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

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

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

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

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

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

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

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

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

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

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

Chronic ophthalmoparesis in limb girdle muscular dystrophy 1CFILOSTO, M; TONIN, P; VATTEMI, G et al.Journal of neurology, neurosurgery and psychiatry. 2009, Vol 80, Num 4, pp 448-449, issn 0022-3050, 2 p.Article

Diagnosis and management of the limb girdle muscular dystrophiesBUSHBY, Kate.Practical neurology (Print). 2009, Vol 9, Num 6, pp 314-323, issn 1474-7758, 10 p.Article

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 21 in 11 French patientsBOURTEEL, H; VERMERSCH, P; CUISSET, J.-M et al.Journal of neurology, neurosurgery and psychiatry. 2009, Vol 80, Num 12, pp 1405-1408, issn 0022-3050, 4 p.Article

Limb-girdle muscular dystrophy in the Netherlands : Gene defect identified in half the familiesVAN DER KOOI, A. J; FRANKHUIZEN, W. S; BAKKER, E et al.Neurology. 2007, Vol 68, Num 24, pp 2125-2128, issn 0028-3878, 4 p.Article

A novel mutation in two families with limb-girdle muscular dystrophy type 2CDUNCAN, D. R; KANG, P. B; RABBAT, J. C et al.Neurology. 2006, Vol 67, Num 1, pp 167-169, issn 0028-3878, 3 p.Article

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophyGODFREY, Caroline; ESCOLAR, Diana; RUTHERFORD, Mary et al.Annals of neurology. 2006, Vol 60, Num 5, pp 603-610, issn 0364-5134, 8 p.Article

Sustained Alpha-Sarcoglycan Gene Expression after Gene Transfer in Limb- Girdle Muscular Dystrophy, Type 2DMENDELL, Jerry R; RODINO-KLAPAC, Louise R; CAMPBELL, Katherine J et al.Annals of neurology. 2010, Vol 68, Num 5, pp 629-638, issn 0364-5134, 10 p.Article

Mild POMGnTI Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy VariantCLEMENT, Emma M; GODFREY, Caroline; MEIN, Rachael et al.Archives of neurology (Chicago). 2008, Vol 65, Num 1, pp 137-141, issn 0003-9942, 5 p.Article

Limb-girdle muscular dystrophy due to emerin gene mutationsURA, Shigehisa; HAYASHI, Yukiko K; NONAKA, Ikuya et al.Archives of neurology (Chicago). 2007, Vol 64, Num 7, pp 1038-1041, issn 0003-9942, 4 p.Article

The congenital and limb-girdle muscular dystrophies: Sharpening the focus, blurring the boundariesKIRSCHNER, Janbernd; BÖNNENANN, Carsten G.Archives of neurology (Chicago). 2004, Vol 61, Num 2, pp 189-199, issn 0003-9942, 11 p.Article

LIMB-GIRDLE MUSCULAR DYSTROPHY WITH α-DYSTROGLYCAN DEFICIENCY AND MUTATIONS IN THE ISPD GENETASCA, G; MORO, F; AIELLO, C et al.Neurology. 2013, Vol 80, Num 10, pp 963-965, issn 0028-3878, 3 p.Article