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Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
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Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A

ABEL, Annette ; FONKNECHTEN, Nuria ; HAZAN, Jamilé ; HOFER, Anne ; DÜRR, Alexandra ; CRUAUD, Corinne ; VOIT, Thomas ; WEISSENBACH, Jean ; BRICE, Alexis ; KLIMPE, Sven ; AUBURGER, Georg

Neurogenetics, 2004-12, Vol.5 (4), p.239-243 [Revista revisada por pares]

Berlin: Springer

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2
Autosomal dominant cerebellar ataxia type I: Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3
Autosomal dominant cerebellar ataxia type I: Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3
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Autosomal dominant cerebellar ataxia type I: Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3

ABELE, M ; BÜRK, K ; ANDRES, F ; TOPKA, H ; LACCONE, F ; BÖSCH, S ; BRICE, A ; CANCEL, G ; DICHGANS, J ; KLOCKGETHER, T

Brain (London, England : 1878), 1997-12, Vol.120 (12), p.2141-2148 [Revista revisada por pares]

Oxford: Oxford University Press

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3
Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype Study in 200 Consecutively Recruited Individuals
Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype Study in 200 Consecutively Recruited Individuals
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Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype Study in 200 Consecutively Recruited Individuals

ADIB-SAMII, Poneh ; BRICE, Glen ; MARTIN, Roswell J ; MARKUS, Hugh S

Stroke (1970), 2010-04, Vol.41 (4), p.630-634 [Revista revisada por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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4
Drifting while stepping in place in old adults: association of self-motion perception with reference frame reliance and ground optic flow sensitivity
Drifting while stepping in place in old adults: association of self-motion perception with reference frame reliance and ground optic flow sensitivity
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Drifting while stepping in place in old adults: association of self-motion perception with reference frame reliance and ground optic flow sensitivity

Agathos, Catherine P ; Bernardin, Delphine ; Baranton, Konogan ; Assaiante, Christine ; Isableu, Brice

Neuroscience, 2017-04, Vol.347, p.134-147 [Revista revisada por pares]

United States: Elsevier Ltd

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5
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice
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The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

Alves, Sandro ; Cormier-Dequaire, Florence ; Marinello, Martina ; Marais, Thibaut ; Muriel, Marie-Paule ; Beaumatin, Florian ; Charbonnier-Beaupel, Fanny ; Tahiri, Khadija ; Seilhean, Danielle ; El Hachimi, Khalid ; Ruberg, Merle ; Stevanin, Giovanni ; Barkats, Martine ; den Dunnen, Wilfred ; Priault, Muriel ; Brice, Alexis ; Durr, Alexandra ; Corvol, Jean-Christophe ; Sittler, Annie

Acta neuropathologica, 2014-11, Vol.128 (5), p.705-722 [Revista revisada por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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6
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Anheim, M. ; Monga, B. ; Fleury, M. ; Charles, P. ; Barbot, C. ; Salih, M. ; Delaunoy, J. P. ; Fritsch, M. ; Arning, L. ; Synofzik, M. ; Schöls, L. ; Sequeiros, J. ; Goizet, C. ; Marelli, C. ; Le Ber, I. ; Koht, J. ; Gazulla, J. ; De Bleecker, J. ; Mukhtar, M. ; Drouot, N. ; Ali-Pacha, L. ; Benhassine, T. ; Chbicheb, M. ; M’Zahem, A. ; Hamri, A. ; Chabrol, B. ; Pouget, J. ; Murphy, R. ; Watanabe, M. ; Coutinho, P. ; Tazir, M. ; Durr, A. ; Brice, A. ; Tranchant, C. ; Koenig, M.

Brain (London, England : 1878), 2009-10, Vol.132 (10), p.2688-2698 [Revista revisada por pares]

Oxford: Oxford University Press

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7
Exonic Deletions of FXN and Early-Onset Friedreich Ataxia
Exonic Deletions of FXN and Early-Onset Friedreich Ataxia
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Exonic Deletions of FXN and Early-Onset Friedreich Ataxia

Anheim, Mathieu ; Mariani, Louise-Laure ; Calvas, Patrick ; Cheuret, Emmanuel ; Zagnoli, Fabien ; Odent, Sylvie ; Seguela, Claire ; Marelli, Cecilia ; Fritsch, Marlène ; Delaunoy, Jean-Pierre ; Brice, Alexis ; Dürr, Alexandra ; Koenig, Michel

Archives of neurology (Chicago), 2012-07, Vol.69 (7), p.912-916

Chicago, IL: American Medical Association

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8
FXTAS: New insights and the need for revised diagnostic criteria
FXTAS: New insights and the need for revised diagnostic criteria
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FXTAS: New insights and the need for revised diagnostic criteria

APARTIS, Emmanuelle ; BLANCHER, Anne ; WANG, Adrien ; TISON, François ; ROUE-JAGOT, Carole ; SEDEL, Frederic ; CHARLES, Perrine ; WHALEN, Sandra ; HERON, Delphine ; THOBOIS, Stephane ; POISSON, Alice ; LESCA, Gaetan ; MEISSNER, Wassilios G ; OUVRARD-HERNANDEZ, Anne-Marie ; FRAIX, Valérie ; PALFI, Stephane ; HABERT, Marie-Odile ; GAYMARD, Bertrand ; DUSSAULE, Jean-Claude ; POLLAK, Pierre ; VIDAILHET, Marie ; DURR, Alexandra ; BARBOT, Jean-Claude ; GUYANT-MARECHAL, Lucie ; GOURLET, Veronique ; BRICE, Alexis ; ANHEIM, Mathieu ; MALTETE, David ; DE BROUCKER, Thomas ; LEGRAND, Andre-Pierre ; BOUZENADA, Hichem ; TRAN THANH, Hung ; SALLANSONNET-FROMENT, Magali

Neurology, 2012-10, Vol.79 (18), p.1898-1907 [Revista revisada por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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9
A Geographic Information System Analysis of the Impact of a Statewide Acute Stroke Emergency Medical Services Routing Protocol on Community Hospital Bypass
A Geographic Information System Analysis of the Impact of a Statewide Acute Stroke Emergency Medical Services Routing Protocol on Community Hospital Bypass
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A Geographic Information System Analysis of the Impact of a Statewide Acute Stroke Emergency Medical Services Routing Protocol on Community Hospital Bypass

Asimos, Andrew W., MD ; Ward, Shana, MSPH ; Brice, Jane H., MD, MPH ; Enright, Dianne, GISP ; Rosamond, Wayne D., PhD ; Goldstein, Larry B., MD ; Studnek, Jonathan, PhD

Journal of stroke and cerebrovascular diseases, 2014-11, Vol.23 (10), p.2800-2808 [Revista revisada por pares]

United States: Elsevier Inc

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10
Myoclonus-dystonia syndrome: ε-sarcoglycan mutations and phenotype
Myoclonus-dystonia syndrome: ε-sarcoglycan mutations and phenotype
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Myoclonus-dystonia syndrome: ε-sarcoglycan mutations and phenotype

Asmus, Friedrich ; Zimprich, Alexander ; Tezenas Du Montcel, Sophie ; Kabus, Christian ; Deuschl, Günther ; Kupsch, Andreas ; Ziemann, Ulf ; Castro, Mirna ; Kühn, Andrea A. ; Strom, Tim M. ; Vidailhet, Marie ; Bhatia, Kailash P. ; Dürr, Alexandra ; Wood, Nicholas W. ; Brice, Alexis ; Gasser, Thomas

Annals of neurology, 2002-10, Vol.52 (4), p.489-492 [Revista revisada por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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