Detalhe da pesquisa
1.
Hereditary myopathy with early respiratory failure: occurrence in various populations.
J Neurol Neurosurg Psychiatry
; 85(3): 345-53, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606733
2.
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
Brain
; 135(Pt 6): 1682-94, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22577218
3.
SKY analysis revealed recurrent numerical and structural chromosome changes in BDII rat endometrial carcinomas.
Cancer Cell Int
; 11(1): 20, 2011 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-21708004
4.
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Brain
; 137(Pt 4): e270, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24231549
5.
Molecular classification of spontaneous endometrial adenocarcinomas in BDII rats.
Endocr Relat Cancer
; 16(1): 99-111, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19075038
6.
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
Eur J Hum Genet
; 22(5): 707-10, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24084573
7.
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.
Neuromuscul Disord
; 24(5): 373-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24636144
8.
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
J Neurol
; 261(5): 870-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24570283
9.
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
Eur J Hum Genet
; 20(9): 984-5, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22395865
10.
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
Neuromuscul Disord
; 22(3): 244-51, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22101172
11.
Reply to Brodehl et al.
Eur J Hum Genet
; 21(6): 590, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23032113