Publications by authors named "Merle Ruberg"

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Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins.
Sandro Alves, Thibaut Marais, Maria-Grazia Biferi, Denis Furling, Martina Marinello, Merle Ruberg

Mol Neurodegener· July 2016

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Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Caroline Nava, Johanna Rupp, Jean-Paul Boissel, Cyril Mignot, Agnès Rastetter, Merle Ruberg

Amino Acids· December 2015

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The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.
Sandro Alves, Florence Cormier-Dequaire, Martina Marinello, Thibaut Marais, Marie-Paule Muriel, Merle Ruberg

Acta Neuropathol· November 2014

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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, Merle Ruberg

J Alzheimers Dis· October 2013

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Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.
Alice Chort, Sandro Alves, Martina Marinello, Béatrice Dufresnois, Jean-Gabriel Dornbierer, Merle Ruberg

Brain· June 2013

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The impact of familial structure on Parkinson's disease in Istanbul Medical School, Turkey.
Ebba Lohmann, Haşmet A Hanağası, Hakan Gürvit, Günes Kayacı, Merle Ruberg

Int J Neurosci· February 2012

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Natural lipophilic inhibitors of mitochondrial complex I are candidate toxins for sporadic neurodegenerative tau pathologies.
Matthias Höllerhage, Andreas Matusch, Pierre Champy, Anne Lombès, Merle Ruberg

Exp Neurol· November 2009

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Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum.
Marie-Paule Muriel, Aurélien Dauphin, Michito Namekawa, Annie Gervais, Alexis Brice, Merle Ruberg

J Neurochem· September 2009

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In vivo evidence for cerebral depletion in high-energy phosphates in progressive supranuclear palsy.
Maria Stamelou, Ulrich Pilatus, Alexander Reuss, Jörg Magerkurth, Karla M Eggert, Merle Ruberg

J Cereb Blood Flow Metab· April 2009

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A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.
Bouchra Ouled Amar Ben Cheikh, Stéphanie Baulac, Fatiha Lahjouji, Ahmed Bouhouche, Philippe Couarch, Merle Ruberg

Neurogenetics· February 2009

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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Merle Ruberg

PLoS Genet· February 2009

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The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.
Agnès Camuzat, Marc Romana, Alexandra Dürr, Josué Feingold, Alexis Brice, Merle Ruberg

Mov Disord· December 2008

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Atypical parkinsonism in the Caribbean island of Guadeloupe: etiological role of the mitochondrial complex I inhibitor annonacin.
Annie Lannuzel, Merle Ruberg, Patrick P Michel

Mov Disord· November 2008

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Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
Sophie Tezenas du Montcel, Perrine Charles, Pascale Ribai, Cyril Goizet, Alice Le Bayon, Merle Ruberg

Brain· May 2008

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Recent advances in the genetics of spastic paraplegias.
Giovanni Stevanin, Merle Ruberg, Alexis Brice

Curr Neurol Neurosci Rep· May 2008

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Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.
Cécile Saint-Martin, Delphine Bouteiller, Giovanni Stevanin, Cyprian Popescu, Céline Charon, Merle Ruberg

Neurogenetics· February 2008

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Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.
Suzanne Lesage, Laurence Leclere, Ebba Lohmann, Michel Borg, Merle Ruberg

Neurodegener Dis· October 2007

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A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.
Christel Depienne, Estelle Fedirko, Jean-Marc Faucheux, Sylvie Forlani, Bernard Bricka, Merle Ruberg

Neurogenetics· August 2007

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REM sleep behavior disorder in patients with guadeloupean parkinsonism, a tauopathy.
Valérie Cochen De Cock, Annie Lannuzel, Stéphane Verhaeghe, Emmanuel Roze, Merle Ruberg

Sleep· August 2007

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Annonacin, a natural mitochondrial complex I inhibitor, causes tau pathology in cultured neurons.
Myriam Escobar-Khondiker, Matthias Höllerhage, Marie-Paule Muriel, Pierre Champy, Antoine Bach, Merle Ruberg

J Neurosci· July 2007

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Stimulation of subterritories of the subthalamic nucleus reveals its role in the integration of the emotional and motor aspects of behavior.
Luc Mallet, Michael Schüpbach, Karim N'Diaye, Philippe Remy, Eric Bardinet, Merle Ruberg

Proc Natl Acad Sci U S A· June 2007

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Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
Alexandre Chojnowski, Nicole Ravisé, Corinne Bachelin, Christel Depienne, Merle Ruberg

Neurobiol Dis· May 2007

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Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Ahmed Bouhouche, Nazha Birouk, Hamid Azzedine, Ali Benomar, Garry Durosier, Merle Ruberg

Brain· April 2007

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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Merle Ruberg

Nat Genet· March 2007

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A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes.
Morwena Latouche, Christelle Lasbleiz, Elodie Martin, Véronique Monnier, Thomas Debeir, Merle Ruberg

J Neurosci· March 2007

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