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[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].

Perrin A, Latour P, Procaccio V, Jardel C, Cérino M, Bonne G, Salort-Campana E, Urtizberea JA, Pouget J, Krahn M, Cossée M.

Med Sci (Paris). 2018 Nov;34 Hors série n°2:20-22. doi: 10.1051/medsci/201834s206. Epub 2018 Nov 12. French. No abstract available.


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

Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B.

Orphanet J Rare Dis. 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4.


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

Fourier A, Formaglio M, Sauvée M, Perret-Liaudet A, Latour P, Bost M, Quadrio I.

Dement Geriatr Cogn Disord. 2018;46(3-4):180-185. doi: 10.1159/000492963. Epub 2018 Sep 27.


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

Piraud M, Pettazzoni M, Lavoie P, Ruet S, Pagan C, Cheillan D, Latour P, Vianey-Saban C, Auray-Blais C, Froissart R.

J Inherit Metab Dis. 2018 May;41(3):457-477. doi: 10.1007/s10545-017-0126-3. Epub 2018 Mar 19.


Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.


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

Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T.

Neurogenetics. 2018 May;19(2):67-76. doi: 10.1007/s10048-018-0539-7. Epub 2018 Feb 2.


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

Ibañez-Juliá MJ, Berzero G, Reyes-Botero G, Maisonobe T, Lenglet T, Slim M, Louis S, Balaguer A, Sanson M, Le Guern E, Latour P, Ricard D, Stojkovic T, Psimaras D.

Acta Oncol. 2018 Mar;57(3):403-411. doi: 10.1080/0284186X.2017.1415462. Epub 2017 Dec 15.


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.

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.

PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.


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

Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, Latour P.

Acta Neuropathol Commun. 2017 Jul 14;5(1):55. doi: 10.1186/s40478-017-0457-1.


Null EPAC mutants reveal a sequential order of versatile cAMP effects during Drosophila aversive odor learning.

Richlitzki A, Latour P, Schwärzel M.

Learn Mem. 2017 Apr 17;24(5):210-215. doi: 10.1101/lm.043646.116. Print 2017 May.


[How I explore … Crohn's disease by various imaging modalities].

Desir C, Coimbra C, Decker M, Reenaers C, Van Kemseke C, Latour P, Louis E, Meunier P.

Rev Med Liege. 2017 Jan;72(1):51-56. French.


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

Semplicini C, Ollagnon-Roman E, Leonard-Louis S, Piguet-Lacroix G, Silvestre M, Latour P, Stojkovic T.

Brain. 2017 Apr 1;140(4):e21. doi: 10.1093/brain/awx019. No abstract available.


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

Guimarães-Costa R, Iancu Ferfoglia R, Leonard-Louis S, Ziegler F, Magy L, Fournier E, Dubourg O, Bouche P, Maisonobe T, Lacour A, Moerman A, Latour P, Stojkovic T.

Eur J Neurol. 2017 Mar;24(3):530-538. doi: 10.1111/ene.13239.


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

Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T.

Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25.


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

Mavridou I, Dimitriou E, Vanier MT, Vilageliu L, Grinberg D, Latour P, Xaidara A, Lycopoulou L, Bostantjopoulou S, Zafeiriou D, Michelakakis H.

JIMD Rep. 2017;36:41-48. doi: 10.1007/8904_2016_41. Epub 2017 Jan 20.


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

Terbeek J, Latour P, Van Laere K, Vandenberghe W.

Parkinsonism Relat Disord. 2017 Mar;36:107-108. doi: 10.1016/j.parkreldis.2016.12.029. Epub 2017 Jan 3. No abstract available.


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

Codron P, Chevrollier A, Kane MS, Echaniz-Laguna A, Latour P, Reynier P, Bonneau D, Verny C, Procaccio V, Lenaers G, Cassereau J.

J Peripher Nerv Syst. 2016 Dec;21(4):365-369. doi: 10.1111/jns.12192.


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

Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA.

Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Review.


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

Jouaud M, Gonnaud PM, Richard L, Latour P, Ollagnon-Roman E, Sturtz F, Mathis S, Magy L, Vallat JM.

Neuromuscul Disord. 2016 Apr-May;26(4-5):316-21. doi: 10.1016/j.nmd.2016.01.004. Epub 2016 Apr 5.


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

Rajabally YA, Adams D, Latour P, Attarian S.

J Neurol Neurosurg Psychiatry. 2016 Oct;87(10):1051-60. doi: 10.1136/jnnp-2015-310835. Epub 2016 Mar 23. Review.


Long-term evolution and predictive factors of mild inflammatory bowel disease.

Reenaers C, Pirard C, Vankemseke C, Latour P, Belaiche J, Louis E.

Scand J Gastroenterol. 2016;51(6):712-9. doi: 10.3109/00365521.2015.1128965. Epub 2016 Jan 27.


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

Colin E, Barth M, Boussion F, Latour P, Piguet-Lacroix G, Guichet A, Ziegler A, Triau S, Loisel D, Sentilhes L, Bonneau D.

JIMD Rep. 2016;28:105-110. Epub 2015 Nov 14.


Persisting signs of disease activity at Magnetic Resonance Enterocolonography predict clinical relapse and disease progression in quiescent Crohn's disease.

Meunier P, Cousin F, Van Kemseke C, Reenaers C, Latour P, Belaiche J, Seidel L, Louis E.

Acta Gastroenterol Belg. 2015 Jul-Sep;78(3):274-81.



Louis E, Reenaers C, Van Kemseke C, Latour P, Belaiche J, Meunier P, Coïmbra C.

Rev Med Liege. 2015 May-Jun;70(5-6):316-20. Review. French.


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

Vanier MT, Latour P.

Methods Cell Biol. 2015;126:357-75. doi: 10.1016/bs.mcb.2014.10.028. Epub 2015 Jan 14.


Author response.

Echaniz-Laguna A, Latour P.

Neurology. 2014 Nov 18;83(21):1991. No abstract available.


Clinical and electrophysiological features in a French family presenting with seipinopathy.

Ollivier Y, Magot A, Latour P, Perrier J, Mercier S, Maisonobe T, Péréon Y.

Neuromuscul Disord. 2015 Feb;25(2):161-4. doi: 10.1016/j.nmd.2014.10.006. Epub 2014 Oct 22.


Understanding differences in access to water fountains and sugar-sweetened beverages in children׳s environments: a pilot study in high and low deprivation neighbourhoods.

Pearson AL, de Latour P, Kemp G, Findlay N, Halim A, Atkinson N, Chong M, Cameron R, Brown C, Kim G, Campbell P, Hills T, Jayawant A, Chae M, Bhagavan C, French C, Jenkin G, Smith M, Signal L.

Health Place. 2014 Nov;30:94-7. doi: 10.1016/j.healthplace.2014.08.013. Epub 2014 Sep 19.


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

Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E.

JAMA Neurol. 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. Review.


Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.

Mathis S, Corcia P, Tazir M, Camu W, Magdelaine C, Latour P, Biberon J, Guennoc AM, Richard L, Magy L, Funalot B, Vallat JM.

Neuromuscul Disord. 2014 Jun;24(6):524-8. doi: 10.1016/j.nmd.2014.03.014. Epub 2014 Apr 13.


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

Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Péréon Y, Chapon F, Thauvin-Robinet C, Laforêt P, Eymard B, Latour P, Stojkovic T.

Neurology. 2014 May 27;82(21):1919-26. doi: 10.1212/WNL.0000000000000450. Epub 2014 Apr 30.


Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

Zech M, Nübling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Lichtner P, Peters A, Gieger C, Marquardt T, Vanier MT, Latour P, Klünemann H, Trenkwalder C, Diehl-Schmid J, Perneczky R, Meitinger T, Oexle K, Haslinger B, Lorenzl S, Winkelmann J.

PLoS One. 2013 Dec 30;8(12):e82879. doi: 10.1371/journal.pone.0082879. eCollection 2013.


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

Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.

Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.


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

Anheim M, Lagha-Boukbiza O, Fleury-Lesaunier MC, Valenti-Hirsch MP, Hirsch E, Gervais-Bernard H, Broussolle E, Thobois S, Vanier MT, Latour P, Tranchant C.

J Neurol. 2014 Jan;261(1):174-9. doi: 10.1007/s00415-013-7159-9. Epub 2013 Nov 1.


SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B.

Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11.


[Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].

Renouil M, Stojkovic T, Jacquemont ML, Lauret K, Boué P, Fourmaintraux A, Randrianaivo H, Tallot M, Mignard D, Roelens P, Tabailloux D, Bernard R, Cartault F, Chane-Thien E, Dubourg O, Ferrer X, Sole G, Fournier E, Latour P, Lacour A, Mignard C.

Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):603-12. doi: 10.1016/j.neurol.2013.07.004. Epub 2013 Sep 5. French.


Induction of multi-functional T cells in a phase I clinical trial of dendritic cell immunotherapy in hepatitis C virus infected individuals.

Li S, Roberts S, Plebanski M, Gouillou M, Spelman T, Latour P, Jackson D, Brown L, Sparrow RL, Prince HM, Hart D, Loveland BE, Gowans EJ.

PLoS One. 2012;7(8):e39368. doi: 10.1371/journal.pone.0039368. Epub 2012 Aug 14.


[Genetics and environment in chronic inflammatory bowel diseases].

Louis E, Van Kemseke C, Latour P, Belaiche J, Reenaers C.

Rev Med Liege. 2012 May-Jun;67(5-6):298-304. Review. French.


[Fifteen years of use of anti-TNF antibodies in moderate to severe Crohn's disease: how to make the best of this experience].

Louis E, Reenaers C, Meuwis MA, Van Kemseke C, Latour P, Chapelier N, Wertz S, Coïmbra C, Meunier P, Belaiche J.

Rev Med Liege. 2012;67 Spec No:8-13. French.


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

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.


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

Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C.

Neuromuscul Disord. 2012 Aug;22(8):735-41. doi: 10.1016/j.nmd.2012.04.001. Epub 2012 Apr 28.


[Non-fortuitous dynamin II mutation-related association: neutropenia and Charcot-Marie-Tooth disease].

Saint-Lézer A, Solé G, Ribeiro E, Latour P, Mercié P, Longy-Boursier M.

Rev Neurol (Paris). 2012 Apr;168(4):367-70. doi: 10.1016/j.neurol.2011.09.010. Epub 2012 Mar 3. French.


A phase I clinical trial of dendritic cell immunotherapy in HCV-infected individuals.

Gowans EJ, Roberts S, Jones K, Dinatale I, Latour PA, Chua B, Eriksson EM, Chin R, Li S, Wall DM, Sparrow RL, Moloney J, Loudovaris M, Ffrench R, Prince HM, Hart D, Zeng W, Torresi J, Brown LE, Jackson DC.

J Hepatol. 2010 Oct;53(4):599-607. doi: 10.1016/j.jhep.2010.05.007. Epub 2010 Jun 20.


Propofol Infusion syndrome during refractory status epilepticus in a young adult: successful ECMO resuscitation.

Guitton C, Gabillet L, Latour P, Rigal JC, Boutoille D, Al Habash O, Derkinderen P, Bretonniere C, Villers D.

Neurocrit Care. 2011 Aug;15(1):139-45. doi: 10.1007/s12028-010-9385-7.


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

Latour P, Thauvin-Robinet C, Baudelet-Méry C, Soichot P, Cusin V, Faivre L, Locatelli MC, Mayençon M, Sarcey A, Broussolle E, Camu W, David A, Rousson R.

Am J Hum Genet. 2010 Jan;86(1):77-82. doi: 10.1016/j.ajhg.2009.12.005. Epub 2009 Dec 31.


[Molecular diagnosis of axonal forms of Charcot-Marie-Tooth disease].

Latour P, Vial C.

Rev Neurol (Paris). 2009 Dec;165(12):1122-6. doi: 10.1016/j.neurol.2009.10.002. French.


Ultrastructural mitochondrial modifications characteristic of mitofusin 2 mutations (CMT2A).

Sole G, Ferrer X, Vital C, Martin-Negrier ML, Vital A, Latour P.

J Peripher Nerv Syst. 2009 Sep;14(3):206-7. doi: 10.1111/j.1529-8027.2009.00234.x. No abstract available.


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

Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.

Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6.


U1 snRNA mis-binding: a new cause of CMT1B.

Crehalet H, Latour P, Bonnet V, Attarian S, Labauge P, Bonello N, Bernard R, Millat G, Rousson R, Bozon D.

Neurogenetics. 2010 Feb;11(1):13-9. doi: 10.1007/s10048-009-0199-8. Epub 2009 May 28.


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