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1.
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Muscle Nerve
; 68(6): 833-840, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37789688
2.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat
; 43(4): 511-528, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35165973
3.
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Ann Neurol
; 87(4): 487-496, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32057122
4.
Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy.
Muscle Nerve
; 64(2): 153-155, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33959970
5.
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Hum Mutat
; 41(3): 632-640, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31696996
6.
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Am J Med Genet A
; 182(3): 557-560, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31833174
7.
Update in Duchenne and Becker muscular dystrophy.
Curr Opin Neurol
; 32(5): 722-727, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31343429
8.
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(11): 2663, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31267042
9.
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(12): 2713-2722, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31155615
10.
Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.
Neuropediatrics
; 50(2): 96-102, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30665247
11.
Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.
Am J Med Genet A
; 176(5): 1207-1211, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29681093
12.
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.
J Neuromuscul Dis
; 11(1): 129-142, 2024.
Article
in English
| MEDLINE | ID: mdl-38160362
13.
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
Int J Neonatal Screen
; 10(2)2024 Apr 18.
Article
in English
| MEDLINE | ID: mdl-38651399
14.
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study.
J Neuromuscul Dis
; 11(3): 679-685, 2024.
Article
in English
| MEDLINE | ID: mdl-38461513
15.
Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio.
Neuromuscul Disord
; 34: 41-48, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38142474
16.
A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.
Eur J Hum Genet
; 31(6): 663-673, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36935420
17.
Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.
Neurology
; 98(7): e730-e738, 2022 02 15.
Article
in English
| MEDLINE | ID: mdl-34937785
18.
A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2.
Mol Ther Methods Clin Dev
; 27: 47-60, 2022 Dec 08.
Article
in English
| MEDLINE | ID: mdl-36186954
19.
Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy.
Pediatr Pulmonol
; 56(4): 710-720, 2021 04.
Article
in English
| MEDLINE | ID: mdl-32886442
20.
Spinal Muscular Atrophy.
Semin Pediatr Neurol
; 37: 100878, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33892848