المؤلفون: J. van Gaalen, Alexandra Durr, Olaf Riess, J.-M. Burgunder, Paola Giunti, Christian Mariotti, B.P.C. van de Warrenburg, S Boesch, Thomas Klockgether, Massimo Pandolfo

المصدر: European Journal of Neurology, 21, 552-62
European Journal of Neurology, 21, 4, pp. 552-62

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Consensus, Ataxia, Databases, Factual, Guidelines as Topic, Humans, Medicine, Oculomotor apraxia, Family history, Genetic testing, medicine.diagnostic_test, business.industry, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Symptomatic relief, FMR1, Neurology, Chronic Disease, Ataxia-telangiectasia, Spinocerebellar ataxia, Physical therapy, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199d4b214234d221ec473fdc3b1a04d5Test
https://doi.org/10.1111/ene.12341Test

المؤلفون: Dagmar Timmann, Robyn Labrum, A. Filla, Elena Salvatore, Maryla Rakowicz, E. Zdzienicka, L. Baliko, B.P.C. van de Warrenburg, T. Schmitz-Hübsch, Jörg B. Schulz, Roberto Fancellu, Jon Infante, Paola Giunti, Rafał Rola, Christian Mariotti, Thomas Klockgether, Chantal Depondt, Béla Melegh, S. Tezenas du Montcel, Christoph Linnemann, Ludger Schöls, Rolf Fimmers, Berry Kremer

المساهمون: Schmitz Hübsch, T, Fimmers, R, Rakowicz, M, Rola, R, Zdzienicka, E, Fancellu, R, Mariotti, C, Linnemann, C, Schöls, L, Timmann, D, Filla, Alessandro, Salvatore, Elena, Infante, J, Giunti, P, Labrum, R, Kremer, B, van de Warrenburg, Bp, Baliko, L, Melegh, B, Depondt, C, Schulz, J, du Montcel, St, Klockgether, T.

المصدر: Neurology, 74, 8, pp. 678-84
Neurology, 74, 678-84
ResearcherID

مصطلحات موضوعية: medicine.medical_specialty, Ataxia, Visual analogue scale, Health Status, Medizin, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Surveys and Questionnaires, Severity of illness, medicine, Humans, Spinocerebellar Ataxias, Clinical significance, 030212 general & internal medicine, business.industry, Patient Selection, Reproducibility of Results, medicine.disease, Sample size determination, Area Under Curve, Cohort, Disease Progression, Quality of Life, Physical therapy, Spinocerebellar ataxia, Neurology (clinical), medicine.symptom, business, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery

وصف الملف: application/pdf; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5a9909862d0aab1d112fcdc15b307fbTest
https://doi.org/10.1212/wnl.0b013e3181d1a6c9Test

المؤلفون: T. Schmitz-Hübsch, Paola Giunti, J-S Kang, A. Filla, B.P.C. van de Warrenburg, Thomas Klockgether, C. Globas, S Döhlinger, L. Baliko, Francesco Saccà, Christian Mariotti, Roberto Fancellu, Jon Infante, Chantal Depondt, Rafał Rola, Béla Melegh, Sandra Szymanski, Berry Kremer, E. Zdzienicka, Ludger Schöls, Dagmar Timmann, Maria Rakowicz, D A Stephenson

المساهمون: Schmitz Hübsch, T, Giunti, P, Stephenson, Da, Globas, C, Baliko, L, Sacca', Francesco, Mariotti, C, Rakowicz, M, Szymanski, S, Infante, J, van de Warrenburg, Bp, Timmann, D, Fancellu, R, Rola, R, Depondt, C, Schöls, L, Zdzienicka, E, Kang, J, Döhlinger, S, Kremer, B, Melegh, B, Filla, Alessandro, Klockgether, T.

المصدر: Neurology, 71, 7, pp. 486-92
Neurology, 71, 486-92

مصطلحات موضوعية: Male, medicine.medical_specialty, Ataxia, Central nervous system disease, Disability Evaluation, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, Cognitive neurosciences [UMCN 3.2], Disease severity, Rating scale, 030225 pediatrics, Multicenter trial, Internal medicine, Perception and Action [DCN 1], medicine, Humans, Spinocerebellar Ataxias, Confounding, Middle Aged, medicine.disease, Motor Skills, Spinocerebellar ataxia, Physical therapy, Female, Neurology (clinical), medicine.symptom, Psychology, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery

وصف الملف: STAMPA; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::042c35beca1e2117c617f7967e881e1cTest
https://doi.org/10.1212/01.wnl.0000324863.76290.19Test

المؤلفون: Christian, Mariotti, Françoise, Le Piver, Ludovic, Aubry

المصدر: International Journal for Numerical Methods in Engineering ; volume 101, issue 10, page 731-743 ; ISSN 0029-5981

الإتاحة: https://doi.org/10.1002/nme.4822Test

المؤلفون: Chantal M. E. Tallaksen, P. De Jonghe, Christian Mariotti, Sarah J. Tabrizi, Ludger Schöls, Z. Szolnoki, B. Fontaine, Jonathan Baets, Massimo Zeviani, C Van Broeckhoven, T. Gasser, Antonella Spinazzola, Josef Finsterer, Timothy Lynch, S. Di Donato, Alexander Lossos, Jean-Marc Burgunder, Hanne F. Harbo

المصدر: European Handbook of Neurological Management
European handbook of neurological management, volume 2 / Gilhus, Nils Erik [edit.]

مصطلحات موضوعية: Dystonia, Parkinson's disease, Huntington's disease, business.industry, Medicine, Human medicine, business, medicine.disease, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2701be50bfd70f8e2557df04c844fa69Test
https://doi.org/10.1002/9781444346268.ch4Test

المؤلفون: Sandra Szymanski, M Coudert, B.P.C. van de Warrenburg, D A Stephenson, Berry Kremer, Dagmar Timmann, C. Globas, S. Tezenas du Montcel, Jon Infante, Peter Bauer, Roberto Fancellu, Massimo Pandolfo, Christian Mariotti, S. Di Donato, S Döhlinger, Chantal Depondt, Laszlo Baliko, Thomas Klockgether, Maryla Rakowicz, Béla Melegh, Rafał Rola, S Boesch, Alessandro Filla, J-S Kang, Alexandra Durr, Perrine Charles, T. Schmitz-Hübsch, E Zdienicka, Paola Giunti, Ludger Schöls, P Ribai

المساهمون: Schmitz Hübsch, T, Coudert, M, Bauer, P, Giunti, P, Globas, C, Baliko, L, Filla, Alessandro, Mariotti, C, Rakowicz, M, Charles, P, Ribai, P, Szymanski, S, Infante, J, van de Warrenburg, Bp, Dürr, A, Timmann, D, Boesch, S, Fancellu, R, Rola, R, Depondt, C, Schöls, L, Zdienicka, E, Kang, J, Döhlinger, S, Kremer, B, Stephenson, Da, Melegh, B, Pandolfo, M, di Donato, S, du Montcel, St, Klockgether, T.

المصدر: Neurology, 71, 13, pp. 982-9
Neurology, 71, 982-9

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Severity of Illness Index, Central nervous system disease, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, Cognitive neurosciences [UMCN 3.2], Internal medicine, Germany, Genotype, Severity of illness, medicine, Perception and Action [DCN 1], Humans, Spinocerebellar Ataxias, Allele, 10. No inequality, 030304 developmental biology, 0303 health sciences, business.industry, Machado-Joseph Disease, Middle Aged, medicine.disease, Spinocerebellar ataxia, Female, Neurology (clinical), medicine.symptom, business, Machado–Joseph disease, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery

وصف الملف: application/pdf; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00e88319139816ef8bcd614e67b4baa9Test
https://hdl.handle.net/2066/70972Test

المؤلفون: Klaus Seppi, Victoria Havasi, Bernhard H. F. Weber, Vera Kebrdlova, Manfred Stuhrmann, Gregor K. Wenning, Jacek Zaremba, Herwig W. Lange, Friedmar Kreuz, Massimo Pandolfo, Ludovit Kadasi, Cinzia Gellera, Stefano DiDonato, Silke Metzger, Pascale Ribai, Helga Weirich-Schwaiger, Juergen Tomiuk, Anna Sulek, L. Baliko, Stefan Wieczorek, A. Nazli Basak, Matthias Dose, Esra Soydan, Olaf Riess, Peter Bauer, Jana Zidovska, Christian Mariotti, Béla Melegh, Franco Laccone, Dorota Hoffman-Zacharska, Marta Kvasnicova

المصدر: Human genetics. 120(2)

مصطلحات موضوعية: Adult, Candidate gene, Huntingtin, Adolescent, Nerve Tissue Proteins, Biology, Genetic analysis, Genetic determinism, Huntington's disease, Receptors, Kainic Acid, Genetics, medicine, Humans, Age of Onset, Child, Genetics (clinical), Genetic association, Adaptor Proteins, Signal Transducing, Aged, Aged, 80 and over, Huntingtin Protein, Polymorphism, Genetic, Brain-Derived Neurotrophic Factor, Nuclear Proteins, Middle Aged, medicine.disease, TATA-Box Binding Protein, DNA-Binding Proteins, Huntington Disease, Genetic marker, Child, Preschool, Age of onset, Carrier Proteins, Acyltransferases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e0ab8958090347eab5315176de734d0Test
https://pubmed.ncbi.nlm.nih.gov/16847693Test

المؤلفون: Paola Giunti, Rafał Rola, S. Tezenas du Montcel, J-S Kang, Berry Kremer, Christian Mariotti, Chantal Depondt, Béla Melegh, José Berciano, Maryla Rakowicz, C. Globas, Massimo Pandolfo, Sandra Szymanski, P Ribai, T. Schmitz-Hübsch, S Boesch, B.P.C. van de Warrenburg, Jon Infante, Laszlo Baliko, Thomas Klockgether, Alexandra Durr, Roberto Fancellu, Ludger Schöls

المصدر: Neurology, 66, 11, pp. 1717-20
Neurology, 66, 1717-20

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ataxia, Adolescent, Scale (ratio), Visual analogue scale, Sensitivity and Specificity, Severity of Illness Index, Cronbach's alpha, Cognitive neurosciences [UMCN 3.2], Rating scale, Outcome Assessment, Health Care, medicine, Perception and Action [DCN 1], Health Status Indicators, Humans, Spinocerebellar Ataxias, Psychiatry, Aged, Aged, 80 and over, Neurologic Examination, Reproducibility of Results, Middle Aged, medicine.disease, Inter-rater reliability, Spinocerebellar ataxia, Physical therapy, Female, International Cooperative Ataxia Rating Scale, Neurology (clinical), medicine.symptom, Psychology, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::460fbda846f34841577124b01406eca8Test
https://hdl.handle.net/2066/50163Test

المؤلفون: Maria Adela Puscas, Laurent Monasse, Re Ern, Christian Tenaud, Christian Mariotti, Virginie Daru

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hal-cea.archives-ouvertes.fr/docs/00/99/33/24/PDF/deformable.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.634.9225Test; http://hal-cea.archives-ouvertes.fr/docs/00/99/33/24/PDF/deformable.pdfTest

الإتاحة: http://hal-cea.archives-ouvertes.fr/docs/00/99/33/24/PDF/deformable.pdfTest

المؤلفون: Laurent Monasse, Christian Mariotti B

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://arxiv.org/pdf/0907.2202v1.pdfTest.

مصطلحات موضوعية: Discrete Element Method, Energy conservation

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.312.7824Test; http://arxiv.org/pdf/0907.2202v1.pdfTest

الإتاحة: http://arxiv.org/pdf/0907.2202v1.pdfTest