241 related articles for article (PubMed ID: 21665002)
21. Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
Cabrera-Serrano M; Junckerstorff RC; Atkinson V; Sivadorai P; Allcock RJ; Lamont P; Laing NG
Muscle Nerve; 2015 Jan; 51(1):140-3. PubMed ID: 25187204
[TBL] [Abstract][Full Text] [Related]
22. Phospholipid synthetic defect and mitophagy in muscle disease.
Mitsuhashi S; Nishino I
Autophagy; 2011 Dec; 7(12):1559-61. PubMed ID: 22024749
[TBL] [Abstract][Full Text] [Related]
23. Mechanism of action and therapeutic route for a muscular dystrophy caused by a genetic defect in lipid metabolism.
Tavasoli M; Lahire S; Sokolenko S; Novorolsky R; Reid SA; Lefsay A; Otley MOC; Uaesoontrachoon K; Rowsell J; Srinivassane S; Praest M; MacKinnon A; Mammoliti MS; Maloney AA; Moraca M; Pedro Fernandez-Murray J; McKenna M; Sinal CJ; Nagaraju K; Robertson GS; Hoffman EP; McMaster CR
Nat Commun; 2022 Mar; 13(1):1559. PubMed ID: 35322809
[TBL] [Abstract][Full Text] [Related]
24. New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.
Oliveira J; Negrão L; Fineza I; Taipa R; Melo-Pires M; Fortuna AM; Gonçalves AR; Froufe H; Egas C; Santos R; Sousa M
J Hum Genet; 2015 Jun; 60(6):305-12. PubMed ID: 25740612
[TBL] [Abstract][Full Text] [Related]
25. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.
Triki C; Louhichi N; Méziou M; Choyakh F; Kéchaou MS; Jlidi R; Mhiri C; Fakhfakh F; Ayadi H
Neuromuscul Disord; 2003 Jan; 13(1):4-12. PubMed ID: 12467726
[TBL] [Abstract][Full Text] [Related]
26. Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.
Castro-Gago M; Dacruz-Alvarez D; Pintos-Martínez E; Beiras-Iglesias A; Delmiro A; Arenas J; Martín MÁ; Martínez-Azorín F
Eur J Paediatr Neurol; 2014 Nov; 18(6):796-800. PubMed ID: 24997086
[TBL] [Abstract][Full Text] [Related]
27. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.
Quinlivan R; Mitsuahashi S; Sewry C; Cirak S; Aoyama C; Mooore D; Abbs S; Robb S; Newton T; Moss C; Birchall D; Sugimoto H; Bushby K; Guglieri M; Muntoni F; Nishino I; Straub V
Neuromuscul Disord; 2013 Jul; 23(7):549-56. PubMed ID: 23692895
[TBL] [Abstract][Full Text] [Related]
28. Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.
Castro-Gago M; Dacruz-Alvarez D; Pintos-Martínez E; Beiras-Iglesias A; Arenas J; Martín MÁ; Martínez-Azorín F
Brain Dev; 2016 Jan; 38(1):167-72. PubMed ID: 26006750
[TBL] [Abstract][Full Text] [Related]
29. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Brockington M; Blake DJ; Prandini P; Brown SC; Torelli S; Benson MA; Ponting CP; Estournet B; Romero NB; Mercuri E; Voit T; Sewry CA; Guicheney P; Muntoni F
Am J Hum Genet; 2001 Dec; 69(6):1198-209. PubMed ID: 11592034
[TBL] [Abstract][Full Text] [Related]
30. Differential expression of choline kinase isoforms in skeletal muscle explains the phenotypic variability in the rostrocaudal muscular dystrophy mouse.
Wu G; Sher RB; Cox GA; Vance DE
Biochim Biophys Acta; 2010 Apr; 1801(4):446-54. PubMed ID: 20026284
[TBL] [Abstract][Full Text] [Related]
31. [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].
Murakami T; Nishino I
Brain Nerve; 2008 Oct; 60(10):1159-64. PubMed ID: 18975603
[TBL] [Abstract][Full Text] [Related]
32. POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
von Renesse A; Petkova MV; Lützkendorf S; Heinemeyer J; Gill E; Hübner C; von Moers A; Stenzel W; Schuelke M
J Med Genet; 2014 Apr; 51(4):275-82. PubMed ID: 24556084
[TBL] [Abstract][Full Text] [Related]
33. Mitochondrial abnormalities in oculopharyngeal muscular dystrophy.
Wong KT; Dick D; Anderson JR
Neuromuscul Disord; 1996 May; 6(3):163-6. PubMed ID: 8784803
[TBL] [Abstract][Full Text] [Related]
34. Novel LMNA mutation presenting as severe congenital muscular dystrophy.
Prigogine C; Richard P; Van den Bergh P; Groswasser J; Deconinck N
Pediatr Neurol; 2010 Oct; 43(4):283-6. PubMed ID: 20837309
[TBL] [Abstract][Full Text] [Related]
35. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.
De Fuenmayor-Fernández De La Hoz CP; Domínguez-González C; Gonzalo-Martínez JF; Esteban-Pérez J; Fernández-Marmiesse A; Arenas J; Martín MA; Hernández-Laín A
Muscle Nerve; 2016 Oct; 54(4):806-8. PubMed ID: 27169979
[No Abstract] [Full Text] [Related]
36. Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.
Voit T; Parano E; Straub V; Schröder JM; Schaper J; Pavone P; Falsaperla R; Pavone L; Herrmann R
Neuromuscul Disord; 2002 Oct; 12(7-8):623-30. PubMed ID: 12207929
[TBL] [Abstract][Full Text] [Related]
37. Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB.
Gong Z; Chen K; Xu Z; Yang Z; Wang H; Lin Z
J Eur Acad Dermatol Venereol; 2024 Apr; 38(4):e323-e325. PubMed ID: 37907281
[No Abstract] [Full Text] [Related]
38. Congenital myopathies and congenital muscular dystrophies.
Tubridy N; Fontaine B; Eymard B
Curr Opin Neurol; 2001 Oct; 14(5):575-82. PubMed ID: 11562568
[TBL] [Abstract][Full Text] [Related]
39. Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.
Gutiérrez Ríos P; Kalra AA; Wilson JD; Tanji K; Akman HO; Area Gómez E; Schon EA; DiMauro S
Arch Neurol; 2012 May; 69(5):657-61. PubMed ID: 22782513
[TBL] [Abstract][Full Text] [Related]
40. A mouse model of inherited choline kinase β-deficiency presents with specific cardiac abnormalities and a predisposition to arrhythmia.
Tavasoli M; Feridooni T; Feridooni H; Sokolenko S; Mishra A; Lefsay A; Srinivassane S; Reid SA; Rowsell J; Praest M; MacKinnon A; Mammoliti M; Maloney AA; Moraca M; Uaesoontrachoon K; Nagaraju K; Hoffman EP; Pasumarthi KBS; McMaster CR
J Biol Chem; 2022 Mar; 298(3):101716. PubMed ID: 35151687
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]