Detalhe da pesquisa
1.
Titin copy number variations associated with dominant inherited phenotypes.
J Med Genet
; 61(4): 369-377, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935568
2.
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
3.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Brain
; 144(8): 2427-2442, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792664
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.
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
6.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569547
7.
Limb girdle muscular dystrophy due to mutations in POMT2.
J Neurol Neurosurg Psychiatry
; 89(5): 506-512, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29175898
8.
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
J Neuromuscul Dis
; 10(1): 125-133, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373293
9.
Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy.
Neuropediatrics
; 48(6): 473-476, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28778101
10.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nat Commun
; 13(1): 2306, 2022 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35484142
11.
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Eur J Med Genet
; 63(12): 104063, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32947049
12.
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.
Neurol Genet
; 5(2): e321, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119192
13.
Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.
Mol Ther Nucleic Acids
; 10: 376-386, 2018 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499949
14.
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.
J Neuropathol Exp Neurol
; 77(12): 1101-1114, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365001
15.
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Neurol Genet
; 3(6): e208, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29264399
16.
A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
J Neurol
; 253(6): 714-9, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16511635
17.
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.
J Neuromuscul Dis
; 3(4): 497-510, 2016 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27911330
18.
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.
J Neuromuscul Dis
; 2(3): 229-240, 2015 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858741
19.
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
Neurology
; 85(24): 2126-35, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581302
20.
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Eur J Hum Genet
; 23(7): 929-34, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351777