Results 161 to 170 of about 260,514 (183)

Phenotype-specific muscle proteomic profiling in titinopathies. [PDF]

Acta Neuropathol Commun
Perrin A, Casenave-Camgaston MR, Rabillard B, Raynaud F, Urbach S, Seveno M, Navarro AM, Tendero-Baziou A, Matecki S, Cancès C, Durigneux J, Biancalana V, Petit F, Tard C, Molin A, Godin M, Latypova X, Rendu J, Jeanne M, Juntas Morales R, Salort-Campana E, Verschueren A, Krahn M, Gorokhova S, Attarian S, Solé G, Esselin F, Martin-Négrier ML, Métay C, Jorgensen C, Bergougnoux A, Koenig M, Cossée M.   +32 more
europepmc   +1 more source

Distal Myopathy and Kyphoscoliosis Associated with a Kyphoscoliosis Peptidase Gene Mutation: A Rare Case. [PDF]

Ann Indian Acad Neurol
Yeşildaş PY, Özenç B.
europepmc   +1 more source

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy. [PDF]

Hum Mutat
de Feraudy Y, Maino A, Boedec M, Lornage X, Romero NB, Monges S, Lubieniecki F, Foncuberta ME, Tard C, Maurage CA, Csanyi M, Marcorelles P, Stojkovic T, Feasson L, Fradin M, Gousse G, Laugel V, Masingue M, Nadaj-Pakleza A, Bevilacqua JA, Neb Study Group, Rendu J, Bohm J, Biancalana V, Laporte J.   +24 more
europepmc   +1 more source

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. [PDF]

Neuropathol Appl Neurobiol
Caramizaru A, Onnée M, Nikitin S, Dobrescu A, Severa G, Murtazina A, Urtizberea A, Lefaucheur JP, Carlier RY, Metay C, Malfatti E.   +10 more
europepmc   +1 more source

Approach to the diagnosis of congenital myopathies [PDF]

Neuromuscular Disorders, 2014
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is ...
Nigel G Laing, Alan H. Beggs, Mariz Vainzof   +2 more
exaly   +2 more sources

Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature

Neuromuscular Disorders, 2014
Congenital myopathies are a clinically and genetically heterogeneous group of disorders characterized by early onset hypotonia, weakness and characteristic, but not pathognomonic, structural abnormalities in muscle fibres.
Robert McWilliam, Pedro M Rodríguez Cruz, David Beeson   +2 more
exaly   +2 more sources

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction [PDF]

Nature Reviews Neurology, 2018
The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly progressive course. Pronounced weakness in axial and proximal muscle groups
Rahul Phadke, Susan Treves, Anna Sarkozy
exaly   +3 more sources

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Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies

Journal of Clinical Medicine, 2023
Cristina Dominguez-Gonzalez, Ana Arteche-López, Laura Bermejo-Guerrero   +2 more
exaly  

Current and future therapeutic approaches to the congenital myopathies

Seminars in Cell and Developmental Biology, 2017
Susan Treves, Julien Ochala, Heinz Jungbluth   +2 more
exaly