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Items: 1 to 20 of 103

1.

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

Peterle E, Fanin M, Semplicini C, Padilla JJ, Nigro V, Angelini C.

J Neurol. 2013 Aug;260(8):2033-41. doi: 10.1007/s00415-013-6931-1. Epub 2013 Apr 30.

PMID:
23632945
2.

Ultrastructural changes in LGMD1F.

Cenacchi G, Peterle E, Fanin M, Papa V, Salaroli R, Angelini C.

Neuropathology. 2013 Jun;33(3):276-80. doi: 10.1111/neup.12003. Epub 2012 Dec 21.

PMID:
23279333
3.

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).

Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H.

J Neurol. 2011 Aug;258(8):1437-44. doi: 10.1007/s00415-011-5953-9. Epub 2011 Feb 20.

PMID:
21336781
4.

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):205-8. Epub 2007 Aug 13.

PMID:
17698502
5.

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F.

Neuromuscul Disord. 2005 Feb;15(2):164-71. Epub 2004 Nov 26.

PMID:
15694138
6.

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

Sandell S, Huovinen S, Sarparanta J, Luque H, Raheem O, Haapasalo H, Hackman P, Udd B.

J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):834-9. doi: 10.1136/jnnp.2009.192351.

PMID:
20682716
7.

Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.

Diers A, Carl M, Stoltenburg-Didinger G, Vorgerd M, Spuler S.

Neuromuscul Disord. 2007 Feb;17(2):157-62. Epub 2006 Nov 28.

PMID:
17129727
8.

Sarcoglycanopathies: a clinico-pathological study.

Meena AK, Sreenivas D, Sundaram C, Rajasekhar R, Sita JS, Borgohain R, Suvarna A, Kaul S.

Neurol India. 2007 Apr-Jun;55(2):117-21.

9.

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

Paradas C, Llauger J, Diaz-Manera J, Rojas-García R, De Luna N, Iturriaga C, Márquez C, Usón M, Hankiewicz K, Gallardo E, Illa I.

Neurology. 2010 Jul 27;75(4):316-23. doi: 10.1212/WNL.0b013e3181ea1564. Epub 2010 Jun 23.

PMID:
20574037
10.

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y.

J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):433-40. doi: 10.1136/jnnp-2011-301339. Epub 2012 Dec 15.

11.

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1485-96. Epub 2007 Apr 17.

PMID:
17439987
12.

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.

Clin Neurol Neurosurg. 2013 Aug;115(8):1234-7. doi: 10.1016/j.clineuro.2012.11.010. Epub 2012 Dec 14.

PMID:
23254335
13.

Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.

Pathak P, Sharma MC, Sarkar C, Jha P, Suri V, Mohd H, Singh S, Bhatia R, Gulati S.

Neurol India. 2010 Jul-Aug;58(4):549-54. doi: 10.4103/0028-3886.68675.

14.

Dysferlinopathy: a clinical and histopathological study of 28 patients from India.

Nalini A, Gayathri N.

Neurol India. 2008 Jul-Sep;56(3):379-85; discussion 386-7.

15.

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M.

Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18.

PMID:
24647604
16.

Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

Hauerslev S, Sveen ML, Duno M, Angelini C, Vissing J, Krag TO.

BMC Musculoskelet Disord. 2012 Mar 23;13:43. doi: 10.1186/1471-2474-13-43.

17.

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Palmio J, Jonson PH, Evilä A, Auranen M, Straub V, Bushby K, Sarkozy A, Kiuru-Enari S, Sandell S, Pihko H, Hackman P, Udd B.

Neuromuscul Disord. 2015 Nov;25(11):835-42. doi: 10.1016/j.nmd.2015.07.014. Epub 2015 Jul 27.

PMID:
26338452
18.

Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype.

Golla S, Agadi S, Burns DK, Marks W, Dev Batish S, del Gaudio D, Iannaccone ST.

J Clin Neuromuscul Dis. 2010 Jun;11(4):203-8. doi: 10.1097/CND.0b013e3181c7f18f.

PMID:
20516809
19.

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E.

Arch Neurol. 2005 Dec;62(12):1894-9.

PMID:
16344347
20.

Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.

Flix B, de la Torre C, Castillo J, Casal C, Illa I, Gallardo E.

Int J Biochem Cell Biol. 2013 Aug;45(8):1927-38. doi: 10.1016/j.biocel.2013.06.007. Epub 2013 Jun 19.

PMID:
23792176

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