Detalhe da pesquisa
1.
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
Brain;
146(10): 4217-4232, 2023 10 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37143315
2.
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Muscle Nerve;
65(5): 560-567, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35179228
3.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Genet Med;
23(2): 259-271, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33093671
4.
Dynamic regulation of connexins in stem cell pluripotency.
Stem Cells;
38(1): 52-66, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31646713
5.
Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.
Muscle Nerve;
64(2): 219-224, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34037996
6.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Am J Hum Genet;
100(4): 659-665, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28318499
7.
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Mol Genet Metab;
130(1): 58-64, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32173240
8.
A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis.
J Gen Intern Med;
34(6): 1058-1062, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30887439
9.
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.
Cerebellum;
17(5): 692-697, 2018 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29949095
10.
Advances in the Therapy of Spinal Muscular Atrophy.
J Pediatr;
236: 13-20.e1, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34197889
11.
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients.
Biochem J;
472(1): 55-69, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26349540
12.
Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Curr Neurol Neurosci Rep;
15(9): 59, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26198888
13.
Recent advances in myotonic dystrophy type 2.
Curr Neurol Neurosci Rep;
14(2): 429, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24435591
14.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Ann Clin Transl Neurol;
11(3): 629-640, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38311799
15.
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Am J Hum Genet;
86(3): 462-70, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20188345
16.
Learning Spectral Fractional Anisotropy and Mean Diffusivity Features as Neuroimaging Biomarkers for Tracking White Matter Integrity Changes in Myotonic Dystrophy Type 1 Patients using Deep Convolutional Neural Networks.
Annu Int Conf IEEE Eng Med Biol Soc;
2023: 1-4, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38083393
17.
Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy.
J Clin Med;
12(20)2023 Oct 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37892834
18.
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Lancet Neurol;
22(2): 127-136, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36681445
19.
The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation.
Exp Dermatol;
21(8): 612-8, 2012 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22775996
20.
A 31-Year-Old Man With a Ring-Enhancing Brain Lesion.
J Neuroophthalmol;
37(2): 172-175, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28079760