Works by Sablonnière, Bernard

Results: 24

The MAPT gene is differentially methylated in the progressive supranuclear palsy brain.

Published in:

2016

By:

Huin, Vincent;
Deramecourt, Vincent;
Caparros‐Lefebvre, Dominique;
Maurage, Claude‐Alain;
Duyckaerts, Charles;
Kovari, Eniko;
Pasquier, Florence;
Buée‐Scherrer, Valérie;
Labreuche, Julien;
Behal, Hélène;
Buée, Luc;
Dhaenens, Claire‐Marie;
Sablonnière, Bernard

Publication type:

journal article

Association of corticobasal degeneration and Huntington's disease: Can Tau aggregates protect Huntingtin toxicity?

Published in:

Movement Disorders, 2009, v. 24, n. 7, p. 1089, doi. 10.1002/mds.22204

By:

Caparros-Lefebvre, Dominique;
Kerdraon, Olivier;
Devos, David;
Dhaenens, C.M.;
Blum, David;
Maurage, C.A;
Delacourte, André;
Sablonnière, Bernard

Publication type:

Article

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.

Published in:

Movement Disorders, 2006, v. 21, n. 12, p. 2237, doi. 10.1002/mds.21135

By:

Devos, David;
Vuillaume, Isabelle;
De Becdelievre, Alix;
De Martinville, Berengère;
Dhaenens, Claire-Marie;
Cuvellier, Jean-Christophe;
Cuisset, Jean-Marie;
Vallée, Louis;
Lemaitre, Marie-Pierre;
Bourteel, Hélène;
Hachulla, Eric;
Wallaert, Benoit;
Destée, Alain;
Defebvre, Luc;
Sablonnière, Bernard

Publication type:

Article

Clinical and genetic evaluation in a French population presenting with primary focal dystonia.

Published in:

Movement Disorders, 2005, v. 20, n. 7, p. 822, doi. 10.1002/mds.20398

By:

Dhaenens, Claire-Marie;
Krystkowiak, Pierre;
Douay, Xavier;
Charpentier, Pierre;
Bele, Sylvain;
Destée, Alain;
Sablonnière, Bernard

Publication type:

Article

The first identified French family with dentatorubral-pallidoluysian atrophy.

Published in:

2000

By:

Destée, Alain;
Delalande, Isabelle;
Vuillaume, Isabelle;
Schraen-Maschke, Susanna;
Defebvre, Luc;
Sablonnière, Bernard;
Destée, A;
Delalande, I;
Vuillaume, I;
Schraen-Maschke, S;
Defebvre, L;
Sablonnière, B

Publication type:

journal article

Diffuse form of argyrophilic grain disease: a new variant of four-repeat tauopathy different from limbic argyrophilic grain disease.

Published in:

Acta Neuropathologica, 2003, v. 106, n. 6, p. 575, doi. 10.1007/s00401-003-0762-6

By:

Maurage, Claude-Alain;
Sergeant, Nicolas;
Schraen-Maschke, Susanna;
Lebert, Florence;
Ruchoux, Marie-Magdeleine;
Sablonnière, Bernard;
Pasquier, Florence;
Delacourte, André

Publication type:

Article

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.

Published in:

Cerebellum, 2020, v. 19, n. 3, p. 358, doi. 10.1007/s12311-020-01112-y

By:

Homa, Mégane;
Loyens, Anne;
Eddarkaoui, Sabiha;
Faivre, Emilie;
Deramecourt, Vincent;
Maurage, Claude-Alain;
Buée, Luc;
Huin, Vincent;
Sablonnière, Bernard

Publication type:

Article

Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis.

Published in:

Cerebellum, 2012, v. 11, n. 1, p. 289, doi. 10.1007/s12311-011-0310-1

By:

Degardin, Adrian;
Dobbelaere, Dries;
Vuillaume, Isabelle;
Defoort-Dhellemmes, Sabine;
Hurtevent, Jean-François;
Sablonnière, Bernard;
Destée, Alain;
Defebvre, Luc;
Devos, David

Publication type:

Article

Motor neuron pathology in CANVAS due to RFC1 expansions.

Published in:

2022

By:

Huin, Vincent;
Coarelli, Giulia;
Guemy, Clément;
Boluda, Susana;
Debs, Rabab;
Mochel, Fanny;
Stojkovic, Tanya;
Grabli, David;
Maisonobe, Thierry;
Gaymard, Bertrand;
Lenglet, Timothée;
Tard, Céline;
Davion, Jean Baptiste;
Sablonnière, Bernard;
Monin, Marie Lorraine;
Ewenczyk, Claire;
Viala, Karine;
Charles, Perrine;
Ber, Isabelle Le;
Reilly, Mary M

Publication type:

journal article

Reply: Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.

Published in:

2015

By:

Sablonnière, Bernard

Publication type:

journal article

Ceruloplasmin activity and iron chelation treatment of patients with Parkinson's disease.

Published in:

BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0331-3

By:

Grolez, Guillaume;
Moreau, Caroline;
Sablonnière, Bernard;
Garçon, Guillaume;
Devedjian, Jean-Christophe;
Meguig, Sayah;
Gelé, Patrick;
Delmaire, Christine;
Bordet, Regis;
Defebvre, Luc;
Cabantchik, Ioav Z.;
Devos, David

Publication type:

Article

Ceruloplasmin activity and iron chelation treatment of patients with Parkinson's disease.

Published in:

2015

By:

Grolez, Guillaume;
Moreau, Caroline;
Sablonnière, Bernard;
Garçon, Guillaume;
Devedjian, Jean-Christophe;
Meguig, Sayah;
Gelé, Patrick;
Delmaire, Christine;
Bordet, Regis;
Defebvre, Luc;
Cabantchik, Ioav Z;
Devos, David

Publication type:

journal article

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.

Published in:

Annals of Neurology, 2002, v. 52, n. 5, p. 666, doi. 10.1002/ana.10344

By:

Vuillaume, Isabelle;
Devos, David;
Schraen-Maschke, Susanna;
Dina, Christian;
Lemainque, Arnaud;
Vasseur, Francis;
Bocquillon, Guy;
Devos, Patrick;
Kocinski, Carole;
Marzys, Christiane;
Destée, Alain;
Sablonnière, Bernard

Publication type:

Article

Impact of harmonization of collection tubes on Alzheimer's disease diagnosis.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, n. 5, p. S390, doi. 10.1016/j.jalz.2013.06.008

By:

Lehmann, Sylvain;
Schraen, Susanna;
Quadrio, Isabelle;
Paquet, Claire;
Bombois, Stéphanie;
Delaby, Constance;
Dorey, Aline;
Dumurgier, Julien;
Hirtz, Christophe;
Krolak-Salmon, Pierre;
Laplanche, Jean-Louis;
Moreaud, Olivier;
Peoc'h, Katell;
Rouaud, Olivier;
Sablonnière, Bernard;
Thouvenot, Eric;
Touchon, Jacques;
Vercruysse, Olivier;
Hugon, Jacques;
Gabelle, Audrey

Publication type:

Article

Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 19, p. 2143, doi. 10.1093/hmg/10.19.2143

By:

Sergeant, Nicolas;
Sablonnière, Bernard;
Schraen-Maschke, Suzanna;
Ghestem, Antoine;
Maurage, Claude-Alain;
Wattez, Annick;
Vermersch, Patrick;
Delacourte, André

Publication type:

Article

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1198, doi. 10.1038/ejhg.2011.95

By:

Ghoumid, Jamal;
Andrieux, Joris;
Sablonnière, Bernard;
Odent, Sylvie;
Philippe, Nathalie;
Zanlonghi, Xavier;
Saugier-Veber, Pascale;
Bardyn, Thomas;
Manouvrier-Hanu, Sylvie;
Holder-Espinasse, Muriel

Publication type:

Article

Altered splicing of Tau in DM1 is different from the foetal splicing process

Published in:

FEBS Letters, 2009, v. 583, n. 4, p. 675, doi. 10.1016/j.febslet.2008.12.065

By:

Ghanem, Dana;
Tran, Hélène;
Dhaenens, Claire-Marie;
Schraen-Maschke, Suzanna;
Sablonnière, Bernard;
Buée, Luc;
Sergeant, Nicolas;
Caillet-Boudin, Marie-Laure

Publication type:

Article

Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients.

Published in:

Muscle & Nerve, 2011, v. 43, n. 1, p. 26, doi. 10.1002/mus.21832

By:

Petit, Florence;
Cuisset, Jean-Marie;
Rouaix-Emery, Nathalie;
Cancés, Claude;
Sablonnière, Bernard;
Bieth, Eric;
Moerman, Alexandre;
Sukno, Sylvie;
Hardy, Noah;
Holder-Espinasse, Muriel;
Manouvrier-Hanu, Sylvie;
Vallée, Louis

Publication type:

Article

Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson′s Disease.

Published in:

Movement Disorders, 2022, v. 37, n. 8, p. 1761, doi. 10.1002/mds.29124

By:

Coku, Ilda;
Mutez, Eugénie;
Eddarkaoui, Sabiha;
Carrier, Sébastien;
Marchand, Antoine;
Deldycke, Claire;
Goveas, Liesel;
Baille, Guillaume;
Tir, Mélissa;
Magnez, Romain;
Thuru, Xavier;
Vermeersch, Gaëlle;
Vandenberghe, Wim;
Buée, Luc;
Defebvre, Luc;
Sablonnière, Bernard;
Chartier‐Harlin, Marie‐Christine;
Taymans, Jean‐Marc;
Huin, Vincent

Publication type:

Article

Cerebrospinal fluid amyloid-β 42/40 ratio in clinical setting of memory centers: a multicentric study.

Published in:

Alzheimer's Research & Therapy, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13195-015-0114-5

By:

Dumurgier, Julien;
Schraen, Susanna;
Gabelle, Audrey;
Vercruysse, Olivier;
Bombois, Stéphanie;
Laplanche, Jean-Louis;
Peoc'h, Katell;
Sablonnière, Bernard;
Kastanenka, Ksenia V.;
Delaby, Constance;
Pasquier, Florence;
Touchon, Jacques;
Hugon, Jacques;
Paquet, Claire;
Lehmann, Sylvain

Publication type:

Article

A diagnostic scale for Alzheimer's disease based on cerebrospinal fluid biomarker profiles.

Published in:

Alzheimer's Research & Therapy, 2014, v. 6, n. 3, p. 1, doi. 10.1186/alzrt267

By:

Lehmann, Sylvain;
Dumurgier, Julien;
Schraen, Susanna;
Wallon, David;
Blanc, Frédéric;
Magnin, Eloi;
Bombois, Stéphanie;
Bousiges, Olivier;
Campion, Dominique;
Cretin, Benjamin;
Delaby, Constance;
Hannequin, Didier;
Jung, Barbara;
Hugon, Jacques;
Laplanche, Jean-Louis;
Miguet-Alfonsi, Carole;
Peoc'h, Katell;
Philippi, Nathalie;
Quillard-Muraine, Muriel;
Sablonnière, Bernard

Publication type:

Article

N‐homocysteinylation of tau and MAP1 is increased in autopsy specimens of Alzheimer's disease and vascular dementia.

Published in:

Journal of Pathology, 2019, v. 248, n. 3, p. 291, doi. 10.1002/path.5254

By:

Bossenmeyer‐Pourié, Carine;
Smith, A David;
Lehmann, Sylvain;
Deramecourt, Vincent;
Sablonnière, Bernard;
Camadro, Jean‐Michel;
Pourié, Grégory;
Kerek, Racha;
Helle, Deborah;
Umoret, Remy;
Guéant‐Rodriguez, Rosa‐Maria;
Rigau, Valérie;
Gabelle, Audrey;
Sequeira, Jeffrey M;
Quadros, Edward V;
Daval, Jean‐Luc;
Guéant, Jean‐Louis

Publication type:

Article

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

Published in:

Journal of Neurology, 2013, v. 260, n. 4, p. 998, doi. 10.1007/s00415-012-6740-y

By:

Huin, Vincent;
Vasseur, Francis;
Schraen-Maschke, Susanna;
Dhaenens, Claire-Marie;
Devos, Patrick;
Dupont, Kathy;
Sergeant, Nicolas;
Buée, Luc;
Lacour, Arnaud;
Hofmann-Radvanyi, Hélène;
Sablonnière, Bernard

Publication type:

Article

Attenuated presentation of ataxia-telangiectasia with familial cancer history.

Published in:

Journal of Neurology, 2008, v. 255, n. 8, p. 1261, doi. 10.1007/s00415-008-0857-z

By:

Simonin, Clémence;
Devos, David;
Vuillaume, Isabelle;
de Martinville, Bérengère;
Sablonnière, Bernard;
Destée, Alain;
Stoppa-Lyonnet, Dominique;
Defebvre, Luc

Publication type:

Article