Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 geneMELIA, Maria J; KUBOTA, Akatsuki; GARCIA-ARUMI, Elena et al.Brain. 2013, Vol 136, pp 1508-1517, issn 0006-8950, 10 p., 5Article

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy : LGMD2H and LGMD21FROSK, Patrick; DEL BIGIO, Marc R; WROGEMANN, Klaus et al.European journal of human genetics. 2005, Vol 13, Num 8, pp 978-982, issn 1018-4813, 5 p.Article

A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG proteinGOUVEIA, Telma L. F; KOSSUGUE, Patricia M; PAIM, Julia F et al.Journal of molecular medicine (Berlin. Print). 2007, Vol 85, Num 4, pp 415-420, issn 0946-2716, 6 p.Article

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophySARPARANTA, Jaakko; HARALD JONSON, Per; RAHEEM, Olayinka et al.Nature genetics. 2012, Vol 44, Num 4, pp 450-455, issn 1061-4036, 6 p.Article

Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophyFIGUEROA, Juan J; CHAPIN, John E.Journal of neurology. 2010, Vol 257, Num 3, pp 444-446, issn 0340-5354, 3 p.Article

How to tackle the diagnosis of limb-girdle muscular dystrophy 2AFANIN, Marina; CHIARA NASCIMBENI, Anna; TASCA, Elisabetta et al.European journal of human genetics. 2009, Vol 17, Num 5, pp 598-603, issn 1018-4813, 6 p.Article

Sarcolemmal Neuronal Nitric Oxide Synthase Defect in Limb-Girdle Muscular Dystrophy : An Adverse Modulating Factor in the Disease Course?FANIN, Marina; TASCA, Elisabetta; CHIARA NASCIMBENI, Anna et al.Journal of neuropathology and experimental neurology. 2009, Vol 68, Num 4, pp 383-390, issn 0022-3069, 8 p.Article

Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCRARNING, Larissa; JAGIELLO, Peter; SCHARA, Ulrike et al.Journal of neurology. 2004, Vol 251, Num 1, pp 72-78, issn 0340-5354, 7 p.Article

Cardiac involvement in limb-girdle muscular dystrophy 21 : Conventional cardiac diagnostic and cardiovascular magnetic resonanceGAUL, C; DESCHAUER, M; TEMPELMANN, C et al.Journal of neurology. 2006, Vol 253, Num 10, pp 1317-1322, issn 0340-5354, 6 p.Article

Mutation impact on dysferlin inferred from database analysis and computer-based structural predictionsTHERRIEN, Christian; DODIG, Dubravka; KARPATI, George et al.Journal of the neurological sciences. 2006, Vol 250, Num 1-2, pp 71-78, issn 0022-510X, 8 p.Article

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDSFISCHER, Dirk; WALTER, Maggie C; URBACH, Horst et al.Journal of neurology. 2005, Vol 252, Num 5, pp 538-547, issn 0340-5354, 10 p.Article

Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuolesNAKAMURA, Akinori; YOSHIDA, Kunihiro; IKEDA, Shu-Ichi et al.Clinical neurology and neurosurgery. 2004, Vol 106, Num 2, pp 122-128, issn 0303-8467, 7 p.Article

Episodes of exercise-induced dark urine and myalgia in LGMD 21LINDBERG, C; SIXT, C; OLDFORS, A et al.Acta neurologica scandinavica. 2012, Vol 125, Num 4, pp 285-287, issn 0001-6314, 3 p.Article

Defective Myotilin Homodimerization Caused by a Novel Mutation in MYOT Exon 9 in the First Japanese Limb Girdle Muscular Dystrophy 1A PatientSHALABY, Sherine; MITSUHASHI, Hiroaki; MATSUDA, Chie et al.Journal of neuropathology and experimental neurology. 2009, Vol 68, Num 6, pp 701-707, issn 0022-3069, 7 p.Article

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 20RADUCU, Madalina; BAETS, Jonathan; FANO, Oihane et al.European journal of human genetics. 2012, Vol 20, Num 9, pp 945-952, issn 1018-4813, 8 p.Article

Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppressionBINGJING WANG; ZHAOHUI YANG; BRISSON, Becky K et al.Journal of applied physiology (1985). 2010, Vol 109, Num 3, pp 901-905, issn 8750-7587, 5 p.Article

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging studyKESPER, K; KORNBLUM, C; REIMANN, J et al.Acta neurologica scandinavica. 2009, Vol 120, Num 2, pp 111-118, issn 0001-6314, 8 p.Article

Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patientsDE LA TORRE, Carolina; ILLA, Isabel; FAULKNER, Georgine et al.Proteomics. Clinical applications (Print). 2009, Vol 3, Num 4, pp 486-497, issn 1862-8346, 12 p.Article

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to IIpI3-pI2JARRY, J; RIOUX, M. F; BOLDUC, V et al.Brain. 2007, Vol 130, pp 368-380, issn 0006-8950, 13 p., 2Article

Identification of a lamin A/C gene mutation in a Taiwanese family with limb girdle muscular dystrophy and cardiomyopathyCHANG, Shu-Hsuan; TSAI, Chia-Ti; LAI, Ling-Ping et al.International journal of cardiology. 2010, Vol 145, Num 3, pp 598-599, issn 0167-5273, 2 p.Article

Distal anterior compartment myopathy with early ankle contracturesSAITO, Hiroshi; SUZUKI, Naoki; ISHIGURO, Hideaki et al.Muscle & nerve. 2007, Vol 36, Num 4, pp 525-527, issn 0148-639X, 3 p.Article

Dysferlin interacts with affixin (β-parvin) at the sarcolemmaMATSUDA, Chie; KAMEYAMA, Kimihiko; TAGAWA, Kazuhiko et al.Journal of neuropathology and experimental neurology. 2005, Vol 64, Num 4, pp 334-340, issn 0022-3069, 7 p.Article

BALANCE CONTROL IN PATIENTS WITH DISTAL VERSUS PROXIMAL MUSCLE WEAKNESSHORLINGS, C. G. C; KÜNG, U. M; VAN ENGELEN, B. G. M et al.Neuroscience. 2009, Vol 164, Num 4, pp 1876-1886, issn 0306-4522, 11 p.Article

Childhood Onset of Limb-Girdle Muscular DystrophyROSALES, Xiomara Q; TSAO, Chang-Yong.Pediatric neurology. 2012, Vol 46, Num 1, pp 13-23, issn 0887-8994, 11 p.Article

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophySANDELL, Satu; HUOVINEN, Sanna; SARPARANTA, Jaakko et al.Journal of neurology, neurosurgery and psychiatry. 2010, Vol 81, Num 8, pp 834-839, issn 0022-3050, 6 p.Article