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1
IDENTIFICATION OF VPS35 MUTATIONS REPLICATED IN FRENCH FAMILIES WITH PARKINSON DISEASE
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IDENTIFICATION OF VPS35 MUTATIONS REPLICATED IN FRENCH FAMILIES WITH PARKINSON DISEASE

LESAGE, S ; CONDROYER, C ; KLEBE, S ; HONORE, A ; TISON, F ; BREFEL-COURBON, C ; DIIRR, A ; BRICE, A

Neurology, 2012-05, Vol.78 (18), p.1449-1450 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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2
Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease
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Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

LE BER, I ; CAMUZAT, A ; HEATH, S ; CAMU, W ; MARTINAUD, O ; LACOMBLEZ, L ; VERCELLETTO, M ; SALACHAS, F ; SELLAL, F ; DIDIC, M ; THOMAS-ANTERION, C ; PUEL, M ; BERGER, E ; MICHEL, B.-F ; BESSE, C ; DUYCKAERTS, C ; MEININGER, V ; CAMPION, D ; DUBOIS, B ; BRICE, A ; HANNEQUIN, D ; LAQUERRIERE, A ; GOLFIER, V ; SEILHEAN, D ; VIENNET, G ; COURATIER, P ; VERPILLAT, P

Neurology, 2009-05, Vol.72 (19), p.1669-1676 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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3
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
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Artigo
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Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

CHARLES, P ; CAMUZAT, A ; BRICE, A ; BENAMMAR, N ; SELLAI, F ; DESTEE, A ; BONNET, A.-M ; LESAGE, S ; LE BER, I ; STEVANIN, G ; DURR, A

Neurology, 2007-11, Vol.69 (21), p.1970-1975 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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4
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1
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Artigo
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Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

LE BER, I ; DUBOURG, O ; BENOIST, J.-F ; JARDEL, C ; MOCHEL, F ; KOENIG, M ; BRICE, A ; LOMBES, A ; DÜRR, A

Neurology, 2007-01, Vol.68 (4), p.295-297 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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5
G51D α-synuclein mutation causes a novel Parkinsonian-pyramidal syndrome
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Artigo
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G51D α-synuclein mutation causes a novel Parkinsonian-pyramidal syndrome

Lesage, Suzanne ; Anheim, Mathieu ; Letournel, Franck ; Bousset, Luc ; Honoré, Aurélie ; Rozas, Nelly ; Pieri, Laura ; Madiona, Karine ; Dürr, Alexandra ; Melki, Ronald ; Verny, Christophe ; Brice, Alexis

Annals of neurology, 2013-04, Vol.73 (4), p.459-471 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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6
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study
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Artigo
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Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Nicholas, Jennifer ; Grossman, Murray ; McMillan, Corey T ; Massimo, Lauren ; Van Deerlin, Vivianna M ; Warren, Jason D ; Fox, Nick C ; Bocchetta, Martina ; Boeve, Bradley F ; Knopman, David S ; Rademakers, Rosa ; van Swieten, John C ; Meeter, Lieke H ; Dopper, Elise GP ; Snowden, Julie S ; Saxon, Jennifer ; Pickering-Brown, Stuart ; Le Ber, Isabelle ; Brice, Alexis ; Caroppo, Paola ; Ghidoni, Roberta ; Pievani, Michela ; Binetti, Giuliano ; Dickerson, Bradford C ; Lucente, Diane ; Graff, Caroline ; Ghoshal, Nupur ; Galimberti, Daniela ; Scarpini, Elio ; Mackenzie, Ian R ; Hsiung, Ging-Yuek R ; Sengdy, Pheth ; Boxer, Adam L ; Taylor, Joanne B ; Synofzik, Matthis ; Wilke, Carlo ; Sulzer, Patricia ; Kwok, John ; Lladó, Albert ; Borrego-Ecija, Sergi ; Santana, Isabel ; Almeida, Maria Rosário ; Tábuas-Pereira, Miguel ; Moreno, Fermin ; Barandiaran, Myriam ; Indakoetxea, Begoña ; Levin, Johannes ; Danek, Adrian ; Rowe, James B ; Anderl-Straub, Sarah ; Masellis, Mario ; Black, Sandra E ; Lautrette, Geraldine ; Vandenberghe, Rik ; Rogalski, Emily J ; Weintraub, Sandra ; Gerhard, Alexander ; Onyike, Chiadi U ; Papageorgiou, Sokratis G ; Bras, Jose ; Rohrer, Jonathan D ; Heller, Carolin ; Convery, Rhian S ; Shafei, Rachelle M ; Jones, David T ; Baker, Matt ; Gavrilova, Ralitza ; Domoto-Reilly, Kimiko ; Poos, Jackie M ; Van der Ende, Emma L ; Panman, Jessica L ; Seelaar, Harro ; Fostinelli, Silvia ; Chiang, Huei-Hsin ; Arighi, Andrea ; Fenoglio, Chiara ; Heuer, Hilary ; Miller, Bruce ; Karydas, Anna ; Fong, Jamie ; João Leitão, Maria ; Santiago, Beatriz ; Ferreira, Carlos ; De Arriba, Maria ; Tainta, Mikel ; Zulaica, Miren ; Ferreira, Catarina ; Semler, Elisa ; Ludolph, Albert ; Miltenberger, Gabriel ; Rogaeva, Ekaterina ; Bruffaerts, Rose ; Vandenbulcke, Mathieu ; Mesulam, M Marsel ; Bigio, Eileen ; Kroupis, Christos ; Stefanis, Leonidas ; Shoesmith, Christien ; Robertson, Erik ; Geschwind, Daniel

Lancet neurology, 2020-02, Vol.19 (2), p.145-156 [Periódico revisado por pares]

England: Elsevier Ltd

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7
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's
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Artigo
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Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

Liu, Ganqiang ; Boot, Brendon ; Locascio, Joseph J. ; Jansen, Iris E. ; Winder-Rhodes, Sophie ; Eberly, Shirley ; Elbaz, Alexis ; Brice, Alexis ; Ravina, Bernard ; van Hilten, Jacobus J. ; Cormier-Dequaire, Florence ; Corvol, Jean-Christophe ; Barker, Roger A. ; Heutink, Peter ; Marinus, Johan ; Williams-Gray, Caroline H. ; Scherzer, Clemens R.

Annals of neurology, 2016-11, Vol.80 (5), p.674-685 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
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Artigo
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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

Benajiba, Lina ; Le Ber, Isabelle ; Camuzat, Agnès ; Lacoste, Mathieu ; Thomas-Anterion, Catherine ; Couratier, Philippe ; Legallic, Solenn ; Salachas, François ; Hannequin, Didier ; Decousus, Marielle ; Lacomblez, Lucette ; Guedj, Eric ; Golfier, Véronique ; Camu, William ; Dubois, Bruno ; Campion, Dominique ; Meininger, Vincent ; Brice, Alexis

Annals of neurology, 2009-04, Vol.65 (4), p.470-473 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications
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Artigo
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Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications

Saracino, Dario ; Dorgham, Karim ; Camuzat, Agnès ; Rinaldi, Daisy ; Rametti-Lacroux, Armelle ; Houot, Marion ; Clot, Fabienne ; Martin-Hardy, Philippe ; Jornea, Ludmila ; Azuar, Carole ; Migliaccio, Raffaella ; Pasquier, Florence ; Couratier, Philippe ; Auriacombe, Sophie ; Sauvée, Mathilde ; Boutoleau-Bretonnière, Claire ; Pariente, Jérémie ; Didic, Mira ; Hannequin, Didier ; Wallon, David ; Colliot, Olivier ; Dubois, Bruno ; Brice, Alexis ; Levy, Richard ; Forlani, Sylvie ; Le Ber, Isabelle ; Auriacombe, Sophie ; Belliard, Serge ; Blanc, Frédéric ; Boutoleau-Bretonnière, Claire ; Brice, Alexis ; Ceccaldi, Mathieu ; Couratier, Philippe ; Didic, Mira ; Dubois, Bruno ; Duyckaerts, Charles ; Etcharry-Bouyx, Frédérique ; Formaglio, Maïté ; Golfier, Véronique ; Hannequin, Didier ; Lacomblez, Lucette ; Ber, Isabelle Le ; Michel, Bernard-François ; Pariente, Jérémie ; Pasquier, Florence ; Rinaldi, Daisy ; Sauvée, Mathilde ; Sellal, François ; Thauvin-Robinet, Christel ; Thomas-Anterion, Catherine ; Vercelletto, Martine ; Auffray-Calvier, Elisabeth ; Bardinet, Eric ; Benchetrit, Eve ; Berry, Isabelle ; Bertin, Hugo ; Bertrand, Anne ; Bissery, Anne ; Bombois, Stéphanie ; Boncoeur, Marie-Paule ; Camuzat, Agnès ; Causse-Lemercier, Valérie ; Chastan, Mathieu ; Chen, Yaohua ; Chupin, Marie ; Colliot, Olivier ; Delbeuck, Xavier ; Delmaire, Christine ; Deramecourt, Vincent ; Funkiewiez, Aurélie ; Gerardin, Emmanuel ; Girard, Nadine ; Guedj, Eric ; Habert, Marie-Odile ; Kas, Aurélie ; Kuchinski, Gregory ; Lautrette, Géraldine ; Toullec, Benjamin Le ; Mackowiak, Marie-Anne ; Martinaud, Olivier ; Masmanian, Merry ; Monteil, Jacques ; Oya, Assi-Hervé ; Pallardy, Amandine ; Petyt, Grégory ; Payoux, Pierre ; Rollin-Sillaire, Adeline ; Sayah, Sabrina ; Wallon, David

Journal of neurology, neurosurgery and psychiatry, 2021-12, Vol.92 (12), p.1278-1288 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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10
Large-scale replication and heterogeneity in Parkinson disease genetic loci
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Artigo
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Large-scale replication and heterogeneity in Parkinson disease genetic loci

SHARMA, Manu ; IOANNIDIS, John P. A ; FACHERIS, Maurizio ; FARRER, Matthew ; GARRAUX, Gaetan ; GISPERT, Suzana ; AUBURGER, Georg ; VILARINO-GÜELL, Carles ; HADJIGEORGIOU, Georgios M ; HICKS, Andrew A ; HATTORI, Nobutaka ; JEON, Beom ; AASLY, Jan O ; LESAGE, Suzanne ; LILL, Christina M ; LIN, Juei-Jueng ; LYNCH, Timothy ; LICHTNER, Peter ; LANG, Anthony E ; MOK, Vincent ; JASINSKA-MYGA, Barbara ; MELLICK, George D ; MORRISON, Karen E ; ANNESI, Grazia ; OPALA, Grzegorz ; PRAMSTALLER, Peter P ; PICHLER, Irene ; SUNG SUP PARK ; QUATTRONE, Aldo ; ROGAEVA, Ekaterina ; ROSS, Owen A ; STEFANIS, Leonidas ; STOCKTON, Joanne D ; SATAKE, Wataru ; BRICE, Alexis ; SILBURN, Peter A ; THEUNS, Jessie ; TAN, Eng-King Tan ; TODA, Tatsushi ; TOMIYAMA, Hiroyuki ; UITTI, Ryan J ; WIRDEFELDT, Karin ; WSZOLEK, Zbigniew ; XIROMERISIOU, Georgia ; YUEH, Kuo-Chu ; VAN BROECKHOVEN, Christine ; YI ZHAO ; GASSER, Thomas ; MARAGANORE, Demetrius ; KRÜGER, Rejko ; BERTRAM, Lars ; BOZI, Maria ; CROSIERS, David ; CLARKE, Carl

Neurology, 2012-08, Vol.79 (7), p.659-667 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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