Results 91 to 100 of about 805 (150)

Histopathological analysis of gamma sarcoglycanopathy in Moroccan patients: A case series. [PDF]

Int J Surg Case Rep
Ouazzani HEL, Zouaidia F, Cherradi N, Karkouri M.   +3 more
europepmc   +1 more source

LGMD. Identification, description and classification. [PDF]

Acta Myol, 2020
Angelini C.
europepmc   +1 more source

LGMD R18 Mimicking Wilson Disease: 6-Year Longitudinal Muscle MRI Evolution and Clinical Insights into <i>TRAPPC11</i> Mutation. [PDF]

Diagnostics (Basel)
Chou YT, Chou HP, Chen YW.
europepmc   +1 more source

Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports. [PDF]

World J Clin Pediatr
Pongsakornkullachart P, Chanvanichtrakool M, Dhachpramuk D, Pho-Iam T, Yongwattana N, Kulsirichawaroj P, Tanboon J, Sanmaneechai O.   +7 more
europepmc   +1 more source

Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy. [PDF]

Cureus
Alyami NH, Musallam SH, Al Greshah H, Alabatahee N, Alyami T, Al Abdali A.   +5 more
europepmc   +1 more source

Treatabolome for finely targeting muscle pathology in LGMD. [PDF]

Acta Myol
Angelini C.
europepmc   +1 more source

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma. [PDF]

Genes (Basel)
Taneva A, Gresham D, Guergueltcheva V, Chamova T, Bojinova V, Gospodinova M, Katzarova M, Petkov R, Voit T, Aneva L, Asenov O, Georgieva B, Mihaylova V, Bichev S, Todorov T, Todorova A, Kalaydjieva L, Tournev I.   +17 more
europepmc   +1 more source

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice. [PDF]

Orphanet J Rare Dis
Severa G, Souvannanorath S, Tahiri I, Alimi C, Slioui A, Villa L, Salort-Campana E, Leturcq F, Streichenberger N, Krahn M, Solé G, Feasson L, Nadaj-Pakleza A, Tard C, Stojkovic T, Sacconi S, Malfatti E.   +16 more
europepmc   +1 more source

Unveiling a Rare Coexistence: Duchenne Muscular Dystrophy with Charcot-Marie-Tooth Disease Type 1A Presentation. [PDF]

Ann Indian Acad Neurol
Madduluri B, Jabeen SA, Barathidasan G, Shaik RS, Uppin MS.   +4 more
europepmc   +1 more source

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels. [PDF]

Mol Syndromol
Sarıkaya Uzan G, Yılmaz Uzman C, Çinleti T, Günay Ç, Ülgenalp A, Hız Kurul S, Yiş U.   +6 more
europepmc   +1 more source