Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test
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Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Vanier, Marie T., Gissen, Paul, Bauer, Peter, Coll, Maria J., Burlina, Alberto, Hendriksz, Christian J., Latour, Philippe, Goizet, Cyril, Welford, Richard W.D., Marquardt, Thorsten, Kolb, Stefan A.
Published in Molecular genetics and metabolism (01.08.2016)
Published in Molecular genetics and metabolism (01.08.2016)
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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, Magali, Froissart, Roseline, Pagan, Cécile, Vanier, Marie T, Ruet, Séverine, Latour, Philippe, Guffon, Nathalie, Fouilhoux, Alain, Germain, Dominique P, Levade, Thierry, Vianey-Saban, Christine, Piraud, Monique, Cheillan, David
Published in PloS one (27.07.2017)
Published in PloS one (27.07.2017)
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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
Ceprian, Maria, Juntas-Morales, Raul, Campbell, Graham, Walther-Louvier, Ulrike, Rivier, François, Camu, William, Esselin, Florence, Echaniz-Laguna, Andoni, Stojkovic, Tanya, Bouhour, Françoise, Latour, Philippe, Tricaud, Nicolas
Published in International journal of molecular sciences (15.04.2024)
Published in International journal of molecular sciences (15.04.2024)
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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Freihuber, Cécile, Dahmani-Rabehi, Bahia, Brassier, Anaïs, Broué, Pierre, Cances, Claude, Chabrol, Brigitte, Eyer, Didier, Labarthe, François, Latour, Philippe, Levade, Thierry, Pichard, Samia, Sevin, Caroline, Vanier, Marie T, Héron, Bénédicte
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, De Gaillarbois, Thierry Dubard, Roze, Emmanuel, Lamari, Foudil, Vanier, Marie T, Héron, Bénédicte
Published in Orphanet journal of rare diseases (01.10.2018)
Published in Orphanet journal of rare diseases (01.10.2018)
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Journal Article
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
Piraud, Monique, Pettazzoni, Magali, Lavoie, Pamela, Ruet, Séverine, Pagan, Cécile, Cheillan, David, Latour, Philippe, Vianey-Saban, Christine, Auray-Blais, Christiane, Froissart, Roseline
Published in Journal of inherited metabolic disease (01.05.2018)
Published in Journal of inherited metabolic disease (01.05.2018)
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Journal Article
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders
Zech, Michael, Nübling, Georg, Castrop, Florian, Jochim, Angela, Schulte, Eva C, Mollenhauer, Brit, Lichtner, Peter, Peters, Annette, Gieger, Christian, Marquardt, Thorsten, Vanier, Marie T, Latour, Philippe, Klünemann, Hans, Trenkwalder, Claudia, Diehl-Schmid, Janine, Perneczky, Robert, Meitinger, Thomas, Oexle, Konrad, Haslinger, Bernhard, Lorenzl, Stefan, Winkelmann, Juliane
Published in PloS one (30.12.2013)
Published in PloS one (30.12.2013)
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Journal Article
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C
Héron, Bénédicte, Valayannopoulos, Vassili, Baruteau, Julien, Chabrol, Brigitte, Ogier, Hélène, Latour, Philippe, Dobbelaere, Dries, Eyer, Didier, Labarthe, François, Maurey, Hélène, Cuisset, Jean-Marie, de Villemeur, Thierry Billette, Sedel, Frédéric, Vanier, Marie T
Published in Orphanet journal of rare diseases (07.06.2012)
Published in Orphanet journal of rare diseases (07.06.2012)
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A phase I clinical trial of dendritic cell immunotherapy in HCV-infected individuals
Gowans, Eric J, Roberts, Stuart, Jones, Kathryn, Dinatale, Irene, Latour, Philippe A, Chua, Brendan, Eriksson, Emily M.Y, Chin, Ruth, Li, Shuo, Wall, Dominic M, Sparrow, Rosemary L, Moloney, Jude, Loudovaris, Maureen, Ffrench, Rosemary, Prince, H. Miles, Hart, Derek, Zeng, Weng, Torresi, Joseph, Brown, Lorena E, Jackson, David C
Published in Journal of hepatology (01.10.2010)
Published in Journal of hepatology (01.10.2010)
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Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death
Jacquier, Arnaud, Delorme, Cécile, Belotti, Edwige, Juntas-Morales, Raoul, Solé, Guilhem, Dubourg, Odile, Giroux, Marianne, Maurage, Claude-Alain, Castellani, Valérie, Rebelo, Adriana, Abrams, Alexander, Züchner, Stephan, Stojkovic, Tanya, Schaeffer, Laurent, Latour, Philippe
Published in Acta neuropathologica communications (14.07.2017)
Published in Acta neuropathologica communications (14.07.2017)
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Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
Schluth-Bolard, Caroline, Delobel, Bruno, Sanlaville, Damien, Boute, Odile, Cuisset, Jean-Marie, Sukno, Sylvie, Labalme, Audrey, Duban-Bedu, Bénédicte, Plessis, Ghislaine, Jaillard, Sylvie, Dubourg, Christèle, Henry, Catherine, Lucas, Josette, Odent, Sylvie, Pasquier, Laurent, Copin, Henri, Latour, Philippe, Cordier, Marie-Pierre, Nadeau, Gwenaël, Till, Marianne, Edery, Patrick, Andrieux, Joris
Published in European journal of medical genetics (01.09.2009)
Published in European journal of medical genetics (01.09.2009)
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Journal Article
Induction of multi-functional T cells in a phase I clinical trial of dendritic cell immunotherapy in hepatitis C virus infected individuals
Li, Shuo, Roberts, Stuart, Plebanski, Magdalena, Gouillou, Maelenn, Spelman, Tim, Latour, Philippe, Jackson, David, Brown, Lorena, Sparrow, Rosemary L, Prince, H Miles, Hart, Derek, Loveland, Bruce E, Gowans, Eric J
Published in PloS one (14.08.2012)
Published in PloS one (14.08.2012)
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Journal Article
The Spectrum of Niemann-Pick Type C Disease in Greece
Mavridou, Irene, Dimitriou, Evangelia, Vanier, Marie T., Vilageliu, Lluisa, Grinberg, Daniel, Latour, Philippe, Xaidara, Athina, Lycopoulou, Lilia, Bostantjopoulou, Sevasti, Zafeiriou, Dimitrios, Michelakakis, Helen
Published in JIMD Reports, Volume 36 (01.01.2017)
Published in JIMD Reports, Volume 36 (01.01.2017)
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Book Chapter
Journal Article
A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease
LATOUR, Philippe, THAUVIN-ROBINET, Christel, CAMU, William, DAVID, Albert, ROUSSON, Robert, BAUDELET-MERY, Chantal, SOICHOT, Pierre, CUSIN, Veronica, FAIVRE, Laurence, LOCATELLI, Marie-Claire, MAYENCON, Martine, SARCEY, Annie, BROUSSOLLE, Emmanuel
Published in American journal of human genetics (01.01.2010)
Published in American journal of human genetics (01.01.2010)
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Journal Article
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients
Carvalho, Alzira A. S., Vital, Anne, Ferrer, Xavier, Latour, Philippe, Lagueny, Alain, Brechenmacher, Christiane, Vital, Claude
Published in Journal of the peripheral nervous system (01.03.2005)
Published in Journal of the peripheral nervous system (01.03.2005)
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Journal Article
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families
Jacquier, Arnaud, Theuriet, Julian, Ribault, Shams, Lacoste, Nicolas, Pegat, Antoine, Latour, Philippe, Schaeffer, Laurent
Published in Brain (London, England : 1878) (02.05.2023)
Published in Brain (London, England : 1878) (02.05.2023)
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Journal Article
Identification of rare variants in the FBXO38 gene of patients with chronic inflammatory demyelinating polyradiculoneuropathy
Pegat, Antoine, Chanson, Jean-Baptiste, Lozeron, Pierre, Joubert, Bastien, Bani-Sadr, Alexandre, Quadrio, Isabelle, Vidoni, Léo, Latour, Philippe
Published in Journal of neuroimmunology (15.07.2024)
Published in Journal of neuroimmunology (15.07.2024)
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