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Philippe Latour

Explore the profile of Philippe Latour including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 72
Citations 1090
Followers 0
Related Specialties
Neurology
Genetics
General Medicine
Top 10 Co-Authors
Tanya Stojkovic
Andoni Echaniz-Laguna
Guilhem Sole
Marie T Vanier
Francoise Bouhour
Shahram Attarian
Jean-Baptiste Chanson
Antoine Pegat
Sarah Leonard-Louis
Laurent Magy
Published In
Neuromuscul Disord
J Peripher Nerv Syst
Eur J Neurol
Eur J Hum Genet
Neurogenetics
Affiliations
Soon will be listed here.
Recent Articles
1.
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study
Barbat du Closel L, Bonello-Palot N, Delmont E, Pereon Y, Echaniz-Laguna A, Camdessanche J, et al.
Eur J Neurol . 2024 Nov; 32(1):e16523. PMID: 39569692
Background And Purpose: X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) ranks as the second most prevalent hereditary neuropathy and, currently, has no definitive cure. Emerging preclinical trials offer hope for potential...
2.
Severe Respiratory and Swallowing Disorders in Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease Type 1: Two Cases
Berling E, Latour P, Loiselet K, Guemy C, Vidoni L, Romero N, et al.
Neurol Genet . 2024 Aug; 10(5):e200178. PMID: 39176129
Objectives: The objective of this study was to expand the phenotypic spectrum of infantile-onset multisystem neurologic, endocrine, and pancreatic disease type 1 (IMNEPD1) and highlight the importance of analyzing the...
3.
Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy
Pegat A, Chanson J, Lozeron P, Joubert B, Bani-Sadr A, Quadrio I, et al.
J Neuroimmunol . 2024 Jun; 392:578381. PMID: 38823119
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare immune-mediated neuropathy for which there is no clearly identified risk factor. The present study identified rare variants in the FBXO38 gene in...
4.
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family
Theuriet J, Marte S, Isapof A, de Becdelievre A, Konyukh M, Laureano-Figueroa S, et al.
J Peripher Nerv Syst . 2024 May; 29(2):275-278. PMID: 38769024
Background And Aims: Pathogenic variants in the NARS1 gene, which encodes for the asparaginyl-tRNA synthetase1 (NARS1) enzyme, were associated with complex central and peripheral nervous system phenotypes. Recently, Charcot-Marie-Tooth (CMT)...
5.
The 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
Ceprian M, Juntas-Morales R, Campbell G, Walther-Louvier U, Rivier F, Camu W, et al.
Int J Mol Sci . 2024 Apr; 25(8). PMID: 38673950
Demyelinating Charcot-Marie-Tooth 4G (CMT4G) results from a recessive mutation in the 5'UTR region of the Hexokinase 1 (HK1) gene. HK participates in mitochondrial calcium homeostasis by binding to the Voltage-Dependent...
6.
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Freihuber C, Dahmani-Rabehi B, Brassier A, Broue P, Cances C, Chabrol B, et al.
Orphanet J Rare Dis . 2023 Jul; 18(1):204. PMID: 37480097
Background: Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurodegeneration and premature death. While miglustat can stabilize neurological manifestations in later onset...
7.
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
Fernandez-Eulate G, Theuriet J, Record C, Querin G, Masingue M, Leonard-Louis S, et al.
Neurol Genet . 2023 Jul; 9(4):e200087. PMID: 37470033
Background And Objectives: Spinal muscular atrophy (SMA) is mainly caused by homozygous gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS)...
8.
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
Theuriet J, Fernandez-Eulate G, Latour P, Stojkovic T, Masingue M, Vidoni L, et al.
Eur J Hum Genet . 2023 Jun; 32(1):37-43. PMID: 37337091
Proximal spinal muscular atrophy (SMA) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly in the proximal lower limbs. While most patients carry a...
9.
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease
Barbat du Closel L, Bonello-Palot N, Pereon Y, Echaniz-Laguna A, Camdessanche J, Nadaj-Pakleza A, et al.
Eur J Neurol . 2023 Jun; 30(10):3265-3276. PMID: 37335503
Background: X-Linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by gender differences in clinical severity. Women are usually clinically affected later and less severely than men. However, their clinical presentation...
10.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages
Pons N, Fernandez-Eulate G, Pegat A, Theaudin M, Guieu R, Ripellino P, et al.
Eur J Neurol . 2023 Mar; 30(7):2001-2011. PMID: 36943151
Background And Purpose: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal...