Prenatal Testing for Late Infantile Neuronal Ceroid Lipofuscinosis (Englisch)
- Neue Suche nach: Berry-Kravis, E.
- Neue Suche nach: Sleat, D. E.
- Neue Suche nach: Sohar, I.
- Neue Suche nach: Meyer, P.
- Neue Suche nach: Donnelly, R.
- Neue Suche nach: Lobel, P.
- Neue Suche nach: Berry-Kravis, E.
- Neue Suche nach: Sleat, D. E.
- Neue Suche nach: Sohar, I.
- Neue Suche nach: Meyer, P.
- Neue Suche nach: Donnelly, R.
- Neue Suche nach: Lobel, P.
In:
ANNALS OF NEUROLOGY
;
47
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254-256
;
2000
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ISSN:
- Aufsatz (Zeitschrift) / Print
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Titel:Prenatal Testing for Late Infantile Neuronal Ceroid Lipofuscinosis
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Beteiligte:Berry-Kravis, E. ( Autor:in ) / Sleat, D. E. ( Autor:in ) / Sohar, I. ( Autor:in ) / Meyer, P. ( Autor:in ) / Donnelly, R. ( Autor:in ) / Lobel, P. ( Autor:in )
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Erschienen in:ANNALS OF NEUROLOGY ; 47 ; 254-256
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Verlag:
- Neue Suche nach: LITTLE BROWN AND COMPANY
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Erscheinungsdatum:01.01.2000
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Format / Umfang:3 pages
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ISSN:
-
Medientyp:Aufsatz (Zeitschrift)
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Format:Print
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Sprache:Englisch
- Neue Suche nach: 616.8005 / 161
- Weitere Informationen zu Dewey Decimal Classification
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Klassifikation:
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Datenquelle:
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Dopa-Responsive Dystonia due to a Large Deletion in the GTP Cyclohydrolase I GeneFurukawa, Y. / Guttman, M. / Sparagana, S. P. / Trugman, J. M. / Hyland, K. / Wyatt, P. / Lang, A. E. / Rouleau, G. A. / Shimadzu, M. / Kish, S. J. et al. | 2000
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Synphilin-1 Is Present in Lewy Bodies in Parkinson's DiseaseWakabayashi, K. / Engelender, S. / Yoshimoto, M. / Tsuji, S. / Ross, C. A. / Takahashi, H. et al. | 2000
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Nitration of Manganese Superoxide Dismutase in Cerebrospinal Fluids Is a Marker for Peroxynitrite-Mediated Oxidative Stress in Neurodegenerative DiseasesAoyama, K. / Matsubara, K. / Fujikawa, Y. / Nagahiro, Y. / Shimizu, K. / Umegae, N. / Hayase, N. / Shiono, H. / Kobayashi, S. et al. | 2000
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A Single Nucleotide Polymorphism of Dopamine Transporter Gene Is Associated with Parkinson's DiseaseMorino, H. / Kawarai, T. / Izumi, Y. / Kazuta, T. / Oda, M. / Komure, O. / Udaka, F. / Kameyama, M. / Nakamura, S. / Kawakami, H. et al. | 2000
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A Novel Congenital Myopathy with Apoptotic ChangesIkezoe, K. / Yan, C. / Momoi, T. / Imoto, C. / Minami, N. / Ariga, M. / Nihei, K. / Nonaka, I. et al. | 2000
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Novel Missense Mutations in the Glycogen-Branching Enzyme Gene in Adult Polyglucosan Body DiseaseZiemssen, F. / Sindern, E. / Schroder, J. M. / Shin, Y. S. / Zange, J. / Kilimann, M. W. / Jean-Pierre, M. / Vorgerd, M. et al. | 2000
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Mental Retardation and Behavioral Problems as Presenting Signs of a Creatine Synthesis Defectvan der Knaap, M. S. / Verhoeven, N. M. / Maaswinkel-Mooij, P. / Pouwels, P. J. / Onkenhout, W. / Peeters, E. A. / Stockler-Ipsiroglu, S. / Jakobs, C. et al. | 2000
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Inclusion Body Myositis, Muscle Blood Vessel and Cardiac Amyloidosis, and Transthyretin Val122Ile AlleleAskanas, V. / Engel, W. K. / Alvarez, R. B. / Frangione, B. / Ghiso, J. / Vidal, R. et al. | 2000
- 550
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Valproate for Girls with EpilepsyBalen, A. H. / Genton, P. et al. | 2000
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Neuronal Intranuclear Inclusions in Spinocerebellar Ataxia Type 2Koyano, S. / Uchihara, T. / Fujigasaki, H. / Nakamura, A. / Yagishita, S. / Iwabuchi, K. et al. | 2000
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Simvastin and Plasma Very-Long-Chain Fatty Acids in X-Linked AdrenoleukodystrophyVerrips, A. / Willemsen, M. A. / Rubino-Gozalbo, E. / De Jong, J. / Smeitink, J. A. et al. | 2000
- 553
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Mirror Agnosia: The Ramachandran SignAltschuler, E. L. et al. | 2000
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The Hippocampal Sclerosis Whodunit: Enter the GenesBerkovic, S. F. / Jackson, G. D. et al. | 2000
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New Magnetic Resonance Imaging Methods for Cerebrovascular Disease: Emerging Clinical ApplicationsNeumann-Haefelin, T. / Moseley, M. E. / Albers, G. W. et al. | 2000
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Interleukin (IL)-1beta, IL-1alpha, and IL-1 Receptor Antagonist Gene Polymorphisms in Patients with Temporal Lobe EpilepsyKanemoto, K. / Kawasaki, J. / Miyamoto, T. / Obayashi, H. / Nishimura, M. et al. | 2000
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Diagnosis of New Variant Creutzfeldt-Jakob DiseaseWill, R. G. / Zeidler, M. / Stewart, G. E. / Macleod, M. A. / Ironside, J. W. / Cousens, S. N. / Mackenzie, J. / Estibeiro, K. / Green, A. J. / Knight, R. S. et al. | 2000
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Fumaric Aciduria: Clinical and Imaging FeaturesKerrigan, J. F. / Aleck, K. A. / Tarby, T. J. / Bird, C. R. / Heidenreich, R. A. et al. | 2000
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Differential Features of Patients with Mutations in Two COX Assembly Genes, SURF-1 and SCO2Sue, C. M. / Karadimas, C. / Checcarelli, N. / Tanji, K. / Papadopoulou, L. C. / Pallotti, F. / Guo, F. L. / Shanske, S. / Hirano, M. / De Vivo, D. C. et al. | 2000
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Functional Motor Unit Failure Precedes Neuromuscular Degeneration in Canine Motor Neuron DiseaseBalice-Gordon, R. J. / Smith, D. B. / Goldman, J. / Cork, L. C. / Shirley, A. / Cope, T. C. / Pinter, M. J. et al. | 2000
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The Motor Cortex Shows Adaptive Functional Changes to Brain Injury from Multiple SclerosisLee, M. / Reddy, H. / Johansen-Berg, H. / Pendlebury, S. / Jenkinson, M. / Smith, S. / Palace, D. J. / Matthews, P. M. et al. | 2000
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An Association between Migraine and Cutaneous AllodyniaBurstein, R. / Yarnitsky, D. / Goor-Aryeh, I. / Ransil, B. J. / Bajwa, Z. H. et al. | 2000
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Three Novel Mutations (G27E, insAAC, R179X) in the ORNT1 Gene of Japanese Patients with Hyperornithinemia, Hyperammonemia, and Homocitrullinuria SyndromeTsujino, S. / Kanazawa, N. / Ohashi, T. / Eto, Y. / Saito, T. / Jun-ichi, K. / Yamada, T. et al. | 2000
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alpha-Synuclein and Parkinson's Disease: Selective Neurodegenerative Effect of alpha-Synuclein Fragment on Dopaminergic Neurons In Vitro and In VivoForloni, G. / Bertani, I. / Calella, A. M. / Thaler, F. / Invernizzi, R. et al. | 2000
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Glutamate Uptake Is Decreased in Platelets from Alzheimer's Disease PatientsFerrarese, C. / Begni, B. / Canevari, C. / Zoia, C. / Piolti, R. / Frigo, M. / Appollonio, I. / Frattola, L. et al. | 2000
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Benzodiazepine Receptor Binding in Huntington's Disease: [^1^1C]Flumazenil Uptake Measured Using Positron Emission TomographyKiinig, G. / Leenders, K. L. / Sanchez-Pernaute, R. / Antonini, A. / Vontobel, P. / Verhagen, A. / Gunther, I. et al. | 2000
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Serum Elastase Activity Is Elevated in MigraineTzourio, C. / Amrani, M. E. / Robert, L. / Alperovitch, A. et al. | 2000
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Evidence for Infection with Chlamydia pneumoniae in a Subgroup of Patients with Multiple SclerosisLayh-Schmitt, G. / Bendl, C. / IIildt, U. / Dong-Si, T. / Juttler, E. / Schnitzler, P. / Grond-Ginsbach, C. / Grau, A. J. et al. | 2000
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Levodopa-Induced Dyskinesias in Parkinson's Disease: Is Sensitization Reversible?Boulos-Paul, B. / Arnulf, I. / Demeret, S. / Damier, P. / Anne-Marie, B. / Jean-Luc, H. / Agid, Y. et al. | 2000
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Increased Serum Transferrin Receptor Concentrations in Friedreich AtaxiaWilson, R. B. / Lynch, D. R. / Farmer, J. M. / Brooks, D. G. / Fischbeck, K. H. et al. | 2000
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Motor Benefit from Levodopa in Spastic Quadriplegic Cerebral PalsyBrunstrom, J. E. / Bastian, A. J. / Wong, M. / Mink, J. W. et al. | 2000
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X-Linked Vacuolar Myopathies: Two Separate Loci and Refined Genetic MappingAuranen, M. / Villanova, M. / Muntoni, F. / Fardean, M. / Scherer, S. W. / Kalino, H. / Minassian, B. A. et al. | 2000
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Influence of Mutation Type and X Chromosome Inactivation on Rett Syndrome PhenotypesAmir, R. E. / Van de Veyver, I. B. / Schultz, R. / Malicki, D. M. / Tran, C. Q. / Dahle, E. J. / Timar, L. / Philippi, A. / Percy, A. K. / Motil, K. J. et al. | 2000
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In Vitro Glatiramer Acetate Treatment of Brain Endothelium Does Not Reduce Adhesion PhenomenaDufour, A. / Corsini, E. / Gelati, M. / Massa, G. / Tarcic, N. / Salmaggi, A. et al. | 2000
- 682
-
The Role of Inheritance in Sporadic Parkinson's DiseaseHawkes, C. et al. | 2000
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Association of Primary Central Nervous System Lymphoma with Long-Term Azathioprine Therapy for Myasthenia Gravis?Herrlinger, U. / Weller, M. / Dichgans, J. / Melms, A. et al. | 2000
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14-3-3 Cerebrospinal Fluid Protein and Creutzfeldt-Jakob DiseaseZeidler, M. et al. | 2000
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Circulating Antiganglioside Antibodies Are Not Associated with the Development of Progressive Disease or Cerebral Atrophy in Patients with Multiple SclerosisGiovannoni, G. / Morris, P. R. / Keir, G. et al. | 2000
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-
Effect of Glatiramer Acetate (Copaxone) Given Orally in Human Patients: Interleukin-10 Production During a Phase 1 Trialde Seze, J. / Edan, G. / Labalette, M. / Dessaint, J. P. / Vermersch, P. et al. | 2000
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-
No Association between the NOS3 Codon 298 Polymorphism and Alzheimer's Disease in a Sample from the United StatesCrawford, F. / Freeman, M. / Abdullah, L. / Schinka, J. / Gold, M. / Duara, R. / Mullan, M. et al. | 2000
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-
Mutations in the Neuroserpin Gene Are Rare in Familial Dementia| 2000
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Understanding Multiple Sclerosis: Lessons from PathologyLudwin, S. K. et al. | 2000
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-
The Role of B Cells and Autoantibodies in Multiple SclerosisArchelos, J. J. / Maria, K. S. / Hans-Peter, H. et al. | 2000
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Heterogeneity of Multiple Sclerosis Lesions: Implications for the Pathogenesis of DemyelinationLucchinetti, C. / Bruck, W. / Parisi, J. / Scheithauer, B. / Rodriguez, M. / Lassman, H. et al. | 2000
- 718
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Regional Brain Atrophy in Progressive Supranuclear Palsy and Lewy Body DiseaseCordato, N. J. / Halliday, G. M. / Harding, A. J. / Hely, M. A. / Morris, J. G. L. et al. | 2000
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Neonatal Seizures Induced Persistent Changes in Intrinsic Properties of CA1 Rat Hippocampal CellsVilleneuve, N. / Ben-Ari, Y. / Holmes, G. L. / Gaiarsa, J.-L. et al. | 2000
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-
Apolipoprotein E Facilitates Neuritic and Cerebrovascular Plaque Formation in an Alzheimer's Disease ModelHoltzman, D. M. / Fagan, A. M. / Mackey, B. / Tenkova, T. / Sartorius, L. / Paul, S. M. / Bales, K. / Ashe, K. H. / Irizarry, M. C. / Hyman, B. T. et al. | 2000
- 748
-
Hemorrhagic Complications in Vein of Galen MalformationsMeyers, P. M. / Van Halbach, V. / Phatouros, C. P. / Dowd, C. F. / Malek, A. M. / Lempert, T. E. / Lefler, J. E. / Higashida, R. T. et al. | 2000
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Fukutin Protein Is Expressed in Neurons of the Normal Developing Human Brain but Is Reduced in Fukuyama-Type Congenital Muscular Dystrophy BrainSaito, Y. / Mizuguchi, M. / Oka, A. / Takashima, S. et al. | 2000
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Passive Transfer of Demyelination by Serum or IgG from Chronic Inflammatory Demyelinating Polyneuropathy PatientsYan, W. X. / Taylor, J. / Andrias-Kauba, S. / Pollard, J. D. et al. | 2000
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-
Clinical and Biochemical Characteristics of Congenital Disorder of Glycosylation Type Ic, the First Recognized Endoplasmic Reticulum Defect in N-Glycan SynthesisGrunewald, S. / Imbach, T. / Huijben, K. / Rubio-Gozalbo, M. F. / Verrips, A. / de Klerk, J. B. C. / Stroink, H. / Rijk-van Andel, J. F. d. / Van Hove, J. L. K. / Wendel, U. et al. | 2000
- 782
-
Mice Overexpressing Rat Heat Shock Protein 70 Are Protected against Cerebral InfarctionRajdev, S. / Hara, K. / Kokubo, Y. / Mestril, R. / Dillmann, W. / Weinstein, P. R. / Sharp, F. R. et al. | 2000
- 792
-
Mitochondrial Neurogastrointestinal Encephalomyopathy: An Autosomal Recessive Disorder due to Thymidine Phosphorylase MutationsNishino, I. / Spinazzola, A. / Papadimitriou, A. / Hammans, S. / Steiner, I. / Hahn, C. D. / Connolly, A. M. / Verloes, A. / Guimaraes, J. / Maillard, I. et al. | 2000
- 801
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Decreased Cerebrospinal Fluid Levels of beta-Phenylethylamine in Patients with Rett SyndromeSatoi, M. / Matsuishi, T. / Yamada, S. / Yamashita, Y. / Ohtaki, E. / Mori, K. / Riikonen, R. / Kato, H. / Percy, A. K. et al. | 2000
- 804
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Progression in Parkinson's Disease: A Positron Emission Tomography Study with a Dopamine Transporter Ligand [^1^8F]CFTNurmi, E. / Ruottinen, H. M. / Kaasinen, V. / Bergman, J. / Haaparanta, M. / Solin, O. / Rinne, J. O. et al. | 2000
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Myelin Widenings and MGUS-IgA: An Immunoelectron Microscopic StudyVallat, J.-M. / Tabaraud, F. / Sindou, P. / Preux, P.-M. / Vandenberghe, A. / Steck, A. et al. | 2000
- 811
-
Partial Laminin alpha2 Chain Deficiency in a Patient with Myopathy Resembling Inclusion Body MyositisDi Blasi, C. / Mora, M. / Pareyson, D. / Farina, L. / Sghirlanzoni, A. / Vignier, N. / Blasevich, F. / Cornelio, F. / Guicheney, P. / Morandi, L. et al. | 2000
- 816
-
Rapid Clearance of Human Immunodeficiency Virus Type 1 from Ventricular Cerebrospinal Fluid during Antiretroviral TreatmentEggers, C. / Stuerenburg, H. J. / Schafft, T. / Zollner, B. / Feucht, H. H. / Stellbrink, H. J. / van Lunzen, J. et al. | 2000
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-
A Common Mechanism for the Control of Eye and Head Movements in HumansGaymard, B. / Siegler, I. / Rivaud-Pechoux, S. / Israel, I. / Pierrot-Deseilligny, C. / Berthoz, A. et al. | 2000
- 822
-
A Novel Mutation of KCNQ3 (c.925T→C) in a Japanese Family with Benign Familial Neonatal ConvulsionsHirose, S. / Zenri, F. / Akiyoshi, H. / Fukuma, G. / Iwata, H. / Inoue, T. / Yonetani, M. / Tsutsumi, M. / Muranaka, H. / Kurokawa, T. et al. | 2000
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-
Changes of Copper-Transporting Proteins and Ceruloplasmin in the Lentiform Nuclei in Primary Adult-Onset DystoniaBerg, D. / Weishaupt, A. / Francis, M. J. / Miura, N. / Yang, X.-L. / Goodyer, I. D. / Naumann, M. / Koltzenburg, M. / Reiners, K. / Becker, G. et al. | 2000
- 831
-
Diagnostic Criteria for Primary Progressive Multiple Sclerosis: A Position PaperThompson, A. J. / Montalban, X. / Barkhof, F. / Brochet, B. / Filippi, M. / Miller, D. H. / Polman, C. H. / Stevenson, V. L. / McDonald, W. I. et al. | 2000
- 836
-
Rapid Diagnosis of Peroxisome Biogenesis Disorders through Immunofluorescence Staining of Buccal SmearsZhang, Z. / Suzuki, Y. / Shimozawa, N. / Kondo, N. et al. | 2000
- 836
-
Spanish Families with Cerebral Cavernous Angioma Do Not Bear the 742C→T Hispanic American Mutation of the KRIT1 GeneLucas, M. / Solano, F. / Zayas, M. D. / Garcia-Moreno, J. M. / Gamero, M. A. / Costa, A. F. / Izquierdo, G. et al. | 2000
- 837
-
Topiramate and Essential TremorGalvez-Jimenez, N. / Hargreave, M. et al. | 2000
- 838
-
Magnetic Resonance Spectroscopy of Episodic Ataxia Type 2 and MigraineMontagna, P. / Cortelli, P. / Lodi, R. / Barbiroli, B. et al. | 2000
- 839
-
ReplySappey-Marinier, D. / Broussolle, E. / Vighetto, A. et al. | 2000
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-
Clinical Heterogenity in Pedigrees with 2q-Linked Febrile SeizuresMoulard, B. / Chaigne, D. / Malafosse, A. et al. | 2000
- 840
-
Locus for Febrile SeizuresScheffer, I. E. / Wallace, R. H. / Mulley, J. C. / Berkovic, S. F. et al. | 2000
- S2
-
The Specturm of Levodopa-Induced DyskinesiasFahn, S. et al. | 2000
- S12
-
Dopamine Receptors and Locomotor Responses: Molecular AspectsSealfon, S. C. et al. | 2000
- S22
-
Pathophysiology of Levodopa-Induced Dyskinesias in Parkinson's Disease: Problems with the Current ModelObeso, J. A. / Rodriguez-Oroz, M. C. / Rodriguez, M. / DeLong, M. R. / Olanow, C. W. et al. | 2000
- S35
-
Physiologic Basis of DyskinesiaFilion, M. et al. | 2000
- S42
-
Dopamine-Mediated Gene Regulation in Models of Parkinson's DiseaseGerfen, C. R. et al. | 2000
- S53
-
Patterns of Gene Expression and Behavior Induced by Chronic Dopamine TreatmentsCanales, J. J. / Graybiel, A. M. et al. | 2000
- S60
-
Levodopa-Induced Dyskinesia: A Pathological Form of Striatal Synaptic Plasticity?Calabresi, P. / Giacomini, P. / Centonze, D. / Bernardi, G. et al. | 2000
- S70
-
Molecular Basis of Levodopa-Induced DyskinesiasCalon, F. / Grondin, R. / Morissette, M. / Goulet, M. / Blanchet, P. J. / Di Paolo, T. / Bedard, P. J. et al. | 2000
- S79
-
Investigating Levodopa-Induced Dyskinesias in the Parkinsonian PrimateLangston, J. W. / Quik, M. / Petzinger, G. / Jakowec, M. / Di Monte, D. A. et al. | 2000
- S90
-
Factors Influencing the Onset and Persistence of Dyskinesia in MPTP-Treated PrimatesJenner, P. et al. | 2000
- S105
-
The Neural Mechanisms Underlying Levodopa-Induced Dyskinesia in Parkinson's DiseaseBrotchie, J. M. et al. | 2000
- S115
-
Nigrostriatal System Plasticity in Parkison's Disease: Effect of Dopaminergic Denervation and TreatmentHirsch, E. C. et al. | 2000
- S122
-
Striatal Mechanisms and Pathogenesis of Parkinsonian Signs and Motor ComplicationsChase, T. N. / Oh, J. D. et al. | 2000
- S131
-
Physiology of Hypokinetic and Hyperkinetic Movement Disorders: Model for DyskinesiaVitek, J. L. / Giroux, M. et al. | 2000
- S141
-
Neuronal Recordings in Parkinson's Disease Patients with Dyskinesias Induced by ApomorphineLozano, A. M. / Lang, A. E. / Levy, R. / Hutchison, W. / Dostrovsky, J. et al. | 2000
- S147
-
Clinical Physiology of Dopa DyskinesiaHallett, M. et al. | 2000
- S154
-
Neuroimaging of DyskinesiaBrooks, D. J. / Piccini, P. / Turjanski, N. / Samuel, M. et al. | 2000
- S160
-
Clinical Pharmacology of Levodopa-Induced DyskinesiaNutt, J. G. et al. | 2000
- S167
-
Preventing Levodopa-Induced DyskinesiasOlanow, C. W. / Obeso, J. A. et al. | 2000
- S179
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Medical Treatment of Levodopa-Induced DyskinesiasRascol, O. et al. | 2000
- S189
-
Dyskinesias and the Subthalamic NucleusBenabid, A. L. / Benazzouz, A. / Limousin, P. / Koudsie, A. / Krack, P. / Piallat, B. / Pollak, P. et al. | 2000
- S193
-
Surgery for Levodopa-Induced DyskinesiasLang, A. F. et al. | 2000