358 results on '"Laforet, Pascal"'
Search Results
102. Additional file 3: of A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
103. Additional file 2: of A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
104. Spectre phénotypique des myopathies avec mutation de l’Anoctamin-5
105. Cas d’une émerinopathie tardive et peu rétractile : phénotype clinique et radiologique
106. Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study
107. Genotype and other determinants of respiratory function in myotonic dystrophy type 1
108. Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression
109. Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders
110. Rhabdomyolyse et acidose lactique sévères secondaires à une mutation FDXL1
111. Un cas rare d’amylose AL systémique avec atteinte musculaire : un diagnostic trompeur
112. 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France
113. Long-Term Efficacy of Alglucosidase Alfa in Late-Onset Pompe Disease (P1.120)
114. Long-term efficacy of alglucosidase alfa in late-onset Pompe disease
115. Risk of developing a mitochondrial DNA deletion disorder
116. Diagnostic d’un pseudo-botulisme chez un patient atteint d’une amyotrophie spinale
117. Efficacité du daratumumab dans le traitement d’une amylose musculaire réfractaire
118. Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies
119. Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms
120. Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D
121. Phase 1 Exploratory Efficacy of the Novel Enzyme Replacement Therapy NeoGAA in Treatment-Naïve and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients (S38.006)
122. Phase 1 Safety and Pharmacokinetics of the Novel Enzyme Replacement Therapy neoGAA in Treatment-Naïve and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients (S38.005)
123. Phase 1 Exploratory Efficacy of the Novel Enzyme Replacement Therapy NeoGAA in Treatment-Naïve and Alglucosidase Alfa-Treated Late-Onset Pompe Disease Patients (I4.011)
124. Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
125. Phase 1 safety and pharmacokinetics of the novel enzyme replacement therapy neoGAA in treatment-naïve and alglucosidase alfa-treated late-onset Pompe disease patients
126. Phase 1 exploratory efficacy of the novel enzyme replacement therapy neoGAA in treatment-naïve and alglucosidase alfa-treated late-onset Pompe disease patients
127. 0224: Cardiac involvement in glycogen storage disease type III
128. 0454: Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases
129. 0460: Right heart involvement in patients with laminopathies
130. 0457: Atrial flutter in myotonic dystrophy type 1: patient characteristics and clinical outcome
131. Rhabdomyolyses en rapport avec des déficits de la bêta-oxydation. Apport du séquençage haut débit sur panels dédiés
132. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
133. SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france
134. 0370 : Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases
135. Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases
136. Analysis of the DYSF mutational spectrum in a large cohort of patients
137. 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France
138. Rigid spine syndrome revealing late-onset Pompe disease
139. Asymptomatic Pompe Disease: A Study of 6 Patients. (P3.296)
140. A Diagnostic Flowchart For POLG Related Diseases Based On Signs Sensitivity And Specificity (P3.299)
141. Preliminary clinical efficacy and safety of BMN 701, GILT-tagged recombinant human acid alpha glucosidase (rhGAA), in late-onset Pompe disease: results of an extension study
142. Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study
143. Épidémiologie de la myasthénie auto-immune en France – l’étude STAMINA, une analyse rétrospective du Système National de Données de Santé (SNDS)
144. Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: A multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial
145. Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease
146. Limb-Girdle Muscular Dystrophy Type 2E: Clinical, Genetic and Histopathological Features of 27 European Patients (P07.031)
147. Life-Threatening Lactic Acidosis Occuring in Adults with Rare Mutations of mtDNA: About Three Cases (P07.022)
148. 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
149. Fat and carbohydrate metabolism during exercise in late-onset Pompe disease
150. Impaired myocardial deformation detected by speckle-tracking echocardiography in patients with myotonic dystrophy type 1
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