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1. Full Text Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
by Legati, Andrea and Giovannini, Donatella and Nicolas, Gaël and López-Sánchez, Uriel and Quintáns, Beatriz and Oliveira, João R M and Sears, Renee L and Ramos, Eliana Marisa and Spiteri, Elizabeth and Sobrido, María-Jesús and Carracedo, Ángel and Castro-Fernández, Cristina and Cubizolle, Stéphanie and Fogel, Brent L and Goizet, Cyril and Jen, Joanna C and Kirdlarp, Suppachok and Lang, Anthony E and Miedzybrodzka, Zosia and Mitarnun, Witoon and Paucar, Martin and Paulson, Henry and Pariente, Jérémie and Richard, Anne-Claire and Salins, Naomi S and Simpson, Sheila A and Striano, Pasquale and Svenningsson, Per and Tison, François and Unni, Vivek K and Vanakker, Olivier and Wessels, Marja W and Wetchaphanphesat, Suppachok and Yang, Michele and Boller, Francois and Campion, Dominique and Hannequin, Didier and Sitbon, Marc and Geschwind, Daniel H and Battini, Jean-Luc and Coppola, Giovanni
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 579 - 581
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions... 
DOMAIN-CONTAINING PROTEINS | HOMEOSTASIS | TRANSPORT | CELL-SURFACE RECEPTOR | GENE | BASAL GANGLIA CALCIFICATION | GENETICS & HEREDITY | RETROVIRUS | MURINE LEUKEMIA VIRUSES | MICE | Calcinosis - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Middle Aged | Male | Neurodegenerative Diseases - genetics | Mutation, Missense | Receptors, Virus - genetics | Lod Score | DNA Mutational Analysis | Pedigree | HEK293 Cells | Female | Receptors, G-Protein-Coupled - genetics | Brain Diseases, Metabolic, Inborn - genetics | Development and progression | Nervous system diseases | Genetic aspects | Gene mutations | Health aspects | Flow cytometry | Stroke | Genealogy | Medical imaging | Womens health | Calcification | Ligands | Mutation | Calcium phosphates | Life Sciences | Human health and pathology | Neurons and Cognition | Neurobiology | Genetics | Endocrinology and metabolism | Human genetics
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2. Full Text Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
by Bellenguez, Céline and Charbonnier, Camille and Grenier-Boley, Benjamin and Quenez, Olivier and Le Guennec, Kilan and Nicolas, Gaël and Chauhan, Ganesh and Wallon, David and Rousseau, Stéphane and Richard, Anne Claire and Boland, Anne and Bourque, Guillaume and Munter, Hans Markus and Olaso, Robert and Meyer, Vincent and Rollin-Sillaire, Adeline and Pasquier, Florence and Letenneur, Luc and Redon, Richard and Dartigues, Jean-François and Dartigues, Jean-Francois and Tzourio, Christophe and Frebourg, Thierry and Lathrop, Mark and Deleuze, Jean-François and Hannequin, Didier and Genin, Emmanuelle and Amouyel, Philippe and Debette, Stéphanie and Lambert, Jean-Charles and Campion, Dominique and Martinaud, Olivier and Zarea, Aline and Bombois, Stéphanie and Mackowiak, Marie-Anne and Deramecourt, Vincent and Michon, Agnès and Le Ber, Isabelle and Dubois, Bruno and Godefroy, Olivier and Etcharry-Bouyx, Frédérique and Chauviré, Valérie and Chamard, Ludivine and Berger, Eric and Magnin, Eloi and Auriacombe, Sophie and Tison, François and Sayette, Vincent de la and Castan, Dominique and Dionet, Elsa and Sellal, Francois and Rouaud, Olivier and Thauvin, Christel and Moreaud, Olivier and Sauvée, Mathilde and Formaglio, Maïté and Mollion, Hélène and Roullet-Solignac, Isabelle and Vighetto, Alain and Croisile, Bernard and Didic, Mira and Félician, Olivier and Koric, Lejla and Ceccaldi, Mathieu and Gabelle, Audrey and Marelli, Cecilia and Labauge, Pierre and Jonveaux, Thérèse and Vercelletto, Martine and Boutoleau-Bretonnière, Claire and Castelnovo, Giovanni and Paquet, Claire and Dumurgier, Julien and Hugon, Jacques and De Boisgueheneuc, Foucauld and Belliard, Serge and Bakchine, Serge and Sarazin, Marie and Barrellon, Marie-Odile and Laurent, Bernard and Blanc, Frédéric and Pariente, Jérémie and Jurici, Snejana and CNR MAJ Collaborators and CNR MAJ collaborators
Neurobiology of Aging, ISSN 0197-4580, 11/2017, Volume 59, pp. 220.e1 - 220.e9
We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer disease (LOAD) cases, 852 early-onset AD (EOAD) cases, and 1273 controls from... 
ABCA7 | TREM2 | SORL1 | Alzheimer's disease | COMMON VARIANTS | DIAGNOSIS | DEMENTIA | OF-FUNCTION VARIANTS | NEUROSCIENCES | PLD3 | GERIATRICS & GERONTOLOGY | IDENTIFIES VARIANTS | DATABASE | MUTATION | PROGRAM | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Apolipoprotein E4 - genetics | Genetic Association Studies | Humans | Middle Aged | Male | LDL-Receptor Related Proteins - genetics | Membrane Glycoproteins - genetics | Whole Genome Sequencing | Young Adult | ATP-Binding Cassette Transporters - genetics | Membrane Transport Proteins - genetics | Aged, 80 and over | Adult | Female | Aged | Genetic Variation - genetics | Alzheimer Disease - genetics | Receptors, Immunologic - genetics | Genomics | Risk factors
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3. Full Text How health professionals conceptualize and represent placebo treatment in clinical trials and how their patients understand it: Impact on validity of informed consent
by Keller, Pascal-Henri and Grondin, Olivier and Tison, François and Gonon, Francois
PLoS ONE, ISSN 1932-6203, 05/2016, Volume 11, Issue 5, p. e0155940
Context Previous studies suggested that many patients, who have given their informed consent to participate in randomized controlled trials (RCT), have... 
SURGERY | RANDOMIZED CONTROLLED-TRIALS | RECRUITMENT | EXPERIENCES | INTERVENTIONS | EMPATHY | MULTIDISCIPLINARY SCIENCES | DISEASE | CANCER | ANALGESIA | ETHICS | Health Personnel - standards | Randomized Controlled Trials as Topic - psychology | Humans | Health Personnel - psychology | Physician-Patient Relations | Parkinson Disease - drug therapy | Health Knowledge, Attitudes, Practice | Informed Consent - psychology | Randomized Controlled Trials as Topic - standards | Placebos | Informed Consent - standards | Patients - psychology | Huntington Disease - drug therapy | Medical personnel | Services | Usage | Clinical trials | Informed consent (Medical law) | Research | Methods | Medical research | Health | Physicians | Medical services | Parents | Systematic review | Patients | Placebo effect | Studies | Narratives | Informed consent | Children
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4. Full Text Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
by Lesage, Suzanne and Drouet, Valérie and Majounie, Elisa and Deramecourt, Vincent and Jacoupy, Maxime and Nicolas, Aude and Cormier-Dequaire, Florence and Hassoun, Sidi Mohamed and Pujol, Claire and Ciura, Sorana and Erpapazoglou, Zoi and Usenko, Tatiana and Maurage, Claude-Alain and Sahbatou, Mourad and Liebau, Stefan and Ding, Jinhui and Bilgic, Basar and Emre, Murat and Erginel-Unaltuna, Nihan and Guven, Gamze and Tison, François and Tranchant, Christine and Vidailhet, Marie and Corvol, Jean Christophe and Corvol, Jean-Christophe and Krack, Paul and Leutenegger, Anne-Louise and Nalls, Michael A and Hernandez, Dena G and Heutink, Peter and Gibbs, J. Raphael and Hardy, John and Wood, Nicholas W and Gasser, Thomas and Durr, Alexandra and Deleuze, Jean-François and Tazir, Meriem and Destée, Alain and Lohmann, Ebba and Kabashi, Edor and Singleton, Andrew B and Singleton, Andrew and Corti, Olga and Brice, Alexis and Agid, Yves and Anheim, Mathieu and Bonnet, Anne-Marie and Borg, Michel and Broussolle, Emmanuel and Damier, Philippe and Dürr, Alexandra and Durif, Frank and Durif, Franck and Klebe, Stephan and Martinez, María and Martinez, Maria and Pollak, Pierre and Rascol, Olivier and Vérin, Marc and Viallet, François and Arepalli, Sampath and Barker, Roger A and Ben-Shlomo, Yoav and Berg, Daniela and Bettella, Francesco and Bhatia, Kailash and de Bie, Rob M.A and Biffi, Alessandro and Bloem, Bastiaan R and Bochdanovits, Zoltan and Bonin, Michael and Bras, Jose M and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Charlesworth, Gavin and Chen, Honglei and Chinnery, Patrick F and Chong, Sean and Clarke, Carl E and Cookson, Mark R and Counsell, Carl and Dartigues, Jean-François and Deloukas, Panos and Deuschl, Günther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Dong, Jing and Edkins, Sarah and Escott-Price, Valentina and Evans, Jonathan R and Foltynie, Thomas and Gao, Jianjun and Gardner, Michelle and Goate, Alison and Gray, Emma and Guerreiro, Rita and Harris, Clare and van Hilten, Jacobus J and ...
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 500 - 513
Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive... 
Parkinsonism | Physiological aspects | Genetic aspects | Mitochondrial diseases | Gene mutations | Health aspects | Life Sciences | Neurons and Cognition
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5. Full Text Evolution of brain atrophy subtypes during aging predicts long-term cognitive decline and future Alzheimer's clinical syndrome
by Planche, Vincent and Coupé, Pierrick and Helmer, Catherine and Le Goff, Mélanie and Amieva, Helene and Tison, François and Dartigues, Jean-François and Catheline, Gwénaëlle
Neurobiology of Aging, ISSN 0197-4580, 07/2019, Volume 79, pp. 22 - 29
It is currently unknown whether brain atrophy subtypes defined in Alzheimer's disease are clinically relevant during aging. We investigated participants (n =... 
Aging | Alzheimer | Imaging | Cohort study | Hippocampus | Cortex | DEMENTIA | DEFINED SUBTYPES | MRI | VOLUME | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | DISEASE | SEGMENTATION | NEUROPATHOLOGY | Medicine, Experimental | Brain | Medical research | Neurosciences | Aged | Alzheimer's disease | Computer Science | Medical Imaging
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6. Full Text Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases
by Witoelar, Aree and Jansen, Iris E and Wang, Yunpeng and Desikan, Rahul S and Gibbs, J. Raphael and Blauwendraat, Cornelis and Thompson, Wesley K and Hernandez, Dena G and Djurovic, Srdjan and Schork, Andrew J and Bettella, Francesco and Ellinghaus, David and Franke, Andre and Lie, Benedicte A and McEvoy, Linda K and Karlsen, Tom H and Lesage, Suzanne and Morris, Huw R and Brice, Alexis and Wood, Nicholas W and Heutink, Peter and Hardy, John and Singleton, Andrew B and Dale, Anders M and Gasser, Thomas and Andreassen, Ole A and Sharma, Manu and Int Parkinson's Dis Genomics Conso and United Kingdom Brain Expression Co and Amer Brain Expression Consortium N and International Parkinson’s Disease Genomics Consortium (IPDGC), North American Brain Expression Consortium (NABEC), and United Kingdom Brain Expression Consortium (UKBEC) Investigators and for the International Parkinson’s Disease Genomics Consortium (IPDGC), North American Brain Expression Consortium (NABEC), and United Kingdom Brain Expression Consortium (UKBEC) Investigators
JAMA Neurology, ISSN 2168-6149, 07/2017, Volume 74, Issue 7, pp. 780 - 792
IMPORTANCE: Recent genome-wide association studies (GWAS) and pathway analyses supported long-standing observations of an association between immune-mediated... 
Clinical Neurology | COMMON VARIANTS | RISK LOCI | ACTIVATION | MULTIPLE-SCLEROSIS | INFLAMMATION | MECHANISMS | ASSOCIATION | EXPRESSION | MYOTONIC-DYSTROPHY | IDENTIFIES 7 | CLINICAL NEUROLOGY | Crohn Disease - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Celiac Disease - genetics | Humans | Risk Factors | Colitis, Ulcerative - genetics | Diabetes Mellitus, Type 1 - genetics | Multiple Sclerosis - genetics | Genetic Pleiotropy | Genetic Loci | Parkinson Disease - genetics | Autoimmune Diseases - genetics | Arthritis, Rheumatoid - genetics | Psoriasis - genetics | Online First | Original Investigation | Research
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7. Full Text Trends in Prevalence of Dementia in French Farmers from Two Epidemiological Cohorts
by Pérès, Karine and Brayne, Carol and Matharan, Fanny and Grasset, Leslie and Helmer, Catherine and Letenneur, Luc and Foubert‐Samier, Alexandra and Baldi, Isabelle and Tison, François and Amieva, Hélène and Dartigues, Jean‐François
Journal of the American Geriatrics Society, ISSN 0002-8614, 02/2017, Volume 65, Issue 2, pp. 415 - 420
Objectives To determine the prevalence of dementia and cognitive impairment in older people across generations. Design Two prospective cohort studies... 
cohort studies | dementia | prevalence studies | cognitive disorders | POPULATION | DIAGNOSIS | ALZHEIMERS-DISEASE | ADULTS | COGNITIVE IMPAIRMENT | HYPERCHOLESTEROLEMIA | GERIATRICS & GERONTOLOGY | OBESITY | COMMUNITY | GERONTOLOGY | HYPERTENSION | PROGRAM | France - epidemiology | Prevalence | Humans | Proportional Hazards Models | Farmers - statistics & numerical data | Male | Dementia - epidemiology | Neuropsychological Tests | Cognitive Dysfunction - epidemiology | Aged, 80 and over | Female | Aged | Cohort Studies | Farmers | Epidemiology | Dementia | Geriatrics
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8. Full Text Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies
by Nalls, Michael A and Plagnol, Vincent and Hernandez, Dena G and Sharma, Manu and Sheerin, Una-Marie and Saad, Mohamad and Simon-Sanchez, Javier and Schulte, Claudia and Lesage, Suzanne and Sveinbjornsdottir, Sigurlaug and Arepalli, Sampath and Barker, Roger and Ben-Shlomo, Yoav and Berendse, Henk W and Berg, Daniela and Bhatia, Kailash and de Bie, Rob M. A and Biffi, Alessano and Bloem, Bas and Bochdanovits, Zoltan and Bonin, Michael and Bras, Jose M and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Charlesworth, Gavin and Chen, Honglei and Chinnery, Patrick F and Chong, Sean and Clarke, Carl E and Cookson, Mark R and Cooper, J. Mark and Corvol, Jean Christophe and Counsell, Carl and Damier, Philippe and Dartigues, Jean-Francois and Deloukas, Panos and Deuschl, Guenther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Durif, Frank and Duerr, Alexana and Edkins, Sarah and Evans, Jonathan R and Foltynie, Thomas and Gao, Jianjun and Gardner, Michelle and Gibbs, J. Raphael and Goate, Alison and Gray, Emma and Guerreiro, Rita and Gustafsson, Omar and Harris, Clare and van Hilten, Jacobus J and Hofman, Albert and Hollenbeck, Albert and Holton, Janice and Hu, Michele and Huang, Xuemei and Huber, Heiko and Hudson, Gavin and Hunt, Sarah E and Huttenlocher, Johanna and Illig, Thomas and Jonsson, Palmi V and Lambert, Jean-Charles and Langford, Cordelia and Lees, Anew and Lichtner, Peter and Limousin, Patricia and Lopez, Grisel and Lorenz, Delia and McNeill, Alisdair and Moorby, Catriona and Moore, Matthew and Morris, Huw R and Morrison, Karen E and Mudanohwo, Ese and O'Sullivan, Sean S and Pearson, Justin and Perlmutter, Joel S and Petursson, Hjoervar and Pollak, Pierre and Post, Bart and Potter, Simon and Ravina, Bernard and Revesz, Tamas and Riess, Olaf and Rivadeneira, Fernando and Rizzu, Patrizia and Ryten, Mina and Sawcer, Stephen and Schapira, Anthony and Scheffer, Hans and Shaw, Karen and Shoulson, Ira and Siansky, Ellen and Smith, Colin and Spencer, Chris C. A and ... and Wellcome Trust Case-Control Consor and Int Parkinson Dis Genomics Consort and International Parkinson Disease Genomics Consortium
Lancet, The, ISSN 0140-6736, 2011, Volume 377, Issue 9766, pp. 641 - 649
Summary Background Genome-wide association studies (GWAS) for Parkinson's disease have linked two loci ( MAPT and SNCA ) to risk of Parkinson's disease. We... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | SUSCEPTIBILITY | SYNAPTOTAGMIN-XI | STK39 | COMMON | LOCI | MUTATIONS | SUGGESTS | REGION | SNCA | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Risk Assessment | Humans | Middle Aged | Genetic Loci - genetics | Genotype | Male | Parkinson Disease - genetics | Age of Onset | Alleles | Polymorphism, Single Nucleotide - genetics | Adult | Female | Aged | Genetic Variation - genetics | Sequence Analysis | Genetic aspects | Parkinson's disease | Research | Genetic variation | Risk factors | Studies | DNA methylation | Medical research | Genetics | Parkinsons disease
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9. Full Text Withdrawing amantadine in dyskinetic patients with Parkinson disease: The AMANDYSK trial
by Ory-Magne, Fabienne and Corvol, Jean-Christophe and Azulay, Jean-Philippe and Bonnet, Anne-Marie and Brefel-Courbon, Christine and Damier, Philippe and Dellapina, Estelle and Destée, Alain and Durif, Franck and Galitzky, Monique and Lebouvier, Thibaud and Meissner, Wassilios and Thalamas, Claire and Tison, François and Salis, Alexandrine and Sommet, Agnès and Viallet, François and Vidailhet, Marie and Rascol, Olivier and NS-Park CIC Network and On behalf of the NS-Park CIC Network
Neurology, ISSN 0028-3878, 01/2014, Volume 82, Issue 4, pp. 300 - 307
OBJECTIVE:The AMANDYSK trial was designed to assess long-term efficacy of chronic treatment with amantadine in patients with Parkinson disease (PD) and... 
MOTOR FLUCTUATIONS | SARIZOTAN | MULTIPLE-SCLEROSIS | LEVODOPA-INDUCED DYSKINESIAS | FATIGUE | DOUBLE-BLIND | COMPLICATIONS | QUALITY-OF-LIFE | SCALE | DURATION | CLINICAL NEUROLOGY | Severity of Illness Index | Double-Blind Method | Humans | Middle Aged | Male | Treatment Outcome | Parkinson Disease - drug therapy | Amantadine - therapeutic use | Antiparkinson Agents - therapeutic use | Dyskinesia, Drug-Induced - drug therapy | Levodopa - adverse effects | Female | Aged
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10. Full Text The natural history of multiple system atrophy: a prospective European cohort study
by Wenning, Gregor K, Prof and Geser, Felix, MD and Krismer, Florian, MD and Seppi, Klaus, MD and Duerr, Susanne, MD and Boesch, Sylvia, MD and Köllensperger, Martin, MD and Goebel, Georg, PhD and Pfeiffer, Karl P, PhD and Barone, Paolo, MD and Pellecchia, Maria Teresa, MD and Quinn, Niall P, MD and Koukouni, Vasiliki, MD and Fowler, Clare J, MD and Schrag, Anette, MD and Mathias, Christopher J, MD and Giladi, Nir, MD and Gurevich, Tanya, MD and Dupont, Erik, MD and Ostergaard, Karen, MD and Nilsson, Christer F, MD and Widner, Håkan, MD and Oertel, Wolfgang, MD and Eggert, Karla Maria, MD and Albanese, Alberto, MD and del Sorbo, Francesca, MD and Tolosa, Eduardo, MD and Cardozo, Adriana, MD and Deuschl, Günther, MD and Hellriegel, Helge, MD and Klockgether, Thomas, MD and Dodel, Richard, MD and Sampaio, Cristina, MD and Coelho, Miguel, MD and Djaldetti, Ruth, MD and Melamed, Eldad, MD and Gasser, Thomas, MD and Kamm, Christoph, MD and Meco, Giuseppe, MD and Colosimo, Carlo, MD and Rascol, Olivier, MD and Meissner, Wassilios G, MD and Tison, François, MD and Poewe, Werner, MD and European Multiple Syst Atrophy and European Multiple System Atrophy Study Group and Sektion IV and Lund University and Neurologi, Lund and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Division IV and Lunds universitet and Neurology, Lund
Lancet Neurology, The, ISSN 1474-4422, 2013, Volume 12, Issue 3, pp. 264 - 274
Summary Background Multiple system atrophy (MSA) is a fatal and still poorly understood degenerative movement disorder that is characterised by autonomic... 
Neurology | DIAGNOSIS | GROUP EMSA-SG | NUCLEUS | DISORDERS | SYMPTOMS | PATIENT | QUALITY-OF-LIFE | DEEP BRAIN-STIMULATION | CLINICAL NEUROLOGY | PROGRESSIVE SUPRANUCLEAR PALSY | PARKINSONS-DISEASE | Severity of Illness Index | Prospective Studies | Europe | Humans | Middle Aged | Male | Parkinson Disease - physiopathology | Autonomic Nervous System Diseases - diagnosis | Disease Progression | Autonomic Nervous System Diseases - mortality | Cerebellar Ataxia - physiopathology | Phenotype | Autonomic Nervous System Diseases - physiopathology | Parkinson Disease - diagnosis | Multiple System Atrophy - mortality | Aged | Multiple System Atrophy - classification | Multiple System Atrophy - diagnosis | Multiple System Atrophy - physiopathology | Cerebellar Ataxia - diagnosis | Cerebellar Ataxia - mortality | Cohort Studies | Parkinson Disease - mortality | Atrophy | Medical colleges | Nervous system diseases | Neurosciences | Analysis | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
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