Detalhe da pesquisa
1.
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
2.
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
Hum Mol Genet
; 26(12): 2207-2217, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28419360
3.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
Am J Hum Genet
; 99(5): 1086-1105, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745833
4.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Genet Med
; 20(1): 42-54, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617417
5.
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
; 89(1): 72-77, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889091
6.
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Muscle Nerve
; 57(1): 54-60, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28224647
7.
Electrical impedance myography discriminates congenital muscular dystrophy from controls.
Muscle Nerve
; 53(3): 402-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179210
8.
Imaging findings in a child with calcineurin inhibitor-induced pain syndrome after bone marrow transplant for beta thalassemia major.
Pediatr Radiol
; 46(11): 1618-21, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27324395
9.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Hum Mutat
; 36(1): 48-56, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25204870
10.
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
Muscle Nerve
; 51(5): 767-72, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25430424
11.
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
12.
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Hum Mutat
; 34(11): 1558-67, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038877
13.
Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.
Ann Clin Transl Neurol
; 8(11): 2184-2198, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34729958
14.
A Cross-Sectional Study of Nemaline Myopathy.
Neurology
; 96(10): e1425-e1436, 2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397769
15.
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Neurology
; 96(10): e1413-e1424, 2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33441455
16.
Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study.
J Neuromuscul Dis
; 7(4): 407-417, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32538860
17.
Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two cases.
JIMD Rep
; 54(1): 54-60, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32685351
18.
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients.
Neuromuscul Disord
; 30(9): 742-749, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32819793
19.
Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.
J Neuromuscul Dis
; 6(4): 475-483, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498126
20.
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Neurology
; 93(21): e1932-e1943, 2019 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31653707