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Items: 1 to 20 of 93

1.

Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.

Voermans NC, Laan AE, Oosterhof A, van Kuppevelt TH, Drost G, Lammens M, Kamsteeg EJ, Scotton C, Gualandi F, Guglielmi V, van den Heuvel L, Vattemi G, van Engelen BG.

Neuromuscul Disord. 2012 Nov;22(11):944-54. doi: 10.1016/j.nmd.2012.03.012. Epub 2012 Jun 15.

PMID:
22704959
2.

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.

Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt TH, Dallapiccola B, van Engelen BG, Ferlini A, Tomelleri G.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):162-9. doi: 10.1016/j.ymgme.2013.07.015. Epub 2013 Jul 20.

PMID:
23911890
3.

Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.

Vattemi G, Gualandi F, Oosterhof A, Marini M, Tonin P, Rimessi P, Neri M, Guglielmi V, Russignan A, Poli C, van Kuppevelt TH, Ferlini A, Tomelleri G.

J Neuropathol Exp Neurol. 2010 Mar;69(3):246-52. doi: 10.1097/NEN.0b013e3181d0f7d5.

PMID:
20142766
4.

The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.

Odermatt A, Barton K, Khanna VK, Mathieu J, Escolar D, Kuntzer T, Karpati G, MacLennan DH.

Hum Genet. 2000 May;106(5):482-91.

PMID:
10914677
5.

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.

Odermatt A, Taschner PE, Khanna VK, Busch HF, Karpati G, Jablecki CK, Breuning MH, MacLennan DH.

Nat Genet. 1996 Oct;14(2):191-4.

PMID:
8841193
6.

Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.

Drögemüller C, Drögemüller M, Leeb T, Mascarello F, Testoni S, Rossi M, Gentile A, Damiani E, Sacchetto R.

Genomics. 2008 Dec;92(6):474-7. doi: 10.1016/j.ygeno.2008.07.014. Epub 2008 Sep 25.

7.

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.

Odermatt A, Taschner PE, Scherer SW, Beatty B, Khanna VK, Cornblath DR, Chaudhry V, Yee WC, Schrank B, Karpati G, Breuning MH, Knoers N, MacLennan DH.

Genomics. 1997 Nov 1;45(3):541-53.

PMID:
9367679
8.

Atypical nuclear abnormalities in a patient with Brody disease.

Mussini JM, Magot A, Hantaï D, Sternberg D, Chevessier F, Péréon Y.

Neuromuscul Disord. 2015 Oct;25(10):773-9. doi: 10.1016/j.nmd.2015.07.005. Epub 2015 Jul 13.

PMID:
26248958
9.

Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease.

Zhang Y, Fujii J, Phillips MS, Chen HS, Karpati G, Yee WC, Schrank B, Cornblath DR, Boylan KB, MacLennan DH.

Genomics. 1995 Dec 10;30(3):415-24.

PMID:
8825625
10.

Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf.

Grünberg W, Sacchetto R, Wijnberg I, Neijenhuis K, Mascarello F, Damiani E, Drögemüller C.

Neuromuscul Disord. 2010 Jul;20(7):467-70. doi: 10.1016/j.nmd.2010.04.010. Epub 2010 Jun 14.

PMID:
20547455
11.

Targeted disruption of the ATP2A1 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is lethal in neonatal mice.

Pan Y, Zvaritch E, Tupling AR, Rice WJ, de Leon S, Rudnicki M, McKerlie C, Banwell BL, MacLennan DH.

J Biol Chem. 2003 Apr 11;278(15):13367-75. Epub 2003 Jan 28.

12.

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations.

Murgiano L, Sacchetto R, Testoni S, Dorotea T, Mascarello F, Liguori R, Gentile A, Drögemüller C.

BMC Vet Res. 2012 Oct 9;8:186. doi: 10.1186/1746-6148-8-186.

13.

Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle.

Mascarello F, Sacchetto R.

Ann Anat. 2016 Sep;207:21-6. doi: 10.1016/j.aanat.2016.05.002. Epub 2016 May 19.

PMID:
27210062
14.

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility.

Sambuughin N, Zvaritch E, Kraeva N, Sizova O, Sivak E, Dickson K, Weglinski M, Capacchione J, Muldoon S, Riazi S, Hamilton S, Brandom B, MacLennan DH.

Mol Genet Genomic Med. 2014 Nov;2(6):472-83. doi: 10.1002/mgg3.91. Epub 2014 Jun 6.

15.

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.

Novelli A, Valente EM, Bernardini L, Ceccarini C, Sinibaldi L, Caputo V, Cavalli P, Dallapiccola B.

Eur J Hum Genet. 2004 Jul;12(7):579-83.

16.

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.

Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.

Rev Biol Trop. 2008 Mar;56(1):1-11.

PMID:
18624224
17.

Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case.

Dorotea T, Grünberg W, Murgiano L, Plattet P, Drögemüller C, Mascarello F, Sacchetto R.

Neuromuscul Disord. 2015 Nov;25(11):888-97. doi: 10.1016/j.nmd.2015.08.010. Epub 2015 Sep 5.

PMID:
26482047
18.

A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle.

Sacchetto R, Testoni S, Gentile A, Damiani E, Rossi M, Liguori R, Drögemüller C, Mascarello F.

Am J Pathol. 2009 Feb;174(2):565-73. doi: 10.2353/ajpath.2009.080659. Epub 2008 Dec 30.

19.

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Lyons MJ, Duron R, Molinero I, Sangiuolo F, Holden KR.

Pediatr Neurol. 2010 May;42(5):365-8. doi: 10.1016/j.pediatrneurol.2010.01.014.

PMID:
20399394
20.

accordion, a zebrafish behavioral mutant, has a muscle relaxation defect due to a mutation in the ATPase Ca2+ pump SERCA1.

Hirata H, Saint-Amant L, Waterbury J, Cui W, Zhou W, Li Q, Goldman D, Granato M, Kuwada JY.

Development. 2004 Nov;131(21):5457-68. Epub 2004 Oct 6.

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