Detalhe da pesquisa
1.
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
Muscle Nerve
; 58(6): 812-817, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30066418
2.
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Brain
; 137(Pt 12): 3160-70, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25260562
3.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Am J Hum Genet
; 87(6): 842-7, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21109227
4.
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
J Neurol
; 269(7): 3550-3562, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286480
5.
Nemaline myopathy type 6: clinical and myopathological features.
Muscle Nerve
; 42(6): 901-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21104864
6.
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Genes (Basel)
; 11(5)2020 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403337
7.
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.
Front Aging Neurosci
; 9: 268, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28848425
8.
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Orphanet J Rare Dis
; 7: 82, 2012 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23092449
9.
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Neuromuscul Disord
; 21(8): 533-42, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21676617
10.
[Brain abscess caused by Eikenella corrodens and Streptococcus intermedius associated with bowel carcinoid tumour]. / Absceso cerebral por Eikenella corrodens y Streptococcus intermedius asociado a tumor carcinoide del tubo digestivo.
Med Clin (Barc)
; 125(3): 117-8, 2005 Jun 18.
Artigo
em Espanhol
| MEDLINE | ID: mdl-15989847