Full Text Journal Articles by
Author Stephanie Millecamps


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Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.

Maria-Del-Mar Amador, François Muratet, Elisa Teyssou, Guillaume Banneau, Véronique Danel-Brunaud, Etienne Allart, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Mathieu Anheim, Gabrielle Rudolf, Christine Tranchant, Marie-Céline Fleury, Emilien Bernard, Giovanni Stevanin, Stéphanie Millecamps,

Objective:The aim of this study was to evaluate whether mutations in ERLIN2, known to cause SPG18, a recessive hereditary spastic paraplegia (SP) responsible for the degeneration of the upper motor neurons leading to weakness and spasticity restricted to the lower limbs, could contribute to amyotrophic lateral sclerosis (ALS), a distinct ... Read more >>

Neurol Genet (Neurology. Genetics)
[2019, 5(6):e374]

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Increased prevalence of granulovacuolar degeneration in C9orf72 mutation.

Yuichi Riku, Charles Duyckaerts, Susana Boluda, Isabelle Plu, Isabelle Le Ber, Stéphanie Millecamps, François Salachas, , Mari Yoshida, Takashi Ando, Masahisa Katsuno, Gen Sobue, Danielle Seilhean,

Granulovacuolar degeneration (GVD) is usually found in Alzheimer's disease (AD) cases or in elderly individuals. Its severity correlates positively with the density of neurofibrillary tangles (NFTs). Mechanisms underlying GVD formation are unknown. We assessed the prevalence and distribution of GVD in cases with TDP-43-related frontotemporal lobar degeneration (FTLD-TDP) and amyotrophic ... Read more >>

Acta Neuropathol. (Acta neuropathologica)
[2019, 138(5):783-793]

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Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.

Antoine Pegat, Françoise Bouhour, Kevin Mouzat, Christophe Vial, Benoit Pegat, Pascal Leblanc, Emmanuel Broussolle, Stéphanie Millecamps, Serge Lumbroso, Emilien Bernard,

OBJECTIVE:C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS). The aim of the present study was to determine whether C9ORF72-associated ALS (C9-ALS) patients present distinctive electrophysiological characteristics that could differentiate them from non C9ORF72-associated ALS (nonC9-ALS) patients. METHODS:Clinical and electrodiagnostic data from C9-ALS patients and nonC9-ALS patients ... Read more >>

Eur. Neurol. (European neurology)
[2019, 82(4-6):106-112]

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Oxidation of SQSTM1/p62 mediates the link between redox state and protein homeostasis.

Bernadette Carroll, Elsje G Otten, Diego Manni, Rhoda Stefanatos, Fiona M Menzies, Graham R Smith, Diana Jurk, Niall Kenneth, Simon Wilkinson, Joao F Passos, Johannes Attems, Elizabeth A Veal, Elisa Teyssou, Danielle Seilhean, Stéphanie Millecamps, Eeva-Liisa Eskelinen, Agnieszka K Bronowska, David C Rubinsztein, Alberto Sanz, Viktor I Korolchuk,

Cellular homoeostatic pathways such as macroautophagy (hereinafter autophagy) are regulated by basic mechanisms that are conserved throughout the eukaryotic kingdom. However, it remains poorly understood how these mechanisms further evolved in higher organisms. Here we describe a modification in the autophagy pathway in vertebrates, which promotes its activity in response ... Read more >>

Nat Commun (Nature communications)
[2018, 9(1):256]

Cited: 23 times

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Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro, Yann Nadjar,

5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clinical picture is often complex with association of various neurological features and thrombosis.Here we report the cases of two adult siblings who experienced ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2018, 13(1):29]

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Phenotypic and genotypic studies of ALS cases in ALS-SMA families.

Philippe Corcia, Patrick Vourc'h, Helene Blasco, Philippe Couratier, Audrey Dangoumau, Remi Bellance, Claude Desnuelle, Fausto Viader, Vivien Pautot, Stephanie Millecamps, Salah Bakkouche, FranÇois Salachas, Christian R Andres, Vincent Meininger, William Camu,

BACKGROUND:Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. OBJECTIVES:To collect ... Read more >>

Amyotroph Lateral Scler Frontotemporal Degener (Amyotrophic lateral sclerosis & frontotemporal degeneration)
[2018, 19(5-6):432-437]

Cited: 2 times

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Amygdala TDP-43 Pathology in Frontotemporal Lobar Degeneration and Motor Neuron Disease.

Takahiro Takeda, Danielle Seilhean, Isabelle Le Ber, Stéphanie Millecamps, Véronique Sazdovitch, Kazuo Kitagawa, Toshiki Uchihara, Charles Duyckaerts,

TDP-43-positive inclusions are present in the amygdala in frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) including amyotrophic lateral sclerosis. Behavioral abnormalities, one of the chief symptoms of FTLD, could be, at least partly, related to amygdala pathology. We examined TDP-43 inclusions in the amygdala of patients with sporadic ... Read more >>

J. Neuropathol. Exp. Neurol. (Journal of neuropathology and experimental neurology)
[2017, 76(9):800-812]

Cited: 2 times

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Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis.

Elisa Teyssou, Laura Chartier, Maria-Del-Mar Amador, Roselina Lam, Géraldine Lautrette, Marie Nicol, Selma Machat, Sandra Da Barroca, Carine Moigneu, Mathilde Mairey, Thierry Larmonier, Safaa Saker, Christelle Dussert, Sylvie Forlani, Bertrand Fontaine, Danielle Seilhean, Delphine Bohl, Séverine Boillée, Vincent Meininger, Philippe Couratier, François Salachas, Giovanni Stevanin, Stéphanie Millecamps,

Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). Here, we report 1 known (c.1489C>T, p.Pro497Ser, P497S) and 3 novel (c.1481C>T, p.Pro494Leu, P494L; c.1498C>T, p.Pro500Ser, P500S; and c.1516C>G, p.Pro506Ala, P506A) missense mutations ... Read more >>

Neurobiol. Aging (Neurobiology of aging)
[2017, 58:239.e11-239.e20]

Cited: 10 times

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Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.

Russell L McLaughlin, Dick Schijven, Wouter van Rheenen, Kristel R van Eijk, Margaret O'Brien, René S Kahn, Roel A Ophoff, An Goris, Daniel G Bradley, Ammar Al-Chalabi, Leonard H van den Berg, Jurjen J Luykx, Orla Hardiman, Jan H Veldink, , ,

We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we ... Read more >>

Nat Commun (Nature communications)
[2017, 8:14774]

Cited: 27 times

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ATXN2 trinucleotide repeat length correlates with risk of ALS.

William Sproviero, Aleksey Shatunov, Daniel Stahl, Maryam Shoai, Wouter van Rheenen, Ashley R Jones, Safa Al-Sarraj, Peter M Andersen, Nancy M Bonini, Francesca L Conforti, Philip Van Damme, Hussein Daoud, Maria Del Mar Amador, Isabella Fogh, Monica Forzan, Ben Gaastra, Cinzia Gellera, Aaron D Gitler, John Hardy, Pietro Fratta, Vincenzo La Bella, Isabelle Le Ber, Tim Van Langenhove, Serena Lattante, Yi-Chung Lee, Andrea Malaspina, Vincent Meininger, Stéphanie Millecamps, Richard Orrell, Rosa Rademakers, Wim Robberecht, Guy Rouleau, Owen A Ross, Francois Salachas, Katie Sidle, Bradley N Smith, Bing-Wen Soong, Gianni Sorarù, Giovanni Stevanin, Edor Kabashi, Claire Troakes, Christine van Broeckhoven, Jan H Veldink, Leonard H van den Berg, Christopher E Shaw, John F Powell, Ammar Al-Chalabi,

We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically ... Read more >>

Neurobiol. Aging (Neurobiology of aging)
[2017, 51:178.e1-178.e9]

Cited: 8 times

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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Wouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, Russell L McLaughlin, Frank P Diekstra, Sara L Pulit, Rick A A van der Spek, Urmo Võsa, Simone de Jong, Matthew R Robinson, Jian Yang, Isabella Fogh, Perry Tc van Doormaal, Gijs H P Tazelaar, Max Koppers, Anna M Blokhuis, William Sproviero, Ashley R Jones, Kevin P Kenna, Kristel R van Eijk, Oliver Harschnitz, Raymond D Schellevis, William J Brands, Jelena Medic, Androniki Menelaou, Alice Vajda, Nicola Ticozzi, Kuang Lin, Boris Rogelj, Katarina Vrabec, Metka Ravnik-Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesus S Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen E Morrison, Pamela J Shaw, John Hardy, Richard W Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanne Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A Ophoff, Kim A Staats, Martina Wiedau-Pazos, Catherine Lomen-Hoerth, Vivianna M Van Deerlin, John Q Trojanowski, Lauren Elman, Leo McCluskey, A Nazli Basak, Ceren Tunca, Hamid Hamzeiy, Yesim Parman, Thomas Meitinger, Peter Lichtner, Milena Radivojkov-Blagojevic, Christian R Andres, Cindy Maurel, Gilbert Bensimon, Bernhard Landwehrmeyer, Alexis Brice, Christine A M Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas W Wood, Lukas Tittmann, Wolfgang Lieb, Andre Franke, Marcella Rietschel, Sven Cichon, Markus M Nöthen, Philippe Amouyel, Christophe Tzourio, Jean-François Dartigues, Andre G Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Hylke M Blauw, Anneke J van der Kooi, Marianne de Visser, An Goris, Markus Weber, Christopher E Shaw, Bradley N Smith, Orietta Pansarasa, Cristina Cereda, Roberto Del Bo, Giacomo P Comi, Sandra D'Alfonso, Cinzia Bertolin, Gianni Sorarù, Letizia Mazzini, Viviana Pensato, Cinzia Gellera, Cinzia Tiloca, Antonia Ratti, Andrea Calvo, Cristina Moglia, Maura Brunetti, Simona Arcuti, Rosa Capozzo, Chiara Zecca, Christian Lunetta, Silvana Penco, Nilo Riva, Alessandro Padovani, Massimiliano Filosto, Bernard Muller, Robbert Jan Stuit, , , , , , , Ian Blair, Katharine Zhang, Emily P McCann, Jennifer A Fifita, Garth A Nicholson, Dominic B Rowe, Roger Pamphlett, Matthew C Kiernan, Julian Grosskreutz, Otto W Witte, Thomas Ringer, Tino Prell, Beatrice Stubendorff, Ingo Kurth, Christian A Hübner, P Nigel Leigh, Federico Casale, Adriano Chio, Ettore Beghi, Elisabetta Pupillo, Rosanna Tortelli, Giancarlo Logroscino, John Powell, Albert C Ludolph, Jochen H Weishaupt, Wim Robberecht, Philip Van Damme, Lude Franke, Tune H Pers, Robert H Brown, Jonathan D Glass, John E Landers, Orla Hardiman, Peter M Andersen, Philippe Corcia, Patrick Vourc'h, Vincenzo Silani, Naomi R Wray, Peter M Visscher, Paul I W de Bakker, Michael A van Es, R Jeroen Pasterkamp, Cathryn M Lewis, Gerome Breen, Ammar Al-Chalabi, Leonard H van den Berg, Jan H Veldink,

To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 ... Read more >>

Nat. Genet. (Nature genetics)
[2016, 48(9):1043-1048]

Cited: 102 times

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Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients.

Elisa Teyssou, Laura Chartier, Mélanie Albert, Alexandra Bouscary, Jean-Christophe Antoine, Jean-Philippe Camdessanché, Francesco Rotolo, Philippe Couratier, François Salachas, Danielle Seilhean, Stéphanie Millecamps,

Mutations in CHCHD10 have been reported as the cause of a large panel of neurologic disorders. To confirm the contribution of this gene to amyotrophic lateral sclerosis (ALS) disease, we analyzed the 4 coding exons of CHCHD10 by Sanger sequencing in a cohort of 118 French familial ALS already excluded ... Read more >>

Neurobiol. Aging (Neurobiology of aging)
[2016, 42:218.e1-3]

Cited: 5 times

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Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

Paola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C van Swieten, Alexis Brice, Isabelle Le Ber,

We describe the largest series of patients with TARDBP mutations presenting with frontotemporal dementia (FTD) and review the cases in the literature to precisely characterize FTD diseases associated with this genotype.The phenotypic characteristics of 29 TARDBP patients, including 10 new French and Dutch cases and 19 reviewed from the literature, ... Read more >>

Neurol Genet (Neurology. Genetics)
[2016, 2(3):e80]

Cited: 10 times

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TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.

Isabelle Le Ber, Anne De Septenville, Stéphanie Millecamps, Agnès Camuzat, Paola Caroppo, Philippe Couratier, Frédéric Blanc, Lucette Lacomblez, François Sellal, Marie-Céline Fleury, Vincent Meininger, Cécile Cazeneuve, Fabienne Clot, Olivier Flabeau, Eric LeGuern, Alexis Brice, ,

TANK1-binding kinase 1 (TBK1) has been recently identified as a new amyotrophic lateral sclerosis (ALS) gene. Loss-of-function (LoF) mutations in TBK1 could be responsible for 0.4%-4% of ALS. Considering the strong genetic overlap existing between frontotemporal dementia (FTD) and ALS, we have evaluated the frequencies of TBK1 mutations in a ... Read more >>

Neurobiol. Aging (Neurobiology of aging)
[2015, 36(11):3116.e5-3116.e8]

Cited: 21 times

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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

Axel Freischmidt, Thomas Wieland, Benjamin Richter, Wolfgang Ruf, Veronique Schaeffer, Kathrin Müller, Nicolai Marroquin, Frida Nordin, Annemarie Hübers, Patrick Weydt, Susana Pinto, Rayomond Press, Stéphanie Millecamps, Nicolas Molko, Emilien Bernard, Claude Desnuelle, Marie-Hélène Soriani, Johannes Dorst, Elisabeth Graf, Ulrika Nordström, Marisa S Feiler, Stefan Putz, Tobias M Boeckers, Thomas Meyer, Andrea S Winkler, Juliane Winkelman, Mamede de Carvalho, Dietmar R Thal, Markus Otto, Thomas Brännström, Alexander E Volk, Petri Kursula, Karin M Danzer, Peter Lichtner, Ivan Dikic, Thomas Meitinger, Albert C Ludolph, Tim M Strom, Peter M Andersen, Jochen H Weishaupt,

Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS) and 827 control individuals. Gene-based rare variant analysis identified an exome-wide significant enrichment of eight loss-of-function (LoF) mutations in TBK1 (encoding TANK-binding kinase 1) ... Read more >>

Nat. Neurosci. (Nature neuroscience)
[2015, 18(5):631-636]

Cited: 245 times

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Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Serena Lattante, Stéphanie Millecamps, Giovanni Stevanin, Sophie Rivaud-Péchoux, Carine Moigneu, Agnès Camuzat, Sandra Da Barroca, Emeline Mundwiller, Philippe Couarch, François Salachas, Didier Hannequin, Vincent Meininger, Florence Pasquier, Danielle Seilhean, Philippe Couratier, Véronique Danel-Brunaud, Anne-Marie Bonnet, Christine Tranchant, Eric LeGuern, Alexis Brice, Isabelle Le Ber, Edor Kabashi, ,

OBJECTIVE: The aim of this study was to establish the frequency of ATXN2 polyglutamine (polyQ) expansion in large cohorts of patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and progressive supranuclear palsy (PSP), and to evaluate whether ATXN2 could act as a modifier gene in patients carrying the C9orf72 ... Read more >>

Neurology (Neurology)
[2014, 83(11):990-995]

Cited: 26 times

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Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.

Stéphanie Millecamps, Anne De Septenville, Elisa Teyssou, Mailys Daniau, Agnès Camuzat, Mélanie Albert, Eric LeGuern, Daniela Galimberti, , Alexis Brice, Yannick Marie, Isabelle Le Ber,

Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are adult-onset neurodegenerative diseases with overlapping clinical characteristics. They share common genetic causes and pathologic hallmarks such as TDP-43 neuronal accumulations. Recently, exome analysis identified mutations in matrin 3 (MATR3) gene in patients with familial ALS, suggesting a role for this ... Read more >>

Neurobiol. Aging (Neurobiology of aging)
[2014, 35(12):2882.e13-2882.e15]

Cited: 11 times

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Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.

Elisa Teyssou, Nadia Vandenberghe, Carine Moigneu, Séverine Boillée, Philippe Couratier, Vincent Meininger, Pierre-François Pradat, François Salachas, Eric Leguern, Stéphanie Millecamps,

Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease including about 15% of genetically determined forms. A de novo mutation in the SS18L1 (also known as CREST or KIAA0693) gene encoding the calcium-responsive transactivator and/or neuronal chromatin remodeling complex subunit has recently been identified by exome sequencing of 47 ... Read more >>

Neurobiol. Aging (Neurobiology of aging)
[2014, 35(5):1213.e9-1213.e12]

Cited: 13 times

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Axonal transport deficits and neurodegenerative diseases.

Stéphanie Millecamps, Jean-Pierre Julien,

The intracellular transport of organelles along an axon is crucial for the maintenance and function of a neuron. Anterograde axonal transport has a role in supplying proteins and lipids to the distal synapse and mitochondria for local energy requirements, whereas retrograde transport is involved in the clearance of misfolded and ... Read more >>

Nat. Rev. Neurosci. (Nature reviews. Neuroscience)
[2013, 14(3):161-176]

Cited: 254 times

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SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

Isabelle Le Ber, Agnès Camuzat, Rita Guerreiro, Kawtar Bouya-Ahmed, Jose Bras, Gael Nicolas, Audrey Gabelle, Mira Didic, Anne De Septenville, Stéphanie Millecamps, Timothée Lenglet, Morwena Latouche, Edor Kabashi, Dominique Campion, Didier Hannequin, John Hardy, Alexis Brice, ,

IMPORTANCE:Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD. OBJECTIVE:To evaluate the ... Read more >>

JAMA Neurol (JAMA neurology)
[2013, 70(11):1403-1410]

Cited: 49 times

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Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.

Elisa Teyssou, Takahiro Takeda, Vincent Lebon, Séverine Boillée, Brahima Doukouré, Guillaume Bataillon, Véronique Sazdovitch, Cécile Cazeneuve, Vincent Meininger, Eric LeGuern, François Salachas, Danielle Seilhean, Stéphanie Millecamps,

Mutations in SQSTM1 encoding the sequestosome 1/p62 protein have recently been identified in familial and sporadic cases of amyotrophic lateral sclerosis (ALS). p62 is a component of the ubiquitin inclusions detected in degenerating neurons in ALS patients. We sequenced SQSTM1 in 90 French patients with familial ALS (FALS) and 74 ... Read more >>

Acta Neuropathol. (Acta neuropathologica)
[2013, 125(4):511-522]

Cited: 85 times

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C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.

Isabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, Didier Hannequin, Lucette Lacomblez, Véronique Golfier, Michèle Puel, Olivier Martinaud, Vincent Deramecourt, Sophie Rivaud-Pechoux, Stéphanie Millecamps, Martine Vercelletto, Philippe Couratier, François Sellal, Florence Pasquier, François Salachas, Catherine Thomas-Antérion, Mira Didic, Jérémie Pariente, Danielle Seilhean, Merle Ruberg, Isabelle Wargon, Frédéric Blanc, William Camu, Bernard-François Michel, Eric Berger, Mathilde Sauvée, Christel Thauvin-Robinet, Karl Mondon, Elisabeth Tournier-Lasserve, Cyril Goizet, Marie Fleury, Gabriel Viennet, Patrice Verpillat, Vincent Meininger, Charles Duyckaerts, Bruno Dubois, Alexis Brice,

Frontotemporal dementia (FTD) refers to a disease spectrum including the behavioral variant FTD (bvFTD), primary progressive aphasia (PPA), progressive supranuclear palsy/corticobasal degeneration syndrome (PSP/CBDS), and FTD with amyotrophic lateral sclerosis (FTD-ALS). A GGGGCC expansion in C9ORF72 is a major cause of FTD and ALS. C9ORF72 was analyzed in 833 bvFTD, ... Read more >>

J. Alzheimers Dis. (Journal of Alzheimer's disease : JAD)
[2013, 34(2):485-499]

Cited: 39 times

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Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.

Stéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, Danielle Seilhean, Elisa Teyssou, Marine Giraudeau, Carine Moigneu, Nadia Vandenberghe, Véronique Danel-Brunaud, Philippe Corcia, Pierre-François Pradat, Nadine Le Forestier, Lucette Lacomblez, Gaelle Bruneteau, William Camu, Alexis Brice, Cécile Cazeneuve, Eric Leguern, Vincent Meininger, François Salachas,

Expanded GGGGCC hexanucleotide repeats in the promoter of the C9ORF72 gene have recently been identified in frontotemporal dementia (FTD), Amyotrophic Lateral Sclerosis (ALS) and ALS-FTD and appear as the most common genetic cause of familial (FALS) and sporadic (SALS) forms of ALS.We searched for the C9ORF72 repeat expansion in 950 ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2012, 49(4):258-263]

Cited: 63 times

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Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.

Stéphanie Millecamps, Philippe Corcia, Cécile Cazeneuve, Séverine Boillée, Danielle Seilhean, Véronique Danel-Brunaud, Nadia Vandenberghe, Pierre-François Pradat, Nadine Le Forestier, Lucette Lacomblez, Gaëlle Bruneteau, William Camu, Alexis Brice, Vincent Meininger, Eric LeGuern, François Salachas,

Mutations in UBQLN2 encoding ubiquilin-2 have recently been identified in families with dominant X-linked juvenile and adult-onset amyotrophic lateral sclerosis (ALS) and ALS/dementia. Ubiquilin-2 is a component of the ubiquitin inclusions detected in degenerating neurons in ALS patients. All the previously reported UBQLN2 mutations were localized in 1 of the ... Read more >>

Neurobiol. Aging (Neurobiology of aging)
[2012, 33(4):839.e1-3]

Cited: 15 times

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Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.

Mariusz Berdyński, Magdalena Kuźma-Kozakiewicz, Claudia Ricci, Justyna Kubiszewska, Stéphanie Millecamps, François Salachas, Anna Łusakowska, Paola Carrera, Vincent Meininger, Stefania Battistini, Hubert Kwieciński, Cezary Zekanowski,

Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12-23% of patients with a diagnosis of ALS. Here we describe a large ALS Polish family with a branch in France, carrying a G41S mutation in the SOD1, and characterized by an early onset of the disease and extremely ... Read more >>

Amyotroph Lateral Scler (Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases)
[2012, 13(1):132-136]

Cited: 1 time

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