Detalhe da pesquisa
1.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
J Med Genet
; 60(1): 65-73, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34872991
2.
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis.
Ann Neurol
; 92(2): 201-212, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35596584
3.
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
Neuropathol Appl Neurobiol
; 48(1): e12761, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405429
4.
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
BMC Neurol
; 22(1): 428, 2022 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380287
5.
Progressive external ophthalmoplegia associated with novel MT-TN mutations.
Acta Neurol Scand
; 143(1): 103-108, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32869280
6.
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Brain
; 143(8): 2406-2420, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32779703
7.
Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy.
Muscle Nerve
; 61(3): 363-368, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31875971
8.
Perceived fatigue in myotonic dystrophy type 1: a case-control study.
BMC Neurol
; 19(1): 45, 2019 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30922263
9.
Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis.
Acta Neurol Scand
; 139(2): 177-182, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30347435
10.
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
Hum Mol Genet
; 22(12): 2411-22, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446635
11.
Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
Mol Genet Metab
; 113(1-2): 84-91, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25085280
12.
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Ann Neurol
; 74(6): 914-9, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23798481
13.
Neurocognitive disorder in Myotonic dystrophy type 1.
Heliyon
; 10(10): e30875, 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778932
14.
Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia.
Heliyon
; 10(1): e23347, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38163227
15.
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
N Engl J Med
; 362(13): 1203-10, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20357282
16.
Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.
Am J Med Genet A
; 161A(10): 2431-43, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23997011
17.
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
18.
Inclusion body myositis with early onset: a population-based study.
J Neurol
; 270(11): 5483-5492, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37498322
19.
Estimation of kidney function in patients with primary neuromuscular diseases: is serum cystatin C a better marker of kidney function than creatinine?
J Nephrol
; 35(2): 493-503, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34351595
20.
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant.
Brain Pathol
; 32(4): e13038, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34806237