830 results on '"Flanigan, Kevin"'
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152. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
153. Early signs of gross motor delay in very young boys with Duchenne muscular dystrophy (P1.6-068)
154. Clinically meaningful change on the 100 meter timed test in neuromuscular diseases (S33.003)
155. Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet
156. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
157. 146 - Duchenne and Becker Muscular Dystrophies
158. eP214 - Updated results of Transpher B: multicenter, single-dose, phase 1/2 clinical trial of ABO-101 for Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
159. eP203 - Updated results of Transpher A: multicenter, single-dose, phase 1/2 clinical trial of ABO-102 for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)
160. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic
161. Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
162. Duchenne muscular dystrophy: meeting the therapeutic challenge
163. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis
164. Low‐level expression of EPG5 leads to an attenuated Vici syndrome phenotype
165. More than just fun and games: ACTIVE Workspace volume video game quantifies upper extremity function in individuals with neuromuscular disease (S31.004)
166. Clinico-pathological Conference: A hypotonic newborn with cleft palate, micrognathia and bilateral club feet
167. Association Study of Exon Variants in the NF-kappa B and TGF beta Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
168. Low-level dystrophin expression attenuating the dystrophinopathy phenotype
169. Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis
170. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy
171. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
172. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
173. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy
174. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach
175. Low-Level Dystrophin Expression Attenuating the Dystrophinopathy Phenotype
176. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
177. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
178. Clinical Phenotypes of DMDExon 51 Skip Equivalent Deletions: A Systematic Review
179. Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia.
180. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
181. Twice‐weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.
182. Dystrophin as a therapeutic biomarker: Are we ignoring data from the past?
183. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45
184. Outcome Reliability in Non Ambulatory Boys/Men with Duchenne Muscular Dystrophy
185. Additional file 7: Figure S3. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
186. Additional file 4: Figure S6. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
187. Additional file 9: Figure S7. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
188. Additional file 6: Figure S2. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
189. Additional file 3: Figure S5. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
190. Additional file 5: Figure S1. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
191. Additional file 8: Figure S4. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
192. Additional file 2: Table S2. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
193. Additional file 1: Table S1. of Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
194. General anesthesia with a native airway for patients with mucopolysaccharidosis type III
195. Systemic gene transfer of scAAV9.U1a.hSGSH for MPS IIIA: tolerability and preliminary evidence for a biochemical effect
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198. Modeling functional decline over time in sporadic inclusion body myositis
199. Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
200. Reassessing carrier status for dystrophinopathies
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