89 results on '"Juntas-Morales, Raul"'
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52. Une approche clinico-biologique intégrée pour interpréter la pathogénicité des variants du gène de la titine
53. Low 25OH Vitamin D Blood Levels Are Independently Associated With Higher Amyotrophic Lateral Sclerosis Severity Scores: Results From a Prospective Study
54. Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort
55. A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
56. ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
57. Implanted Phrenic Stimulation Impairs Local Diaphragm Myofiber Reinnervation in Amyotrophic Lateral Sclerosis
58. Dramatic Weight Loss with Levetiracetam
59. Charcot-Marie-Tooth disease type 2CC due to NEFHvariants causes a progressive, non-length-dependent, motor-predominant phenotype
60. Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease.
61. Corrélations phénotype-génotype dans les titinopathies
62. Les répétitions intermédiaires GGGGCC du gène C9ORF72 ne sont pas un facteur de risque de SLA
63. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
64. MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis
65. A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes
66. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy
67. Next generation sequencing of a large panel of genes is efficient for diagnosis of children with myopathies and muscular dystrophies, especially for early and / or atypical cases
68. IMMUNO-MODULATION IN AMYOTROPHIC LATERAL SCLEROSIS - A PHASE II STUDY OF SAFETY AND ACTIVITY OF LOW DOSE INTERLEUKIN-2 (IMODALS study) (S3.006)
69. Safety and efficacy of ozanezumab in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled, phase 2 trial
70. Liver X Receptor Genes Variants Modulate ALS Phenotype
71. Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations
72. The Use of Peripherally Inserted Central Catheter in Amyotrophic Lateral Sclerosis Patients at a Later Stage
73. Bent spine syndrome as the initial symptom of late-onset Pompe disease
74. Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation
75. Progression of stroke-like lesions along the cortico-ponto-cerebellar tract
76. LRSAM1variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
77. Environnement et sclérose latérale amyotrophique
78. Autosomal Recessive Inheritance of Congenital Myasthenic Syndrome is Associated with Skeletal Muscle Sodium Channel Mutations
79. Etude de la réactivité émotionnelle chez des patients atteints de sclérose latérale amyotrophique
80. Bent spine syndrome as the initial symptom of late-onset Pompe disease.
81. The Use of Peripherally Inserted Central Catheter in Amyotrophic Lateral Sclerosis Patients at a Later Stage.
82. Facteurs environnementaux dans la SLA
83. Vitamin D Is A Prognostic Factor Of Amyotrophic Lateral Sclerosis And Confers Protection To Motoneurons In Vitro (P4.084)
84. Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction
85. Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.
86. FHL1 is a key player of chikungunya virus tropism and pathogenesis.
87. Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
88. Searching for a link between the L-BMAA neurotoxin and amyotrophic lateral sclerosis: a study protocol of the French BMAALS programme.
89. [Environmental factors in ALS].
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