Detalhe da pesquisa
1.
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
J Med Genet
; 61(4): 356-362, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050027
2.
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Hum Genet
; 138(3): 241-256, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788592
3.
Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results.
J Genet Couns
; 28(6): 1087-1097, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31408576
4.
Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.
Genet Med
; 19(3): 267-274, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27537704
5.
Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.
Muscle Nerve
; 56(2): 341-345, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27875632
6.
Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing.
J Genet Couns
; 26(3): 604-611, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761850
7.
Evidence-based consensus guidelines for ALS genetic testing and counseling.
Ann Clin Transl Neurol
; 10(11): 2074-2091, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37691292
8.
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Amyotroph Lateral Scler Frontotemporal Degener
; 24(5-6): 420-435, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896705
9.
CF versus CRMS: diagnostic challenges in cystic fibrosis.
Minn Med
; 95(10): 42-4, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23193705
10.
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.
Nat Neurosci
; 25(2): 226-237, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115730
11.
C9orf72 and the Care of the Patient With ALS or FTD: Progress and Recommendations After 10 Years.
Neurol Genet
; 7(1): e542, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33575483
12.
Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.
Neuromuscul Disord
; 31(7): 656-659, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34078557
13.
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
Genes (Basel)
; 13(1)2021 12 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35052416
14.
Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic.
Neurol Genet
; 7(5): e615, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34386583
15.
Deletion at an 1q24 locus reveals a critical role of long noncoding RNA DNM3OS in skeletal development.
Cell Biosci
; 11(1): 47, 2021 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33653390
16.
Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management.
Clin Lab Med
; 40(3): 271-287, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32718499
17.
Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis.
Front Neurosci
; 14: 603023, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33584177
18.
Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort.
Neurol Genet
; 6(1): e390, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042918
19.
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.
Front Neurol
; 11: 593, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32670189
20.
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.
Mol Genet Genomic Med
; 8(10): e1460, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815318