95 related articles for article (PubMed ID: 21196119)
21. Low succinate dehydrogenase (SDH) activity in a patient with a hereditary myopathy with paroxysmal myoglobinuria.
Linderholm H; Essén-Gustavsson B; Thornell LE
J Intern Med; 1990 Jul; 228(1):43-52. PubMed ID: 2384736
[TBL] [Abstract][Full Text] [Related]
22. [Histochemical changes in skeletal muscles of racehorses susceptible to rhabdomyolysis after exertion. I. Early myopathological changes].
Meijer AE; van den Hoven R; Wensing T; Breukink HJ
Acta Histochem; 1989; 87(1):1-11. PubMed ID: 2532441
[TBL] [Abstract][Full Text] [Related]
23. PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis.
Rawcliffe DFR; Österman L; Nordin A; Holmberg M
Mol Genet Genomic Med; 2018 Nov; 6(6):887-897. PubMed ID: 30209894
[TBL] [Abstract][Full Text] [Related]
24. Experimental acute alcoholic myopathy--a histochemical study.
Haller RG
Muscle Nerve; 1985; 8(3):195-203. PubMed ID: 4058464
[TBL] [Abstract][Full Text] [Related]
25. Studies on the mechanism of catalysis of iron-sulfur cluster transfer from IscU[2Fe2S] by HscA/HscB chaperones.
Bonomi F; Iametti S; Morleo A; Ta D; Vickery LE
Biochemistry; 2008 Dec; 47(48):12795-801. PubMed ID: 18986169
[TBL] [Abstract][Full Text] [Related]
26. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Laforêt P; Acquaviva-Bourdain C; Rigal O; Brivet M; Penisson-Besnier I; Chabrol B; Chaigne D; Boespflug-Tanguy O; Laroche C; Bedat-Millet AL; Behin A; Delevaux I; Lombès A; Andresen BS; Eymard B; Vianey-Saban C
Neuromuscul Disord; 2009 May; 19(5):324-9. PubMed ID: 19327992
[TBL] [Abstract][Full Text] [Related]
27. A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Gurgel-Giannetti J; Lynch DS; Paiva ARB; Lucato LT; Yamamoto G; Thomsen C; Basu S; Freua F; Giannetti AV; de Assis BDR; Ribeiro MDO; Barcelos I; Sayão Souza K; Monti F; Melo US; Amorim S; Silva LGL; Macedo-Souza LI; Vianna-Morgante AM; Hirano M; Van der Knaap MS; Lill R; Vainzof M; Oldfors A; Houlden H; Kok F
Brain; 2018 Aug; 141(8):2289-2298. PubMed ID: 30010796
[TBL] [Abstract][Full Text] [Related]
28. [Hereditary myopathy with succinate dehydrogenase deficiency--a rare life-threatening disease].
Linderholm H; Almay BG; Bäcklund U; Stegmayr B; Thornell LE
Lakartidningen; 1992 Apr; 89(15):1283-8. PubMed ID: 1578996
[No Abstract] [Full Text] [Related]
29. Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Ishii K; Komaki H; Ohkuma A; Nishino I; Nonaka I; Sasaki M
Brain Dev; 2010 Sep; 32(8):669-72. PubMed ID: 19783111
[TBL] [Abstract][Full Text] [Related]
30. Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.
Horváth R; Schoser BG; Müller-Höcker J; Völpel M; Jaksch M; Lochmüller H
Neuromuscul Disord; 2005 Dec; 15(12):851-7. PubMed ID: 16288875
[TBL] [Abstract][Full Text] [Related]
31. How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
Clemen CS; Fischer D; Reimann J; Eichinger L; Müller CR; Müller HD; Goebel HH; Schröder R
Hum Mutat; 2009 Mar; 30(3):E490-9. PubMed ID: 19105189
[TBL] [Abstract][Full Text] [Related]
32. The asymmetric trimeric architecture of [2Fe-2S] IscU: implications for its scaffolding during iron-sulfur cluster biosynthesis.
Shimomura Y; Wada K; Fukuyama K; Takahashi Y
J Mol Biol; 2008 Oct; 383(1):133-43. PubMed ID: 18723024
[TBL] [Abstract][Full Text] [Related]
33. Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation.
Rodolico C; Mazzeo A; Toscano A; Pastura C; Maimone D; Musumeci O; Musolino C; Vita G
Neuromuscul Disord; 2006 Aug; 16(8):514-7. PubMed ID: 16919949
[TBL] [Abstract][Full Text] [Related]
34. Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.
de Lonlay-Debeney P; Edery P; Cormier-Daire V; Parfait B; Chrétien D; Rötig A; Romero N; Saudubray JM; Munnich A; Rustin P
Neuropediatrics; 1999 Feb; 30(1):42-4. PubMed ID: 10222461
[TBL] [Abstract][Full Text] [Related]
35. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.
Smelt AH; Poorthuis BJ; Onkenhout W; Scholte HR; Andresen BS; van Duinen SG; Gregersen N; Wintzen AR
Ann Neurol; 1998 Apr; 43(4):540-4. PubMed ID: 9546340
[TBL] [Abstract][Full Text] [Related]
36. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
Rötig A; de Lonlay P; Chretien D; Foury F; Koenig M; Sidi D; Munnich A; Rustin P
Nat Genet; 1997 Oct; 17(2):215-7. PubMed ID: 9326946
[TBL] [Abstract][Full Text] [Related]
37. Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle.
Angelos S; Valberg SJ; Smith BP; McQuarrie PS; Shanske S; Tsujino S; DiMauro S; Cardinet GH
Muscle Nerve; 1995 Jul; 18(7):736-40. PubMed ID: 7783763
[TBL] [Abstract][Full Text] [Related]
38. [Exploration of exercise intolerance by 31P NMR spectroscopy of calf muscles coupled with MRI and ergometry].
Laforêt P; Wary C; Duteil S; de Kerviler E; Carlier PG; Lombès A; Romero NB; Fardeau M; Eymard B; Leroy-Willig A
Rev Neurol (Paris); 2003 Jan; 159(1):56-67. PubMed ID: 12618654
[TBL] [Abstract][Full Text] [Related]
39. Succinate dehydrogenase deficiency.
Vladutiu GD; Heffner RR
Arch Pathol Lab Med; 2000 Dec; 124(12):1755-8. PubMed ID: 11100052
[TBL] [Abstract][Full Text] [Related]
40. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Kley RA; Hellenbroich Y; van der Ven PF; Fürst DO; Huebner A; Bruchertseifer V; Peters SA; Heyer CM; Kirschner J; Schröder R; Fischer D; Müller K; Tolksdorf K; Eger K; Germing A; Brodherr T; Reum C; Walter MC; Lochmüller H; Ketelsen UP; Vorgerd M
Brain; 2007 Dec; 130(Pt 12):3250-64. PubMed ID: 18055494
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
