Detalhe da pesquisa
1.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
2.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain
; 146(9): 3800-3815, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913258
3.
Two emerging phenotypes of atypical inclusion body myositis: illustrative cases.
Clin Exp Rheumatol
; 41(2): 340-347, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861744
4.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol
; 141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33449170
5.
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Mol Biol Rep
; 48(3): 2093-2104, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742325
6.
Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study.
J Inherit Metab Dis
; 43(4): 778-786, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32060930
7.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
8.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
; 95(5): 590-601, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439726
9.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet
; 93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768512
10.
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Am J Hum Genet
; 88(6): 845-851, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21665002
11.
Innovative care model for patients with complex muscle diseases.
Curr Opin Neurol
; 27(5): 607-13, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188015
12.
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Ophthalmology
; 126(2): 320-322, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30316539
13.
Vestibular dysfunction: a frequent problem for adults with mitochondrial disease.
J Neurol Neurosurg Psychiatry
; 90(7): 838-841, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30478136
14.
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Muscle Nerve
; 50(4): 477-87, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25042182
15.
Heart rate and perceived muscle pain responses to a functional walking test in McArdle disease.
J Sports Sci
; 32(16): 1561-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24731154
16.
Neurodiversity, treatment compliance and survival in adults with Duchenne muscular dystrophy: a single-centre retrospective cohort review.
Neuromuscul Disord
; 35: 13-18, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194731
17.
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.
Neuromuscul Disord
; 34: 49-53, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150892
18.
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.
J Neuromuscul Dis
; 11(1): 103-116, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38108358
19.
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
Hum Mol Genet
; 20(3): 589-600, 2011 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21088110
20.
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 84(6): 698-705, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23250964