Search details
1.
Left ventricular dysfunction in Duchenne muscular dystrophy.
Cardiol Young
; 30(2): 171-176, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31964455
2.
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
Neurogenetics
; 20(3): 129-143, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31041561
3.
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
Muscle Nerve
; 57(4): 550-560, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29149770
4.
CNS myelination requires cytoplasmic dynein function.
Dev Dyn
; 244(2): 134-45, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25488883
5.
The motor neuron response to SMN1 deficiency in spinal muscular atrophy.
Muscle Nerve
; 49(5): 636-44, 2014 May.
Article
in English
| MEDLINE | ID: mdl-23893312
6.
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Neurology
; 102(5): e208112, 2024 Mar 12.
Article
in English
| MEDLINE | ID: mdl-38335499
7.
Patterns of growth in ambulatory males with Duchenne muscular dystrophy.
J Pediatr
; 163(6): 1759-1763.e1, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24103921
8.
Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin.
Med
; 4(4): 245-251.e3, 2023 04 14.
Article
in English
| MEDLINE | ID: mdl-36905929
9.
Quality and Safety Analysis of 2,999 Telemedicine Encounters During the COVID-19 Pandemic.
Neurol Clin Pract
; 11(2): e73-e82, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33842074
10.
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.
Arch Dis Child
; 105(4): 332-338, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31484632
11.
Reply: To PMID 23893312.
Muscle Nerve
; 50(3): 458-9, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24935909
12.
Health Care Transition Experiences of Males with Childhood-onset Duchenne and Becker Muscular Dystrophy: Findings from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) Health Care Transitions and Other Life Experiences Survey.
PLoS Curr
; 102018 Aug 21.
Article
in English
| MEDLINE | ID: mdl-30210936
13.
Outcomes of Colorado children with acute flaccid myelitis at 1 year.
Neurology
; 89(2): 129-137, 2017 Jul 11.
Article
in English
| MEDLINE | ID: mdl-28615421
14.
Clinical course of growth in patients with congenital neuromuscular disease in a single multidisciplinary neuromuscular clinic.
J Pediatr Rehabil Med
; 9(1): 13-21, 2016.
Article
in English
| MEDLINE | ID: mdl-26966796
15.
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
JAMA Neurol
; 72(6): 689-98, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25938801
16.
Consider muscle disease in children with elevated transaminase.
J Am Board Fam Med
; 25(4): 536-40, 2012.
Article
in English
| MEDLINE | ID: mdl-22773723
17.
Prospective cohort study of spinal muscular atrophy types 2 and 3.
Neurology
; 79(18): 1889-97, 2012 Oct 30.
Article
in English
| MEDLINE | ID: mdl-23077013
18.
Psoriatic arthritis-associated polyneuropathy: a report of three cases.
J Clin Neuromuscul Dis
; 9(1): 248-51, 2007 Sep.
Article
in English
| MEDLINE | ID: mdl-17989588
19.
Masturbation in infancy and early childhood presenting as a movement disorder: 12 cases and a review of the literature.
Pediatrics
; 116(6): 1427-32, 2005 Dec.
Article
in English
| MEDLINE | ID: mdl-16322167
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