Detalhe da pesquisa
1.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947183
2.
Hypoglycemia in patients with congenital muscle disease.
BMC Pediatr
; 20(1): 57, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32028919
3.
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
4.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
5.
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
6.
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
7.
English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases.
Arch Phys Med Rehabil
; 95(11): 2064-2070.e1, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24862765
8.
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585796
9.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
10.
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
11.
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
Neuromuscul Disord
; 27(6): 531-536, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28416349
12.
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.
Neuromuscul Disord
; 27(3): 278-285, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087121
13.
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
J Child Neurol
; 31(9): 1114-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27034427
14.
'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.
Neuromuscul Disord
; 23(12): 955-61, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24070816