Results 91 to 100 of about 3,537,976 (165)

Congenital Clubfoot as an Early Manifestation of Duchenne Muscular Dystrophy? [PDF]

Muscles
Kenis V, Shpulev P, Melnik E, Sosnina I, Snegova E.   +4 more
europepmc   +1 more source

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

Failure to Fuse Shut Eyelids, a Novel Unique Sign in Affected Fetus with Homozygous PPP1R13L Pathogenic Variant-A Case Report and Review of the Literature. [PDF]

Int J Mol Sci
Shalata Z, Mintz H, Haddad S, Osman K, Mahroum M, Hadid Y, Shalata A.   +6 more
europepmc   +1 more source

Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy. [PDF]

Muscles
Abolibdeh B, Williams CH.
europepmc   +1 more source

Congenital Myopathy with Type 2 Fiber Deficiency and without Specific Structural Abnormalities

NO TO HATATSU, 1980
Une, Yukiharu, Haraguchi, Hiroyuki
openaire   +1 more source

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes. [PDF]

Front Med (Lausanne)
Rinella S, Anastasio G, Sapuppo A, Bianco ML, Leonardi R, Pavone P, Ruggieri M, Polizzi A.   +7 more
europepmc   +1 more source

The inflammatory myopathies

, 2013
The inflammatory myopathies are a group of rare conditions that usually present in general practice as a patient with muscle weakness and/or an elevated serum creatine kinase (CK) level.
De Jager, JP
core  

Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8. [PDF]

Mol Genet Genomic Med
Zhuang J, Hong M, Huang Q, Jiang Y, Wang J.   +4 more
europepmc   +1 more source

Treatment of idiopathic Inflammatory myopathies

, 2014
Idiopathic inflammatory myopathies are a group of rare, disorders with the primary features of muscle weakness and inflammatory lesions identified in skeletal muscle specimens.
Bercovici, Einav
core  

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