by Institute Ethics Committee, National University Yuri Kondratyuk Poltava Polytechnic, Poltava, Ukraine (Ref: NUYKPP/ IEC/2022/123).
Hagner-Derengowska, Magdalena, Heta, Alla, Kindrat, Vadim, Kletsenko, Liudmyla, Levkov, Anatolij, Muszkieta, Radosław, Rybalko, Lina, Smoleńska, Olga, Vyshar, Yevheniia, Zukow, Walery, Żukow, Xawery   +10 more
core   +1 more source

The motor function measure to study limitation of activity in children and adults with Charcot-Marie-Tooth disease [PDF]

, 2014
ObjectiveTo study the applicability and responsiveness of the motor function measure (total score and sub-scores D1, D2 and D3) in patients with Charcot-Marie-Tooth disease.Patients and methodsTwo hundred and thirty-three patients aged 4–86 years were ...
Allard, L., Bérard, C., Hamroun, D., Jacquin-Courtois, S., Poirot, I., Pouget, M.C., Rippert, P., Rode, G., Vuillerot, C.   +8 more
core   +1 more source

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease [PDF]

, 2016
Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes.
Barsottini O. G. P., Caltagirone C., Casella A., Gaudiello F., Kawarai T., Lo Giudice T., Massa R., Mearini M., Montecchiani C., Orlacchio A., Pedace L., Pedroso J. L., St. George-Hyslop P. H. St., Terracciano C.   +13 more
core   +1 more source

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, Hanna, MG, Machado, PM, Morrow, JM, Reilly, MM, Sinclair, CD, Thornton, JS, Yousry, TA   +7 more
core   +1 more source