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.
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
3.
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
4.
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Mol Genet Metab
; 130(1): 58-64, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32173240
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019.
Orphanet J Rare Dis
; 17(1): 79, 2022 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35197080
12.
Cognitive Impairment Analysis of Myotonic Dystrophy via Weakly Supervised Classification of Neuropsychological Features.
Annu Int Conf IEEE Eng Med Biol Soc
; 2022: 4377-4382, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36086274
13.
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Hum Mutat
; 32(3): 299-308, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21972111
14.
Transcriptome alterations in myotonic dystrophy frontal cortex.
Cell Rep
; 34(3): 108634, 2021 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33472074
15.
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
JCI Insight
; 6(14)2021 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34291734
16.
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.
J Comp Eff Res
; 9(14): 973-984, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851872
17.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Hum Mutat
; 30(12): 1657-66, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19937601
18.
Correction: Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019.
Orphanet J Rare Dis
; 17(1): 260, 2022 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35818080
19.
An unusual pathologic feature associated with dermatomyositis.
Neuromuscul Disord
; 16(6): 391-3, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16697198
20.
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Orphanet J Rare Dis
; 10: 135, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471370