358 results on '"Laforet, Pascal"'
Search Results
52. Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles
53. Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations
54. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns
55. Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
56. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
57. Determinants of diaphragm inspiratory motion, diaphragm thickening and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy
58. Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges
59. Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity
60. Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy
61. 162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28–30 November 2008, Bussum, The Netherlands
62. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
63. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience
64. Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: A case control study
65. Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia
66. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
67. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia
68. Nutritional status, swallowing disorders, and respiratory prognosis in adult Duchenne muscular dystrophy patients
69. Cas clinique 4 – France
70. Macroglossie chez les patients atteints de la maladie de Pompe de forme tardive : présentation de 5 cas
71. Registre français de la maladie de Pompe : une cohorte de 210 patients adultes
72. Muscle cells of sporadic ALS patients secrete neurotoxic vesicles
73. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
74. 254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022
75. Nutritional status, swallowing disorders and respiratory prognosis in adult Duchenne muscular dystrophy patients
76. Caractéristiques des fonctions motrices des adultes atteints de la forme tardive de la maladie de Pompe (systématique scoping review)
77. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
78. Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy.
79. Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation
80. Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques
81. Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations
82. Improvements in the definition of biomarkers for Spinal Muscular Atrophy (SMA) type III and IV: a multimodal longitudinal study. (2321)
83. A Randomized Study of Alglucosidase Alfa in Late-Onset Pompeʼs Disease
84. Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation
85. The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization
86. Variable Pathogenic Potentials of Mutations Located in the Desmin Alpha-Helical Domain
87. Clinical study of chronic pain in hereditary myopathies
88. Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing.
89. Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis
90. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
91. Progress and challenges of gene therapy for Pompe disease
92. Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders
93. Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis
94. Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood
95. Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy
96. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
97. Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients
98. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data
99. 251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands
100. Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1
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