247 related articles for article (PubMed ID: 23254335)
1. 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. PubMed ID: 23254335
[TBL] [Abstract][Full Text] [Related]
2. Dysferlinopathy: a clinical and histopathological study of 28 patients from India.
Nalini A; Gayathri N
Neurol India; 2008; 56(3):379-85; discussion 386-7. PubMed ID: 18974568
[TBL] [Abstract][Full Text] [Related]
3. New aspects on patients affected by dysferlin deficient muscular dystrophy.
Klinge L; Aboumousa A; Eagle M; Hudson J; Sarkozy A; Vita G; Charlton R; Roberts M; Straub V; Barresi R; Lochmüller H; Bushby K
J Neurol Neurosurg Psychiatry; 2010 Sep; 81(9):946-53. PubMed ID: 19528035
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
Nguyen K; Bassez G; Krahn M; Bernard R; Laforêt P; Labelle V; Urtizberea JA; Figarella-Branger D; Romero N; Attarian S; Leturcq F; Pouget J; Lévy N; Eymard B
Arch Neurol; 2007 Aug; 64(8):1176-82. PubMed ID: 17698709
[TBL] [Abstract][Full Text] [Related]
5. Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
Xi J; Blandin G; Lu J; Luo S; Zhu W; Béroud C; Pécheux C; Labelle V; Lévy N; Urtizberea JA; Zhao C; Krahn M
Neurol India; 2014; 62(6):635-9. PubMed ID: 25591676
[TBL] [Abstract][Full Text] [Related]
6. Heterogeneous characteristics of Korean patients with dysferlinopathy.
Park HJ; Hong JM; Suh GI; Shin HY; Kim SM; Sunwoo IN; Suh BC; Choi YC
J Korean Med Sci; 2012 Apr; 27(4):423-9. PubMed ID: 22468107
[TBL] [Abstract][Full Text] [Related]
7. Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.
Szymanska S; Rokicki D; Karkucinska-Wieckowska A; Szymanska-Debinska T; Ciara E; Ploski R; Grajkowska W; Pronicki M
Folia Neuropathol; 2014; 52(4):452-6. PubMed ID: 25574751
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 23243261
[TBL] [Abstract][Full Text] [Related]
9. Novel DYSF mutations in Thai patients with distal myopathy.
Liewluck T; Pongpakdee S; Witoonpanich R; Sangruchi T; Pho-Iam T; Limwongse C; Thongnoppakhun W; Boonyapisit K; Sopassathit V; Phudhichareonrat S; Suthiponpaisan U; Raksadawan N; Goto K; Hayashi YK; Nishino I
Clin Neurol Neurosurg; 2009 Sep; 111(7):613-8. PubMed ID: 19493611
[TBL] [Abstract][Full Text] [Related]
10. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
Cacciottolo M; Numitone G; Aurino S; Caserta IR; Fanin M; Politano L; Minetti C; Ricci E; Piluso G; Angelini C; Nigro V
Eur J Hum Genet; 2011 Sep; 19(9):974-80. PubMed ID: 21522182
[TBL] [Abstract][Full Text] [Related]
11. Dysferlinopathies: Clinical and genetic variability.
Ivanova A; Smirnikhina S; Lavrov A
Clin Genet; 2022 Dec; 102(6):465-473. PubMed ID: 36029111
[TBL] [Abstract][Full Text] [Related]
12. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
Kawabe K; Goto K; Nishino I; Angelini C; Hayashi YK
Eur J Neurol; 2004 Oct; 11(10):657-61. PubMed ID: 15469449
[TBL] [Abstract][Full Text] [Related]
13. Late onset in dysferlinopathy widens the clinical spectrum.
Klinge L; Dean AF; Kress W; Dixon P; Charlton R; Müller JS; Anderson LV; Straub V; Barresi R; Lochmüller H; Bushby K
Neuromuscul Disord; 2008 Apr; 18(4):288-90. PubMed ID: 18396043
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.
Ro LS; Lee-Chen GJ; Lin TC; Wu YR; Chen CM; Lin CY; Chen ST
Arch Neurol; 2004 Oct; 61(10):1594-9. PubMed ID: 15477515
[TBL] [Abstract][Full Text] [Related]
15. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Nguyen K; Bassez G; Bernard R; Krahn M; Labelle V; Figarella-Branger D; Pouget J; Hammouda el H; Béroud C; Urtizberea A; Eymard B; Leturcq F; Lévy N
Hum Mutat; 2005 Aug; 26(2):165. PubMed ID: 16010686
[TBL] [Abstract][Full Text] [Related]
16. Dysferlinopathy in Iran: Clinical and genetic report.
Fatehi F; Nafissi S; Urtizberea JA; Blanck-Labelle V; Lévy N; Krahn M; Dbouk MB; Attarian S
J Neurol Sci; 2015 Dec; 359(1-2):256-9. PubMed ID: 26671124
[TBL] [Abstract][Full Text] [Related]
17. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
Bolduc V; Marlow G; Boycott KM; Saleki K; Inoue H; Kroon J; Itakura M; Robitaille Y; Parent L; Baas F; Mizuta K; Kamata N; Richard I; Linssen WH; Mahjneh I; de Visser M; Bashir R; Brais B
Am J Hum Genet; 2010 Feb; 86(2):213-21. PubMed ID: 20096397
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 17129727
[TBL] [Abstract][Full Text] [Related]
19. The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.
Wang N; Han X; Hao S; Han J; Zhou X; Sun S; Tang J; Lu Y; Wu H; Ma S; Song X; Ji G
BMC Neurol; 2022 Nov; 22(1):398. PubMed ID: 36319958
[TBL] [Abstract][Full Text] [Related]
20. Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.
Park YE; Kim HS; Lee CH; Nam TS; Choi YC; Kim DS
Neuromuscul Disord; 2012 Jun; 22(6):505-10. PubMed ID: 22297152
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
