353 results on '"Latour, Philippe"'
Search Results
2. Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
3. Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis?
4. Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy
5. CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS
6. The Hexokinase 1 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering
7. Corrélation phénotype-génotype dans la maladie de Charcot-Marie-Tooth liée à l’X : une étude de cohorte française
8. A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
9. Dual Approaches for Elliptic Hough Transform: Eccentricity/Orientation vs Center Based
10. Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion
11. Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
12. The Spectrum of Niemann-Pick Type C Disease in Greece
13. LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
14. Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease
15. Dual Approaches for Elliptic Hough Transform: Eccentricity/Orientation vs Center Based
16. Time Ordering Shuffling for Improving Background Subtraction
17. Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
18. WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon
19. Effects of miglustat therapy on neurological disorder and survival in early- infantile Niemann-Pick disease type C: a national French retrospective study
20. Caractéristiques cliniques et électrophysiologiques des femmes atteintes de la maladie de Charcot-Marie-Tooth liée à l’X
21. SORD‐related peripheral neuropathy in a French and Swiss cohort: clinical features, genetic analysis and sorbitol dosage.
22. Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families
23. Overview of Niemann-Pick type C disease in France 1975–2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations
24. Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
25. Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy
26. Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis?
27. Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy
28. HINT1 neuropathy: Expanding the genotype and phenotype spectrum
29. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
30. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
31. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
32. A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations
33. Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population
34. New MORC2 gene mutations are associated with distinctive features: from axonal neuropathy to late adult-onset spinal muscular atrophy like phenotype
35. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
36. Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene
37. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease
38. Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test
39. Time Ordering Shuffling for Improving Background Subtraction
40. Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
41. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
42. Charcot–Marie–Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study
43. Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
44. U1 snRNA mis-binding: a new cause of CMT1B
45. A major determinant for binding and aminoacylation of tRNA in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease
46. Charcot-Marie-Tooth Disease Type 2A: From Typical to Rare Phenotypic and Genotypic Features
47. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects
48. Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
49. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
50. Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase
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