Results 121 to 130 of about 5,189 (209)

Limb girdle muscular dystrophies

Česká a slovenská neurologie a neurochirurgie, 2022
Lívie Mensová, Daniel Baumgartner, Veronika Potočková, Radim Mazanec   +3 more
openaire   +1 more source

Clinical Care and Rehabilitation in Neuromuscular Disorders-Why It Highly Matters. [PDF]

J Clin Med
Gdynia HJ.
europepmc   +1 more source

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield. [PDF]

Int J Mol Sci
Ostojić S, Kovačević G, Ilić N, Marić N, Anđelković M, Lalić T, Mišković M, Ljubičić KK, Marjanović I, Paripović A, Baša M, Vukomanović V, Krstić J, Adamović M, Sovtić A, Sarajlija A.   +15 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

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9. [PDF]

Neurol Genet
Vissing J, Mozaffar T, Johnson NE, Mathews KD, Wicklund MP, Weihl C, Leung DG, Statland JM, Kang PB, Zingariello CD, Lowes LP, Desai U, Bates K, Alfano LN, Xie H, St Romain J, Blankenbiller T, McLendon G, Rajasingham T, Heitzer M, Wu-Zhang AX, Tripp K, Rodriguez HM, Sproule D, as the GRASP-LGMD Consortium.   +24 more
europepmc   +1 more source

Identification of prognostic biomarkers in a large cohort of patients with LGMD R2. [PDF]

J Neurol
Bolano-Diaz CF, Verdu-Diaz J, Hao D, James MK, Rufibach L, Blamire A, Reyngoudt H, Carlier PG, Gordish-Dressman H, Hilsden H, Spuler S, Day J, Jones KJ, Bharucha-Goebel D, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Mendell J, Jain COS Consortium, Straub V, Diaz-Manera J.   +24 more
europepmc   +1 more source

Musculoskeletal Ultrasound: From Diagnosis to Rehabilitation. [PDF]

Balkan Med J
Palamar D.
europepmc   +1 more source

X-linked Emery-Dreifuss muscular dystrophy caused by a novel <i>FHL1</i> mutation: A case report. [PDF]

J Int Med Res
Zhang H, Tang S, Zhang W, Wang W, Tang W.   +4 more
europepmc   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies. [PDF]

Muscle Nerve
Wilks AW, Chahin N.
europepmc   +1 more source

Limb-girdle muscular dystrophy [PDF]

, 2020
openaire   +1 more source