Results 111 to 120 of about 7,593 (207)

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness. [PDF]

Neurol Genet
James MK, Iammarino MA, Reash NF, Steiner CL, Knight AB, Smith MA, Moat D, Michell-Sodhi J, Wong KSW, Grover E, Robinson EJ, Mayhew AG, Eagle M, Elseed M, Guglieri M, Straub V, Marini-Bettolo C, Muni-Lofra R, Diaz-Manera J, Lowes LP, Alfano LN.   +20 more
europepmc   +1 more source

Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. [PDF]

, 2017
Ackroyd, Ackroyd, Assadi, Barone, Beltran-Valero de Bernabe, Bielle, Booler, Borrell, Bouchet, Brockington, Buysse, Carss, Copp, Devisme, Dobyns, Ervasti, Gee, Halfter, Hartfuss, Hirotsune, Hong, Hu, Hu, Kranz, Lefeber, Lefeber, Longman, Manzini, Meyer, Montagnani, Moore, Moore, Myshrall, Radner, Reiner, Rice, Roscioli, Satz, Shaheen, Siegenthaler, Stevens, Sugita, Takiguchi-Hayashi, Toda, van Reeuwijk, Vuillaumier-Barrot, Willer, Yang, Yeo, Yoshida, Yoshida-Moriguchi, Yurchenco   +51 more
core   +2 more sources

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

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

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

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +1 more source

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy. [PDF]

Eur J Pediatr
Aires Martins I, Baptista de Lima J, Coelho MP, Bandeira A, Martins E, Correia J.   +5 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophy [PDF]

, 2020
openaire   +3 more sources

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +1 more source