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

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 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

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

Etiology of Limb Girdle Muscular Dystrophy 1D/1E Determined by Laser Capture Microdissection ProteomicsGREENBERG, Steven A; SALAJEGHEH, Mohammad; JUDGE, Daniel P et al.Annals of neurology. 2012, Vol 71, Num 1, pp 141-145, issn 0364-5134, 5 p.Article

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophiesTEN DAM, Leroy; VAN DER KOOI, Anneke J; VAN WATTINGEN, Menno et al.Neurology. 2012, Vol 79, Num 16, pp 1716-1723, issn 0028-3878, 8 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

A Dystroglycan Mutation Associated with Limb-Girdle Muscular DystrophyHARA, Yuji; BALCI-HAYTA, Burcu; KUNZ, Stefan et al.The New England journal of medicine. 2011, Vol 364, Num 10, pp 939-946, issn 0028-4793, 8 p.Article

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)REILICH, Peter; KRAUSE, Sabine; SCHRAMM, Nicolai et al.Journal of neurology. 2011, Vol 258, Num 8, pp 1437-1444, issn 0340-5354, 8 p.Article

Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patientsHANISCH, Frank; GRIMM, Dörte; ZIERZ, Stephan et al.Journal of neurology. 2010, Vol 257, Num 2, pp 300-301, issn 0340-5354, 2 p.Article

Limb-Girdle Muscular Dystrophy Type 2D Gene Therapy Restores α-Sarcoglycan and Associated ProteinsMENDELL, Jerry R; RODINO-KLAPAC, Louise R; BYRNE, Barry J et al.Annals of neurology. 2009, Vol 66, Num 3, pp 290-297, issn 0364-5134, 8 p.Article

Dysferlin Deficiency Enhances Monocyte Phagocytosis : A Model for the Inflammatory Onset of Limb-Girdle Muscular Dystrophy 2BNAGARAJU, Kanneboyina; RAWAT, Rashmi; VESZELOVSZKY, Edina et al.The American journal of pathology. 2008, Vol 172, Num 3, pp 774-785, issn 0002-9440, 12 p.Article

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotypePENISSON-BESNIER, I; HACKMAN, P; SUOMINEN, T et al.Journal of neurology, neurosurgery and psychiatry. 2010, Vol 81, Num 11, pp 1200-1202, issn 0022-3050, 3 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

Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3ERMOLOVA, Natalia; KUDRYASHOVA, Elena; DIFRANCO, Marino et al.Human molecular genetics (Print). 2011, Vol 20, Num 17, pp 3331-3345, issn 0964-6906, 15 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

Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular DystrophySVEEN, Marie-Louise; THUNE, Jens Jakob; KØBER, Lars et al.Archives of neurology (Chicago). 2008, Vol 65, Num 9, pp 1196-1201, issn 0003-9942, 6 p.Article

Diagnostic strategy for limb-girdle muscular dystrophies : Maladies neuromusculairesEYMARD, B; LEVY, N.Revue neurologique (Paris). 2012, Vol 168, Num 12, pp 919-926, issn 0035-3787, 8 p.Article