Detalhe da pesquisa
1.
Comparison of strength testing modalities in dysferlinopathy.
Muscle Nerve
; 66(2): 159-166, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506767
2.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve
; 65(5): 531-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179231
3.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381069
4.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403198
5.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
6.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 89(7): 762-768, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437916
7.
The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.
J Biol Chem
; 291(29): 14939-53, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27226619
8.
The importance of genetic diagnosis for Duchenne muscular dystrophy.
J Med Genet
; 53(3): 145-51, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26754139
9.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol
; 1031: 55-94, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29214566
10.
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hum Mol Genet
; 23(9): 2353-63, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334769
11.
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy.
Muscle Nerve
; 54(1): 79-85, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26599341
12.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Brain
; 138(Pt 9): 2493-504, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26133662
13.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.
J Neurol Neurosurg Psychiatry
; 86(10): 1060-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25476005
14.
Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy.
Neuropediatrics
; 46(6): 371-6, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26408798
15.
Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy.
Hum Mutat
; 35(7): 868-79, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664454
16.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet
; 88(2): 162-72, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310273
17.
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
J Neurol Neurosurg Psychiatry
; 85(12): 1359-65, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24695763
18.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
J Neurol Neurosurg Psychiatry
; 85(3): 331-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23486992
19.
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
J Gen Intern Med
; 29 Suppl 3: S780-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25029978
20.
A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.
Clin Rehabil
; 28(5): 508-19, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24240060