P
Philippe Latour
Researcher at HCL Technologies
Publications - 100
Citations - 2485
Philippe Latour is an academic researcher from HCL Technologies. The author has contributed to research in topics: Gene & Medicine. The author has an hindex of 29, co-authored 84 publications receiving 2141 citations. Previous affiliations of Philippe Latour include Claude Bernard University Lyon 1.
Papers
More filters
Journal ArticleDOI
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
TL;DR: A French family had Charcot-Marie-Tooth disease type 2 (CMT2), characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness, which found a mutation in codon 124 resulting in substitution of threonine by methionine.
Journal ArticleDOI
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Marie T. Vanier,Paul Gissen,Paul Gissen,Peter Bauer,Maria Josep Coll,Alberto Burlina,Christian J. Hendriksz,Christian J. Hendriksz,Philippe Latour,Cyril Goizet,Richard W. D. Welford,Thorsten Marquardt,Stefan A. Kolb +12 more
TL;DR: Advances in mass spectrometry has allowed identification of several sensitive plasma biomarkers elevated in NP-C, which, together with the concomitant progress in molecular genetic technology, have greatly impacted the strategy of laboratory testing.
Journal ArticleDOI
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
Marc C. Patterson,Peter E. Clayton,Paul Gissen,Mathieu Anheim,Peter Bauer,Olivier Bonnot,Andrea Dardis,Carlo Dionisi-Vici,Hans H. Klünemann,Philippe Latour,Charles Marques Lourenço,Daniel S. Ory,Alasdair Parker,Miguel Pocovi,Michael Strupp,Marie T. Vanier,Mark Walterfang,Thorsten Marquardt +17 more
TL;DR: This publication provides expert recommendations for clinicians who may see patients presenting with the signs and symptoms of NP-C, including general practitioners, pediatricians, neurologists, and psychiatrists, and on screening within specific at-risk patient cohorts.
Book ChapterDOI
Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test
Marie T. Vanier,Philippe Latour +1 more
TL;DR: Methodological caveats and variability of patterns encountered in patients with proven Niemann-Pick C disease (typical "classic" or "intermediate," atypical "variant") are described, leading to a proposed algorithm for interpretation of results in the filipin test.
Journal ArticleDOI
Charcot-Marie-Tooth Disease Type 2A: From Typical to Rare Phenotypic and Genotypic Features
Francesco Bombelli,Tanya Stojkovic,Odile Dubourg,Andoni Echaniz-Laguna,S. Tardieu,Kathy Larcher,Patrizia Amati-Bonneau,Philippe Latour,Odile Vignal,Cécile Cazeneuve,Alexis Brice,Alexis Brice,Eric LeGuern,Eric LeGuern +13 more
TL;DR: The clinical, molecular, electrophysiological, and additional features of 43 patients with CMT2A are described to delineate prognostic factors, to understand connections between a certain phenotype and more serious clinical consequences, and to identify interactions among the associated genes.