P. Latour

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Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

F. Chapon, R. Carlier, A. Echaniz-Laguna, 2014 .

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

F. Sedel, P. Latour, H. Maurey, 2012, Orphanet Journal of Rare Diseases.

Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Philippe Latour, Marie T Vanier, P. Latour, 2015, Methods in cell biology.

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

F. Scaglia, J. Reiss, P. Latour, 2005, Human Genetics.

Sex–dependent rearrangements resulting in CMT1A and HNPP

A. Brice, N. Wood, N. Lévy, 1997, Nature Genetics.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

P. Latour, D. Cheillan, R. Froissart, 2017, PloS one.

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

Sachit Shah, J. Polke, M. Reilly, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

F. Chapon, R. Carlier, A. Echaniz-Laguna, 2014, Neurology.

Confounding clinical presentation and different disease progression in CMT4B1

P. Latour, T. Stojkovic, S. Léonard-Louis, 2020, Neuromuscular Disorders.

A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

A. Mégarbané, L. Santoro, Y. Parman, 2019, Annals of neurology.

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

E. Broussolle, S. Thobois, P. Latour, 2013, Journal of Neurology.

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders

N. Philip, N. Lévy, P. Latour, 2002, European Journal of Human Genetics.

Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication.

G. Chazot, N. Lévy, P. Latour, 2001, Clinical chemistry.

The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23.

D. Pham‐Dinh, G. Chazot, M. Mattei, 1993, Human molecular genetics.

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

P. Latour, A. Vandenberghe, S. Schaeffer, 1999, Journal of neurology, neurosurgery, and psychiatry.

Peripheral myelin modification in CMT1B correlates with MPZ gene mutations

G. L. Masson, P. Latour, I. Bernard, 1999, Neuromuscular Disorders.

Mutations in the myelin protein zero gene associated with Charcot‐Marie‐Tooth disease type 1B

C. van Broeckhoven, D. Pham‐Dinh, G. Chazot, 1995, Human mutation.

Terminal Latency Index (TLI) Abnormalities in Hereditary Neuropathy withLiability to Pressure Palsies (HNPP)

M. Giroud, C. Thauvin-Robinet, P. Latour, 2015 .

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

S. Züchner, L. Schaeffer, Alexander J Abrams, 2017, Acta Neuropathologica Communications.

CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS

T. Pan, P. Griffin, R. Horvath, 2021, Proceedings of the National Academy of Sciences.

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

E. Broussolle, L. Faivre, C. Thauvin-Robinet, 2010, American journal of human genetics.

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

C. Tilikete, F. Lamari, V. Deramecourt, 2018, Orphanet Journal of Rare Diseases.

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature

P. Latour, F. Sturtz, P. Derouault, 2019, Journal of the peripheral nervous system : JPNS.

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations

F. Salachas, J. Pouget, T. Maisonobe, 2017, Human mutation.

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene

D. Pham‐Dinh, P. Latour, F. Sturtz, 1996, Human Genetics.

A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies

P. Vermersch, P. Latour, T. Stojkovic, 2005, Neuromuscular Disorders.

Peripheral Nerve Biopsy Study in 19 Cases with 17p11.2 Deletion

P. Latour, X. Ferrer, A. Vital, 2004, Journal of neuropathology and experimental neurology.

Charcot‐Marie‐Tooth disease type 1A: clinicopathological correlations in 24 patients

P. Latour, X. Ferrer, A. Vital, 2005, Journal of the peripheral nervous system : JPNS.

Clinical and electrophysiological features in a French family presenting with seipinopathy

S. Mercier, T. Maisonobe, Y. Péréon, 2015, Neuromuscular Disorders.

A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

F. Tison, P. Latour, C. Goizet, 2012, Neuromuscular Disorders.

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

P. Vermersch, P. Latour, T. Stojkovic, 2004, Neuromuscular Disorders.

C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia

P. Latour, M. Sauvée, M. Formaglio, 2018, Dementia and Geriatric Cognitive Disorders.

Hereditary hemochromatosis and movement disorders: the still controversial relationship

E. Broussolle, S. Thobois, P. Latour, 2006, Journal of Neurology.

Asymmetrical polyneuropathy with a stepwise progressive course and well‐demarcated areas of demyelination

P. Latour, M. Barat, A. Vital, 1999, Muscle & nerve.

Charcot‐Marie‐Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein P0 gene

D. Pham‐Dinh, G. Chazot, P. Latour, 1995 .

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement

N. Lévy, A. Echaniz-Laguna, P. Latour, 2007, Neuromuscular Disorders.

SIMPLE mutation analysis in dominant demyelinating Charcot‐Marie‐Tooth disease: three novel mutations

C. Stoll, P. Latour, T. Stojkovic, 2006, Journal of the peripheral nervous system : JPNS.

Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies

G. Chazot, M. Upadhyaya, P. Latour, 2002, Journal of medical genetics.

WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon

R. Carlier, P. Latour, T. Stojkovic, 2018, neurogenetics.

Clinical, Electrophysiological and Genetic Studies of Two Families with Mutations in the GDAP1 Gene

P. Latour, J. Camdessanché, F. Prieur, 2008, Neuropediatrics.

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

P. Latour, S. Attarian, D. Adams, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion

L. Kremer, A. Verloes, A. Echaniz-Laguna, 2019, neurogenetics.

A cryptic splicing mutation in the INF2 gene causing Charcot‐Marie‐Tooth disease with minimal glomerular dysfunction

A. Echaniz-Laguna, P. Latour, 2019, Journal of the peripheral nervous system : JPNS.

U1 snRNA mis-binding: a new cause of CMT1B

D. Bozon, P. Latour, P. Labauge, 2010, neurogenetics.

Charcot–Marie–Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study

T. Maisonobe, A. Echaniz-Laguna, P. Latour, 2021, European journal of neurology.

Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.

F. Rivier, P. Latour, P. Cintas, 2022, Neuropediatrics.

Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene

P. Leblanc, P. Latour, S. Lumbroso, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

The Spectrum of Niemann-Pick Type C Disease in Greece.

D. Zafeiriou, P. Latour, D. Grinberg, 2017, JIMD reports.

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations

D. Bonneau, G. Lenaers, P. Reynier, 2016, Journal of the peripheral nervous system : JPNS.

Ultrastructural mitochondrial modifications characteristic of mitofusin 2 mutations (CMT2A)

M. Martin-Négrier, P. Latour, X. Ferrer, 2009, Journal of the peripheral nervous system : JPNS.

High intra-familiar clinical variability in MORC2 mutated CMT2 patients.

P. Latour, T. Stojkovic, S. Léonard-Louis, 2017, Brain : a journal of neurology.

Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot–Marie–Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE

P. Latour, A. Furby, K. Beauvais, 2006, Neuromuscular Disorders.

Histopathological features of X‐linked Charcot‐Marie‐Tooth disease in 8 patients from 6 families with different connexin32 mutations

K. Petry, P. Latour, C. Goizet, 2001, Journal of the peripheral nervous system : JPNS.

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

P. Latour, T. Stojkovic, N. Lacoste, 2022, Human mutation.

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: Clinical and pathological findings

P. Vermersch, P. Latour, T. Stojkovic, 2008, Neuromuscular Disorders.

Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

C. Gieger, A. Peters, S. Lorenzl, 2013, PloS one.

Strategy for genetic analysis in hereditary neuropathy.

P. Latour, T. Stojkovic, S. Léonard-Louis, 2022, Revue neurologique.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C

P. Bauer, M. Patterson, M. Strupp, 2017, Neurology. Clinical practice.

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

P. Latour, D. Cheillan, R. Froissart, 2018, Journal of Inherited Metabolic Disease.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

L. Pasquier, P. Latour, J. Andrieux, 2009, European journal of medical genetics.

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

X. Estivill, E. Mariman, N. Archidiacono, 1996, European journal of human genetics : EJHG.

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

M. Ruberg, A. Brice, N. Lévy, 1998, Human molecular genetics.

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

P. Latour, G. Lina-Granade, H. Plauchu, 2000, Journal of medical genetics.

Alternative exon 3 splicing of the human major protein zero gene in white blood cells and peripheral nerve tissue

P. Latour, L. Konecny, P. Petiot, 1999, FEBS letters.

Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene

P. Latour, X. Ferrer, A. Vital, 2001, Journal of neurology, neurosurgery, and psychiatry.

A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression

P. Guiheneuc, Y. Péréon, P. Latour, 2008, Muscle & nerve.

Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion

L. Richard, J. Vallat, P. Latour, 2016, Neuromuscular Disorders.

Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.

G. Chazot, J. Pouget, P. Latour, 1996, Clinical chemistry.

Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

P. Vermersch, P. Latour, T. Stojkovic, 1999, Neurology.

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

P. Bauer, P. Latour, C. Hendriksz, 2016, Molecular genetics and metabolism.

Peripheral Myelin Protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A disease

L. Richard, J. Vallat, P. Latour, 2014, Neuromuscular Disorders.

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

N. Lévy, P. Latour, T. Stojkovic, 2022, Clinical genetics.

Phenotypic spectrum of Charcot−Marie−Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients

T. Maisonobe, P. Bouche, O. Dubourg, 2017, European journal of neurology.

A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

M. Cossée, N. Lévy, P. Latour, 2022, Genes.

Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population

G. Chazot, J. Pouget, N. Lévy, 1997, Neurogenetics.

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

F. Bombelli, A. Brice, P. Amati‐Bonneau, 2014, JAMA neurology.

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

M. Zeviani, D. Bozon, A. Echaniz-Laguna, 2013, Neurology.

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

P. Latour, T. Stojkovic, C. Goizet, 2019, European Journal of Human Genetics.

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

P. Latour, T. Stojkovic, C. Goizet, 2019, European Journal of Human Genetics.

Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations

S. Züchner, A. Kochański, P. Latour, 2020, European journal of neurology.

Relapsing demyelinating disease affecting both the central and peripheral nervous systems

P. Vermersch, P. Latour, T. Stojkovic, 2008, Journal of Neurology Neurosurgery & Psychiatry.

Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease.

G. Chazot, P. Latour, F. Sturtz, 1997, European neurology.

Abnormal dopamine transporter imaging in adult-onset Niemann-Pick disease type C.

K. Van Laere, P. Latour, W. Vandenberghe, 2017, Parkinsonism & related disorders.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Antineoplastic agents exacerbating Charcot Marie Tooth disease: red flags to avoid permanent disability

M. Sanson, T. Maisonobe, P. Latour, 2017, Acta oncologica.

Chronic inflammatory demyelinating polyneuropathy caused by HIV infection in a patient with asymptomatic CMT 1A

P. Latour, X. Ferrer, A. Vital, 2000, Journal of the peripheral nervous system : JPNS.

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

S. Züchner, L. Schaeffer, Alexander J Abrams, 2017, Acta neuropathologica communications.

Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis?

T. Maisonobe, P. Latour, T. Stojkovic, 2022, Journal of Neurology.

New mutations in the X-linked form of Charcot-Marie-Tooth disease.

D. Pham‐Dinh, G. Chazot, P. Calvas, 1997, European neurology.

Charcot‐Marie‐Tooth type 1B neuropathy: A mutation at the single glycosylation site in the major peripheral myelin glycoprotein P0

D. Pham‐Dinh, G. Chazot, F. Chapon, 1996 .

Inflammatory demyelination in a patient with CMT1A

K. Petry, P. Latour, X. Ferrer, 2003, Muscle & nerve.

Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.

A. Echaniz-Laguna, Y. Péréon, P. Latour, 2023, European journal of neurology.

New MORC2 gene mutations are associated with distinctive features: from axonal neuropathy to late adult-onset spinal muscular atrophy like phenotype

P. Latour, T. Stojkovic, A. Nadaj-Pakleza, 2022 .

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion

L. Kremer, A. Verloes, A. Echaniz-Laguna, 2019, neurogenetics.

[Multiple phenotypic manifestations of X-linked spinobulbar muscular atrophy].

E. Broussolle, P. Latour, P. Gonnaud, 2009, Revue neurologique.

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report

L. Vallée, P. Latour, A. Trauffler, 2016, Journal of Medical Case Reports.

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

N. le Forestier, M. Reilly, A. Echaniz-Laguna, 2023, Neurology: Genetics.

P. Latour, T. Stojkovic, A. Nadaj-Pakleza, 2023, European journal of neurology.

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study

P. Latour, T. Levade, A. Brassier, 2017, Orphanet Journal of Rare Diseases.

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

P. Latour, T. Stojkovic, S. Allouche, 2022, Brain : a journal of neurology.

Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.

D. Pham‐Dinh, G. Chazot, F. Chapon, 1996, Human mutation.

A Rsal RFLP at the human myelin protein zero (MPZ) locus

P. Latour, M. Boucherat, A. Vandenberghe, 1994, Clinical Genetics.

Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.

D. Pham‐Dinh, G. Chazot, P. Latour, 1995, Clinical Genetics.

In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.

E. Colin, D. Bonneau, P. Latour, 2015, JIMD reports.

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.

P. Latour, T. Stojkovic, F. Bouhour, 2023, European journal of human genetics : EJHG.

Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

P. Latour, S. Attarian, D. Adams, 2016, Journal of Neurology, Neurosurgery & Psychiatry.