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Items: 1 to 50 of 171

1.

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins.

Alves S, Marais T, Biferi MG, Furling D, Marinello M, El Hachimi K, Cartier N, Ruberg M, Stevanin G, Brice A, Barkats M, Sittler A.

Mol Neurodegener. 2016 Jul 28;11(1):58. doi: 10.1186/s13024-016-0123-2.

2.

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C, Rupp J, Boissel JP, Mignot C, Rastetter A, Amiet C, Jacquette A, Dupuits C, Bouteiller D, Keren B, Ruberg M, Faudet A, Doummar D, Philippe A, Périsse D, Laurent C, Lebrun N, Guillemot V, Chelly J, Cohen D, Héron D, Brice A, Closs EI, Depienne C.

Amino Acids. 2015 Dec;47(12):2647-58. doi: 10.1007/s00726-015-2057-3. Epub 2015 Jul 28.

3.

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.

Alves S, Cormier-Dequaire F, Marinello M, Marais T, Muriel MP, Beaumatin F, Charbonnier-Beaupel F, Tahiri K, Seilhean D, El Hachimi K, Ruberg M, Stevanin G, Barkats M, den Dunnen W, Priault M, Brice A, Durr A, Corvol JC, Sittler A.

Acta Neuropathol. 2014 Nov;128(5):705-22. doi: 10.1007/s00401-014-1289-8. Epub 2014 May 24.

PMID:
24859968
4.

Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.

Chort A, Alves S, Marinello M, Dufresnois B, Dornbierer JG, Tesson C, Latouche M, Baker DP, Barkats M, El Hachimi KH, Ruberg M, Janer A, Stevanin G, Brice A, Sittler A.

Brain. 2013 Jun;136(Pt 6):1732-45. doi: 10.1093/brain/awt061. Epub 2013 Mar 21.

PMID:
23518714
5.

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

Le Ber I, Camuzat A, Guillot-Noel L, Hannequin D, Lacomblez L, Golfier V, Puel M, Martinaud O, Deramecourt V, Rivaud-Pechoux S, Millecamps S, Vercelletto M, Couratier P, Sellal F, Pasquier F, Salachas F, Thomas-Antérion C, Didic M, Pariente J, Seilhean D, Ruberg M, Wargon I, Blanc F, Camu W, Michel BF, Berger E, Sauvée M, Thauvin-Robinet C, Mondon K, Tournier-Lasserve E, Goizet C, Fleury M, Viennet G, Verpillat P, Meininger V, Duyckaerts C, Dubois B, Brice A.

J Alzheimers Dis. 2013;34(2):485-99. doi: 10.3233/JAD-121456.

PMID:
23254636
6.

The impact of familial structure on Parkinson's disease in Istanbul Medical School, Turkey.

Lohmann E, Hanağası HA, Gürvit H, Kayacı G, Ruberg M, Yazıcı J, Emre M.

Int J Neurosci. 2012 Feb;122(2):102-5. doi: 10.3109/00207454.2011.631715. Epub 2011 Dec 1.

PMID:
21995451
7.

Highly potent 5-aminotetrahydropyrazolopyridines: enantioselective dopamine D3 receptor binding, functional selectivity, and analysis of receptor-ligand interactions.

Tschammer N, Elsner J, Goetz A, Ehrlich K, Schuster S, Ruberg M, Kühhorn J, Thompson D, Whistler J, Hübner H, Gmeiner P.

J Med Chem. 2011 Apr 14;54(7):2477-91. doi: 10.1021/jm101639t. Epub 2011 Mar 9.

PMID:
21388142
8.

Natural lipophilic inhibitors of mitochondrial complex I are candidate toxins for sporadic neurodegenerative tau pathologies.

Höllerhage M, Matusch A, Champy P, Lombès A, Ruberg M, Oertel WH, Höglinger GU.

Exp Neurol. 2009 Nov;220(1):133-42. doi: 10.1016/j.expneurol.2009.08.004. Epub 2009 Aug 13.

PMID:
19682988
9.

Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum.

Muriel MP, Dauphin A, Namekawa M, Gervais A, Brice A, Ruberg M.

J Neurochem. 2009 Sep;110(5):1607-16. doi: 10.1111/j.1471-4159.2009.06258.x. Epub 2009 Jul 1.

10.

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E.

PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. Erratum in: PLoS Genet. 2009 Apr;5(4). doi: 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8ece3a.

11.

In vivo evidence for cerebral depletion in high-energy phosphates in progressive supranuclear palsy.

Stamelou M, Pilatus U, Reuss A, Magerkurth J, Eggert KM, Knake S, Ruberg M, Schade-Brittinger C, Oertel WH, Höglinger GU.

J Cereb Blood Flow Metab. 2009 Apr;29(4):861-70. doi: 10.1038/jcbfm.2009.2. Epub 2009 Feb 4.

PMID:
19190655
12.

Atypical parkinsonism in the Caribbean island of Guadeloupe: etiological role of the mitochondrial complex I inhibitor annonacin.

Lannuzel A, Ruberg M, Michel PP.

Mov Disord. 2008 Nov 15;23(15):2122-8. doi: 10.1002/mds.22300. Review.

PMID:
18816693
13.

The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.

Camuzat A, Romana M, Dürr A, Feingold J, Brice A, Ruberg M, Lannuzel A.

Mov Disord. 2008 Dec 15;23(16):2384-91. doi: 10.1002/mds.22297.

PMID:
18785640
14.

A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.

Ben Cheikh BO, Baulac S, Lahjouji F, Bouhouche A, Couarch P, Khalili N, Regragui W, Lehericy S, Ruberg M, Benomar A, Heath S, Chkili T, Yahyaoui M, Jiddane M, Ouazzani R, LeGuern E.

Neurogenetics. 2009 Feb;10(1):35-42. doi: 10.1007/s10048-008-0143-3. Epub 2008 Aug 29.

PMID:
18758830
15.

Recent advances in the genetics of spastic paraplegias.

Stevanin G, Ruberg M, Brice A.

Curr Neurol Neurosci Rep. 2008 May;8(3):198-210. Review.

PMID:
18541115
16.

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.

du Montcel ST, Charles P, Ribai P, Goizet C, Le Bayon A, Labauge P, Guyant-Maréchal L, Forlani S, Jauffret C, Vandenberghe N, N'guyen K, Le Ber I, Devos D, Vincitorio CM, Manto MU, Tison F, Hannequin D, Ruberg M, Brice A, Durr A.

Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31.

PMID:
18378516
17.

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.

Saint-Martin C, Bouteiller D, Stevanin G, Popescu C, Charon C, Ruberg M, Baulac S, LeGuern E, Labauge P, Depienne C.

Neurogenetics. 2008 Feb;9(1):69-71. Epub 2007 Nov 9. No abstract available.

PMID:
17992546
18.

REM sleep behavior disorder in patients with guadeloupean parkinsonism, a tauopathy.

De Cock VC, Lannuzel A, Verhaeghe S, Roze E, Ruberg M, Derenne JP, Willer JC, Vidailhet M, Arnulf I.

Sleep. 2007 Aug;30(8):1026-32.

19.

Annonacin, a natural mitochondrial complex I inhibitor, causes tau pathology in cultured neurons.

Escobar-Khondiker M, Höllerhage M, Muriel MP, Champy P, Bach A, Depienne C, Respondek G, Yamada ES, Lannuzel A, Yagi T, Hirsch EC, Oertel WH, Jacob R, Michel PP, Ruberg M, Höglinger GU.

J Neurosci. 2007 Jul 18;27(29):7827-37.

20.

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.

Depienne C, Fedirko E, Faucheux JM, Forlani S, Bricka B, Goizet C, Lesourd S, Stevanin G, Ruberg M, Durr A, Brice A.

Neurogenetics. 2007 Aug;8(3):231-3. Epub 2007 Jun 28.

PMID:
17597328
21.

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.

Lesage S, Leclere L, Lohmann E, Borg M, Ruberg M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Neurodegener Dis. 2007;4(2-3):195-8.

PMID:
17596714
22.

Stimulation of subterritories of the subthalamic nucleus reveals its role in the integration of the emotional and motor aspects of behavior.

Mallet L, Schüpbach M, N'Diaye K, Remy P, Bardinet E, Czernecki V, Welter ML, Pelissolo A, Ruberg M, Agid Y, Yelnik J.

Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10661-6. Epub 2007 Jun 7.

23.

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.

Nabbout R, Baulac S, Desguerre I, Bahi-Buisson N, Chiron C, Ruberg M, Dulac O, LeGuern E.

Neurology. 2007 Apr 24;68(17):1374-81.

PMID:
17452582
24.

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.

Brain. 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8.

PMID:
17347251
25.

A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes.

Latouche M, Lasbleiz C, Martin E, Monnier V, Debeir T, Mouatt-Prigent A, Muriel MP, Morel L, Ruberg M, Brice A, Stevanin G, Tricoire H.

J Neurosci. 2007 Mar 7;27(10):2483-92.

26.

Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.

Chojnowski A, Ravisé N, Bachelin C, Depienne C, Ruberg M, Brugg B, Laporte J, Baron-Van Evercooren A, LeGuern E.

Neurobiol Dis. 2007 May;26(2):323-31. Epub 2007 Jan 25.

PMID:
17336078
27.

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A.

Nat Genet. 2007 Mar;39(3):366-72. Epub 2007 Feb 18.

PMID:
17322883
28.

Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.

Namekawa M, Muriel MP, Janer A, Latouche M, Dauphin A, Debeir T, Martin E, Duyckaerts C, Prigent A, Depienne C, Sittler A, Brice A, Ruberg M.

Mol Cell Neurosci. 2007 May;35(1):1-13. Epub 2007 Jan 26.

PMID:
17321752
29.

Atypical parkinsonism in Guadeloupe: a common risk factor for two closely related phenotypes?

Lannuzel A, Höglinger GU, Verhaeghe S, Gire L, Belson S, Escobar-Khondiker M, Poullain P, Oertel WH, Hirsch EC, Dubois B, Ruberg M.

Brain. 2007 Mar;130(Pt 3):816-27. Epub 2007 Feb 15.

PMID:
17303592
30.

Metabolic activity of cerebellar and basal ganglia-thalamic neurons is reduced in parkinsonism.

Rolland AS, Herrero MT, Garcia-Martinez V, Ruberg M, Hirsch EC, François C.

Brain. 2007 Jan;130(Pt 1):265-75.

PMID:
17148469
31.

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.

Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A.

J Med Genet. 2007 Apr;44(4):281-4. Epub 2006 Nov 10.

32.

Is atypical parkinsonism in the Caribbean caused by the consumption of Annonacae?

Lannuzel A, Höglinger GU, Champy P, Michel PP, Hirsch EC, Ruberg M.

J Neural Transm Suppl. 2006;(70):153-7.

PMID:
17017523
33.

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

Azzedine H, Ravisé N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E.

Neurology. 2006 Aug 22;67(4):602-6.

PMID:
16924012
34.

PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins.

Janer A, Martin E, Muriel MP, Latouche M, Fujigasaki H, Ruberg M, Brice A, Trottier Y, Sittler A.

J Cell Biol. 2006 Jul 3;174(1):65-76.

35.

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E.

Neuromolecular Med. 2006;8(1-2):75-86. Review.

PMID:
16775368
36.

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E.

Neurology. 2006 Jun 13;66(11):1721-6. Erratum in: Neurology. 2006 Aug 22;67(4):727.

PMID:
16769947
37.
38.

Parkin modulates gene expression in control and ceramide-treated PC12 cells.

Unschuld PG, Dächsel J, Darios F, Kohlmann A, Casademunt E, Lehmann-Horn K, Dichgans M, Ruberg M, Brice A, Gasser T, Lücking CB.

Mol Biol Rep. 2006 Mar;33(1):13-32.

PMID:
16636914
39.

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.

Namekawa M, Nelson I, Ribai P, Dürr A, Denis E, Stevanin G, Ruberg M, Brice A.

Neurogenetics. 2006 May;7(2):131-2. Epub 2006 Apr 13. No abstract available.

PMID:
16612642
40.

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E.

Hum Mutat. 2006 Apr;27(4):389.

PMID:
16541393
41.

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A.

Neurology. 2006 Jan 10;66(1):112-4.

PMID:
16401858
42.

Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity.

Latouche M, Fragner P, Martin E, El Hachimi KH, Zander C, Sittler A, Ruberg M, Brice A, Stevanin G.

Mol Cell Neurosci. 2006 Mar;31(3):438-45. Epub 2005 Dec 1.

PMID:
16325416
43.

The alpha2-adrenoceptor antagonist dexefaroxan enhances hippocampal neurogenesis by increasing the survival and differentiation of new granule cells.

Rizk P, Salazar J, Raisman-Vozari R, Marien M, Ruberg M, Colpaert F, Debeir T.

Neuropsychopharmacology. 2006 Jun;31(6):1146-57.

44.

The mitochondrial complex I inhibitor rotenone triggers a cerebral tauopathy.

Höglinger GU, Lannuzel A, Khondiker ME, Michel PP, Duyckaerts C, Féger J, Champy P, Prigent A, Medja F, Lombes A, Oertel WH, Ruberg M, Hirsch EC.

J Neurochem. 2005 Nov;95(4):930-9. Epub 2005 Aug 10.

45.

Quantification of acetogenins in Annona muricata linked to atypical parkinsonism in guadeloupe.

Champy P, Melot A, Guérineau Eng V, Gleye C, Fall D, Höglinger GU, Ruberg M, Lannuzel A, Laprévote O, Laurens A, Hocquemiller R.

Mov Disord. 2005 Dec;20(12):1629-33.

PMID:
16078200
46.

Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.

Naïmi M, Tardieu S, Depienne C, Ruberg M, Brice A, Dubourg O, Leguern E.

Am J Med Genet A. 2005 Jul 15;136(2):136-9.

PMID:
15940694
47.

Pleiotrophin mediates the neurotrophic effect of cyclic AMP on dopaminergic neurons: analysis of suppression-subtracted cDNA libraries and confirmation in vitro.

Mourlevat S, Debeir T, Ferrario JE, Delbe J, Caruelle D, Lejeune O, Depienne C, Courty J, Raisman-Vozari R, Ruberg M.

Exp Neurol. 2005 Jul;194(1):243-54.

PMID:
15899261
48.
49.

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G.

Ann Neurol. 2005 Apr;57(4):567-71.

PMID:
15786464
50.

Parkinson's disease: from causes to mechanisms.

Corti O, Hampe C, Darios F, Ibanez P, Ruberg M, Brice A.

C R Biol. 2005 Feb;328(2):131-42. Review.

PMID:
15770999

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