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186 results on '"Laforet, Pascal"'

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152. POM-001 phase 1/2 study of BMN 701, GILT-tagged recombinant human (rh) GAA in late-onset Pompe disease: Initial experience in 22 patients

156. Clinical features of late-onset Pompe disease: A prospective cohort study

159. Non Random Distribution of DMDDeletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

160. Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies

162. Erratum to ‘Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia’ [Neuromuscular Disorders 19 (2009) 316–323]

167. Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.

168. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

170. Congenital myopathies are mainly associated with a mild cardiac phenotype.

171. FSHD1 and FSHD2 form a disease continuum.

172. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

173. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

174. Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies).

175. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

176. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

177. Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

178. Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

179. The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

180. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

181. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.

182. Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

183. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.

184. Muscle MRI findings in limb girdle muscular dystrophy type 2L.

185. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.

186. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.

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