المؤلفون: Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Hector Garcia‐Moreno, Magda M Santana, Bart van de Warrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Durr, Bela Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen de Vries, Luis Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A Kaeser, Jens Kuhle, Thomas Klockgether, Ludger Schöls, SCA3 neurofilament study group, Christian Barro, Jeannette Hübener‐Schmid, Matthis Synofzik, Christian Deuschle, Elke Stransky, Kathrin Brockmann, Jörg B Schulz, Laszlo Baliko, Judith van Gaalen, Mafalda Raposo, Andreas Jeromin

المصدر: EMBO Molecular Medicine, Vol 12, Iss 7, Pp 1-19 (2020)

مصطلحات موضوعية: knock‐in mouse model, neurofilament light chain, phosphorylated neurofilament heavy chain, presymptomatic stage, spinocerebellar ataxia type 3, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/5f400354b7714009b295040d28db33a6

المؤلفون: Heike Jacobi, Sophie Tezenas du Montcel, Sandro Romanzetti, Florian Harmuth, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Grzegorz Makowicz, Alexandra Durr, Marie-Lorraine Monin, Alessandro Filla, Alessandro Roca, Ludger Schöls, Holger Hengel, Jon Infante, Jun-Suk Kang, Dagmar Timmann, Carlo Casali, Marcella Masciullo, Laszlo Baliko, Bela Melegh, Wolfgang Nachbauer, Katrin Bürk-Gergs, Jörg B Schulz, Olaf Riess, Kathrin Reetz, Thomas Klockgether

المصدر: The Lancet Neurology, 19(9), 738-747, (2020-09-05)

Relation: https://zenodo.org/communities/fondazionesantaluciairccs; https://doi.org/10.5281/zenodo.4570085; https://doi.org/10.5281/zenodo.4570086; oai:zenodo.org:4570086

الاتاحة: https://doi.org/10.5281/zenodo.4570086

المؤلفون: Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-1 (2017)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

Relation: http://link.springer.com/article/10.1186/s12881-017-0510-8; https://doaj.org/toc/1471-2350; https://doaj.org/article/57e5b627984a4d098d94ffd0b6ab70f0

الاتاحة: https://doi.org/10.1186/s12881-017-0510-8
https://doaj.org/article/57e5b627984a4d098d94ffd0b6ab70f0

المؤلفون: Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: Axial muscle atrophy, Myosin storage myopathy, MYH7, Stop loss mutation, Case report, Internal medicine, RC31-1245, Genetics, QH426-470

Relation: http://link.springer.com/article/10.1186/s12881-017-0463-y; https://doaj.org/toc/1471-2350; https://doaj.org/article/11c4ce87bacd49b19c38023687eb5643

الاتاحة: https://doi.org/10.1186/s12881-017-0463-y
https://doaj.org/article/11c4ce87bacd49b19c38023687eb5643

المؤلفون: Thomas Klockgether, Wolfgang Nachbauer, Alexandra Durr, Holger Hengel, Alessandro Roca, Katrin Bürk-Gergs, Kathrin Reetz, Dagmar Timmann, Olaf Riess, Caterina Mariotti, Florian Harmuth, Sandro Romanzetti, Jörg B. Schulz, Marcella Masciullo, Carlo Casali, Lorenzo Nanetti, Alessandro Filla, Maria Rakowicz, Jun Suk Kang, Béla Melegh, Laszlo Baliko, Jon Infante, Grzegorz Makowicz, Ludger Schöls, Heike Jacobi, Marie Lorraine Monin, Sophie Tezenas du Montcel

المصدر: The lancet / Neurology 19(9), 738-747 (2020). doi:10.1016/S1474-4422(20)30235-0

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Ataxia, diagnostic imaging [Spinocerebellar Ataxias], Medizin, Context (language use), genetics [Mutation], Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Risk Factors, medicine, Spinocerebellar Ataxias, Humans, ddc:610, Longitudinal Studies, Prospective Studies, genetics [Spinocerebellar Ataxias], Young adult, Prospective cohort study, Genetic testing, medicine.diagnostic_test, business.industry, Hazard ratio, Spinocerebellar ataxua, Middle Aged, medicine.disease, 030104 developmental biology, Mutation, Spinocerebellar ataxia, Disease Progression, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75b6d7f3365a7c46786ed5963148a06
http://hdl.handle.net/11573/1638827

المؤلفون: Rafał Rola, Antonella Antenora, Tanja Schmitz-Hübsch, Massimo Pandolfo, Bart P.C. van de Warrenburg, Anna Castaldo, Alexis Brice, Wolfgang Nachbauer, Sophie Tezenas du Montcel, José Berciano, Arron Cook, Paola Giunti, Caterina Mariotti, Jörg B. Schulz, Lorenzo Nanetti, Heike Jacobi, Kang Jun-Suk, Jon Infante, Holger Hengel, Alexandra Durr, Laszlo Baliko, Thomas Klockgether, Ludger Schöls, Michael H Parkinson, Alessandro Filla, Béla Melegh, Maria Rakowicz, Alhassane Diallo, Perrine Charles, Sylvia Boesch, Anna Sulek, Dagmar Timmann, Peter Bauer, Cecila Marelli, Robyn Labrum, Marta Panzeri

المصدر: Movement disorders
Movement disorders 34(8), 1220-1227 (2019). doi:10.1002/mds.27739
Movement Disorders, 34, 1220-1227
Movement Disorders, 34, 8, pp. 1220-1227

مصطلحات موضوعية: 0301 basic medicine, Male, Spinocerebellar Ataxia Type 1, Pediatrics, longitudinal data, physiopathology [Cognitive Dysfunction], Time Factors, physiopathology [Spinocerebellar Ataxias], Medizin, mortality [Machado-Joseph Disease], etiology [Cognitive Dysfunction], Cohort Studies, physiopathology [Machado-Joseph Disease], 0302 clinical medicine, physiopathology [Dystonia], spinocerebellar ataxia, EUROSCA study, Spinocerebellar ataxia type 6, Longitudinal Studies, Prospective Studies, Prospective cohort study, etiology [Dystonia], Machado-Joseph Disease, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Survival Rate, Dystonia, Neurology, complications [Machado-Joseph Disease], Spinocerebellar ataxia, Disease Progression, Female, medicine.symptom, etiology [Deglutition Disorders], Change over time, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, physiopathology [Deglutition Disorders], 03 medical and health sciences, Neurologie, medicine, Humans, Spinocerebellar Ataxias, Cognitive Dysfunction, ddc:610, EPOCE, Aged, complications [Spinocerebellar Ataxias], business.industry, Disease progression, mortality [Spinocerebellar Ataxias], dynamic predictions, medicine.disease, Confidence interval, nervous system diseases, 030104 developmental biology, nervous system, Neurology (clinical), business, Deglutition Disorders, 030217 neurology & neurosurgery

وصف الملف: 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2527d82655eeffa347c74770eb8a24d5
https://www.ncbi.nlm.nih.gov/pubmed/31211461

المؤلفون: Massimo Pandolfo, Sylvia Boesch, Laszlo Baliko, Thomas Klockgether, Sandra Szymanski, Ludger Schöls, Alessandro Filla, Anna Sulek, Arron Cook, Bart P.C. van de Warrenburg, Heike Jacobi, Maria Rakowicz, Jun Suk Kang, Holger Hengel, Michael H Parkinson, Dagmar Timmann, Anna Sobanska, Jon Infante, Alexis Brice, Peter Bauer, Jörg B. Schulz, Lorenzo Nanetti, Sophie Tezenas du Montcel, Antonella Antenora, Cecilia Marelli, Alexandra Durr, Paola Giunti, Robyn Labrum, Marta Panzeri, Béla Melegh, Alhassane Diallo, Perrine Charles, Caterina Mariotti, Sonia Molho, José Berciano, Tanja Schmitz-Hübsch

المساهمون: Jacobi, Heike, du Montcel, Sophie Tezena, Bauer, Peter, Giunti, Paola, Cook, Arron, Labrum, Robyn, Parkinson, Michael H, Durr, Alexandra, Brice, Alexi, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sulek, Anna, Sobanska, Anna, Schmitz Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Baliko, Laszlo, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P, Timmann, Dagmar, Szymanski, Sandra, Boesch, Sylvia, Kang, Jun Suk, Pandolfo, Massimo, Schulz, Jörg B, Molho, Sonia, Diallo, Alhassane, Klockgether, Thomas

المصدر: The lancet / Neurology 14(11), 1101-1108 (2015). doi:10.1016/S1474-4422(15)00202-1
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8

مصطلحات موضوعية: Male, Pediatrics, Medizin, physiopathology [Spinocerebellar Ataxias], Cohort Studies, genetics [Ataxin-1], ATXN2 protein, human, genetics [Spinocerebellar Ataxias], Young adult, Ataxin-3, Ataxin-1, Ataxin-2, CACNA1A protein, human, medicine.diagnostic_test, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], classification [Spinocerebellar Ataxias], Natural history, genetics [Ataxin-2], genetics [Calcium Channels], Disease Progression, Spinocerebellar ataxia, Female, medicine.symptom, Cohort study, Adult, PubMed, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Ataxia, Referral, Young Adult, genetics [Ataxin-3], statistics & numerical data [PubMed], medicine, Spinocerebellar Ataxias, Humans, ATXN1 protein, human, ddc:610, Genetic testing, business.industry, ATXN3 protein, human, medicine.disease, Repressor Proteins, genetics [Repressor Proteins], Sample size determination, Physical therapy, Calcium Channels, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::534c17ecab923dbbb896a52ac0d70e3c
https://doi.org/10.1016/s1474-4422(15)00202-1

المؤلفون: Paola Giunti, Sophie Tezenas du Montcel, Alessandro Filla, Anna Sulek, Massimo Pandolfo, Caterina Mariotti, Alhassane Diallo, Sylvia Boesch, Dagmar Timmann, Bart P.C. van de Warrenburg, Lidia Sarro, Peter Bauer, Perrine Charles, Maria Rakowicz, Jun Suk Kang, Robyn Labrum, Tanja Schmitz-Hübsch, Cecila Marelli, Jörg B. Schulz, Lorenzo Nanetti, Holger Hengel, Alexis Brice, Laszlo Baliko, Thomas Klockgether, Ludger Schöls, Wolfgang Nachbauer, Michael H Parkinson, Sandra Szymanski, Béla Melegh, Arron Cook, Heike Jacobi, Jon Infante, Antonella Antenora, Anna Sobanska, Audrey Tanguy Melac, Alexandra Durr, José Berciano

المساهمون: Jacobi, Heike, du Montcel, Sophie Tezena, Bauer, Peter, Giunti, Paola, Cook, Arron, Labrum, Robyn, Parkinson, Michael H., Durr, Alexandra, Brice, Alexi, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Sarro, Lidia, Rakowicz, Maria, Sulek, Anna, Sobanska, Anna, Schmitz-Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Baliko, Laszlo, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P., Timmann, Dagmar, Szymanski, Sandra, Boesch, Sylvia, Nachbauer, Wolfgang, Kang, Jun-Suk, Pandolfo, Massimo, Schulz, Jörg B., Melac, Audrey Tanguy, Diallo, Alhassane, Klockgether, Thomas

المصدر: Journal of Neurology, 265, 2040-2051
Journal of Neurology, 265, 9, pp. 2040-2051
Journal of neurology 265(9), 2040-2051 (2018). doi:10.1007/s00415-018-8954-0

مصطلحات موضوعية: Male, Quality of life, Pediatrics, medicine.medical_specialty, Ataxia, Visual analogue scale, ADL, physiopathology [Spinocerebellar Ataxias], Medizin, Severity of Illness Index, 03 medical and health sciences, psychology [Spinocerebellar Ataxias], 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Rating scale, Severity of illness, Activities of Daily Living, Medicine, Humans, Spinocerebellar Ataxias, 030212 general & internal medicine, ddc:610, Longitudinal Studies, Patient Reported Outcome Measures, Trinucleotide repeat disease, therapy [Spinocerebellar Ataxias], Aged, business.industry, Depression, Middle Aged, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Patient Health Questionnaire, Natural history studie, Neurology, Spinocerebellar ataxia, Quality of Life, Disease Progression, Patient-reported outcome, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Cohort study, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::427b5d0bb39e155807c22df0c47dba54
http://hdl.handle.net/11588/722781

المؤلفون: Caterina Mariotti, Jon Infante, Alessandro Filla, Heike Jacobi, Cecila Marelli, Sophie Tezenas du Montcel, Alexis Brice, Bart P.C. van de Warrenburg, José Berciano, Jörg B. Schulz, Lorenzo Nanetti, Dagmar Timmann, Anna Sobanska, Peter Bauer, Paola Giunti, Michael H Parkinson, Massimo Pandolfo, Alhassane Diallo, Robyn Labrum, Marta Panzeri, Perrine Charles, Antonella Antenora, Alexandra Durr, Anna Sulek, Holger Hengel, Tanja Schmitz-Hübsch, Ludger Schöls, Arron Cook, Laszlo Baliko, Thomas Klockgether, Béla Melegh, Sylvia Boesch, Maria Rakowicz, Jun Suk Kang

المساهمون: Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University Hospital Bonn, University College of London [London] (UCL), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hertie Institute for Clinical Brain Research and Center for Neurology, University of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Department of Medical Genetics and Child Development, University of Pecs, Department of Neurological Sciences, University of Naples Federico II = Università degli studi di Napoli Federico II, University of Cantabria, Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III [Madrid] (ISC), Leopold Franzens Universität Innsbruck - University of Innsbruck, Department of Neurology, Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB)-Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Institute of Medical Genetics and Applied Genomics [Tübingen], University of Tübingen, Department of neurology, Rheinische Friedrich-Wilhelms-Universität Bonn

المصدر: Movement Disorders Clinical Practice, 4, 689-697
Movement Disorders Clinical Practice
Movement Disorders Clinical Practice, 2017, 4 (5), pp.689--697. ⟨10.1002/mdc3.12522⟩
Movement Disorders Clinical Practice, 4, 5, pp. 689-697
Movement disorders clinical practice 4(5), 689-697 (2017). doi:10.1002/mdc3.12522

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Ataxia, [SDV]Life Sciences [q-bio], Medizin, Motor symptoms, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Weight loss, Internal medicine, Medicine, ddc:610, Prospective cohort study, Research Articles, 2. Zero hunger, business.industry, Disease progression, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, 3. Good health, 030104 developmental biology, Neurology, Physical therapy, Spinocerebellar ataxia, Biomarker (medicine), Neurology (clinical), medicine.symptom, business, Body mass index, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2bb7535feb57d032b1b892941c97dcd
http://hdl.handle.net/2066/189795

المؤلفون: Dagmar Timmann, Massimo Pandolfo, Paola Giunti, Sylvia Boesch, Ludger Schöls, C.C.P. Verstappen, B.P.C. van de Warrenburg, Lisa Bunn, Béla Melegh, Emr Fonteyn, Laszlo Baliko, Thomas Klockgether, C. Globas, Bastiaan R. Bloem, T. Schmitz-Hübsch

المصدر: European Neurology, 69, 53-7
European neurology 69(1), 53-57 (2013). doi:10.1159/000342907
European Neurology, 69, 1, pp. 53-7

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, DCN MP - Plasticity and memory, Medizin, Functional Neurogenomics Human Movement & Fatigue [DCN 2], Poison control, Occupational safety and health, Recall bias, Injury prevention, Prevalence, Spinocerebellar Ataxias, Humans, Medicine, ddc:610, Longitudinal Studies, Prospective Studies, genetics [Spinocerebellar Ataxias], Prospective cohort study, Aged, Aged, 80 and over, statistics & numerical data [Accidental Falls], complications [Spinocerebellar Ataxias], business.industry, Retrospective cohort study, Middle Aged, Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Neurology, Etiology, Physical therapy, Accidental Falls, Female, epidemiology [Spinocerebellar Ataxias], Neurology (clinical), business, Natural history study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda33ea63cf39dd5f4c70fe4c78e867
https://doi.org/10.1159/000342907

المؤلفون: Franziska Hoche, Béla Melegh, Wilfred F. A. den Dunnen, Laszlo Bartos, Katalin Steinecker, Thomas Deller, Horst-Werner Korf, Thomas Klockgether, Udo Rüb, Laszlo Baliko, Georg Auburger, Eniko Safrany

المصدر: Cerebellum, 10(2), 245-253. SPRINGER

مصطلحات موضوعية: Adult, Male, INVOLVEMENT, Ataxia, CENTRAL SOMATOSENSORY SYSTEM, Adolescent, PRECEREBELLAR NUCLEI, Nerve Tissue Proteins, Adenocarcinoma, Deep cerebellar nuclei, Polymerase Chain Reaction, PATIENT, ATROPHY, Oculomotor nucleus, SCA2, REVEALS, medicine, CONSISTENT AFFECTION, Humans, Spinocerebellar Ataxias, Age of Onset, Aged, SECTIONS, Cerebellar ataxia, Brain, Prostatic Neoplasms, Twins, Monozygotic, Middle Aged, medicine.disease, Pons, INCLUSIONS, Pedigree, STEM NUCLEI, Ataxins, Neurology, Nerve Degeneration, Spinocerebellar ataxia, Female, Neurology (clinical), Brainstem, ADCA, Primary motor cortex, medicine.symptom, Trinucleotide Repeat Expansion, Psychology, Neuroscience, Polyglutamine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44c07882c3486ff944ab09c759c8deed
https://research.rug.nl/en/publications/b09bea6c-ac53-4abd-9c4c-93cf3e94dd98

المؤلفون: Béla Melegh, Anita Maász, Laszlo Baliko, Zoltán Szolnoki

المصدر: Orvosi Hetilap. 152:455-463

مصطلحات موضوعية: medicine.medical_specialty, Genome-wide association study, Bioinformatics, Brain Ischemia, Renin-Angiotensin System, Risk Factors, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, cardiovascular diseases, Stroke, Genetic testing, Cause of death, Polymorphism, Genetic, medicine.diagnostic_test, business.industry, Commerce, General Medicine, medicine.disease, Magnetic Resonance Imaging, Heart failure, Ischemic stroke, Physical therapy, Special care, Personalized medicine, Tomography, X-Ray Computed, business, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1824c0f18f2ff0b14a4db16edeb5ae5f
https://doi.org/10.1556/oh.2011.29069

المؤلفون: Laszlo Baliko, Györgyi Csábi, Kinga Hadzsiev, Béla Melegh, Judit Bene, Péter Kisfali, Katalin Komlósi, Anett Lőcsei-Fekete

المصدر: Orvosi hetilap. 156(3)

مصطلحات موضوعية: Adult, Male, medicine.diagnostic_test, Adolescent, business.industry, Hereditary spastic paraplegia, Spastic Paraplegia, Hereditary, General Medicine, Walking, Middle Aged, Spastin, medicine.disease, Molecular biology, Polymorphism, Single Nucleotide, Child, Preschool, Disease Progression, Medicine, Humans, Female, business, Child, Locomotion, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ae9b854d2bc0af97a85277581ee114e
https://pubmed.ncbi.nlm.nih.gov/25577683

المؤلفون: Caterina Mariotti, Anna Sulek, Sylvia Boesch, Jörg B. Schulz, Lorenzo Nanetti, Maria Rakowicz, Dagmar Timmann, Jun Suk Kang, Katrin Bürk, Alessandro Filla, Perrine Charles, Ludger Schöls, Julia Schicks, Alexandra Durr, Marcella Masciullo, Antonella Antenora, Jon Infante, Annkathrin Peltz, Heike Jacobi, Laszlo Baliko, Thomas Klockgether, Béla Melegh, Roberto Di Fabio, Isabelle Dufaure-Garé, Sophie Tezenas du Montcel, Peter Bauer, Kathrin Reetz

المساهمون: Jacobi, H, Reetz, K, du Montcel, St, Bauer, P, Mariotti, C, Nanetti, L, Rakowicz, M, Sulek, A, Durr, A, Charles, P, Filla, Alessandro, Antenora, A, Sch?ls, L, Schicks, J, Infante, J, Kang, J, Timmann, D, Di Fabio, R, Masciullo, M, Baliko, L, Melegh, B, Boesch, S, B?rk, K, Peltz, A, Schulz, Jb, Dufaure Gar?, I, Klockgether, T.

المصدر: The lancet / Neurology 12(7), 650-658 (2013). doi:10.1016/S1474-4422(13)70104-2

مصطلحات موضوعية: Male, Health Status, physiopathology [Spinocerebellar Ataxias], Medizin, etiology [Sleep Wake Disorders], Neuropsychological Tests, psychology [Spinocerebellar Ataxias], Image Processing, Computer-Assisted, diagnosis [Spinocerebellar Ataxias], Longitudinal Studies, Prospective Studies, Young adult, Age of Onset, Prospective cohort study, Neurologic Examination, medicine.diagnostic_test, blood [DNA], Middle Aged, Magnetic Resonance Imaging, Europe, physiology [Mutation], Mutation (genetic algorithm), Spinocerebellar ataxia, Disease Progression, Female, medicine.symptom, Sleep Wake Disorders, Adult, Risk, medicine.medical_specialty, Heterozygote, Ataxia, Adolescent, Offspring, complications [Restless Legs Syndrome], genetics [Mutation], Young Adult, pathology [Brain Stem], Restless Legs Syndrome, Internal medicine, medicine, Spinocerebellar Ataxias, Humans, ddc:610, Genetic testing, Aged, genetics [DNA], business.industry, DNA, medicine.disease, Mutation, Physical therapy, Neurology (clinical), Age of onset, business, Brain Stem

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49afe81075f4b1a4804bca1458880ef3
http://hdl.handle.net/11588/573071

المؤلفون: Elszbieta Zdzienicka, Sophie Tezenas du Montcel, Ludger Schöls, Paola Giunti, Dagmar Timmann, Berry Kremer, Caterina Mariotti, Mathieu Coudert, Alessandro Filla, Jörg B. Schulz, Jun Suk Kang, Jon Infante, Bart P.C. van de Warrenburg, Pascale Ribai, Rafał Rola, Sandra Szymanski, Roberto Fancellu, C. Globas, T. Schmitz-Hübsch, Perrine Charles, Susanne Ratzka, Thomas Klopstock, Alexandra Durr, S Boesch, Chantal Depondt, Béla Melegh, Laszlo Baliko, Thomas Klockgether, Maryla Rakowicz

المساهمون: Schmitz Hübsch, T, Coudert, M, Giunti, P, Globas, C, Baliko, L, Fancellu, R, Mariotti, C, Filla, Alessandro, Rakowicz, M, Charles, P, Ribai, P, Szymanski, S, Infante, J, van de Warrenburg, Bp, Dürr, A, Timmann, D, Boesch, S, Rola, R, Depondt, C, Schöls, L, Zdzienicka, E, Kang, J, Ratzka, S, Kremer, B, Schulz, Jb, Klopstock, T, Melegh, B, du Montcel, St, Klockgether, T., University of Zurich, Schmitz-Hübsch, T, Internal Medicine Specializations

المصدر: Movement Disorders, 25, 5, pp. 587-95
Movement Disorders, 25, 587-95
Movement Disorders, 25(5), 587-595. Wiley

مصطلحات موضوعية: Male, Health Status, Emotions, Medizin, Anxiety, Severity of Illness Index, spinocerebellar ataxia, Quality of life, PARKINSONS-DISEASE, QUALITY-OF-LIFE, Surveys and Questionnaires, Medicine, POPULATION, Self-rated health, Pain Measurement, Neurologic Examination, education.field_of_study, MULTIPLE-SCLEROSIS, Middle Aged, Europe, 2728 Neurology (clinical), Neurology, depression, Spinocerebellar ataxia, subjective health rating, Female, medicine.symptom, Functional Neurogenomics [DCN 2], STROKE, Adult, medicine.medical_specialty, Ataxia, Visual analogue scale, Population, Clinical Neurology, QUESTIONNAIRE, 610 Medicine & health, VALIDATION, Statistics, Nonparametric, EQ-5D, EPILEPSY SURGERY, Humans, Spinocerebellar Ataxias, education, Aged, business.industry, medicine.disease, FRAMEWORK, 10040 Clinic for Neurology, Patient Health Questionnaire, RATING-SCALES, 2808 Neurology, Physical therapy, Quality of Life, Neurology (clinical), business

وصف الملف: ELETTRONICO; application/pdf; Schmitz_Self-Rated_Health_Status_in_Spinocerebellar_Ataxia_2010.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ca048a020129fbae9766876ac0cd6b
https://doi.org/10.1002/mds.22740

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00e88319139816ef8bcd614e67b4baa9
https://hdl.handle.net/2066/70972

المؤلفون: András Guseo, Bernadett Faragó, Béla Melegh, Laszlo Baliko, Enikő Sáfrány

المصدر: Orvosi hetilap. 148(45)

مصطلحات موضوعية: medicine.medical_specialty, Phenotype, Cerebellar Ataxia, Trinucleotide Repeats, business.industry, DNA Mutational Analysis, medicine, Heredodegenerative Disorders, Nervous System, Humans, General Medicine, Audiology, business, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ede2bf77a0c3a7b76ec890524f02ae0
https://pubmed.ncbi.nlm.nih.gov/17984023

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::460fbda846f34841577124b01406eca8
https://hdl.handle.net/2066/50163

المؤلفون: Sylvie S. Romano, Sara Bonato, Tanja Schmitz-Hübsch, Caterina Mariotti, Alexandra Durr, Sandra Szymanski, Bart P.C. van de Warrenburg, Berry B. Kremer, S Boesch, E. Zdzienicka, Paola Giunti, Béla Melegh, Rafał Rola, C. Globas, Roberto Fancellu, Jun Suk J.S. Kang, Lodger L. Schöls, Laszlo Baliko, Thomas Klockgether, Maryla Rakowicz, Sophie Tezenas du Montcel

المصدر: Movement Disorders, 21, 5, pp. 699-704
Movement Disorders, 21, 699-704

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ataxia, Adolescent, Psychometrics, International Cooperation, Sensitivity and Specificity, Severity of Illness Index, Disability Evaluation, Cognitive neurosciences [UMCN 3.2], medicine, Perception and Action [DCN 1], Humans, Spinocerebellar Ataxias, Reliability (statistics), Aged, Aged, 80 and over, Analysis of Variance, Reproducibility of Results, Middle Aged, medicine.disease, Inter-rater reliability, Neurology, Scale (social sciences), Physical therapy, Spinocerebellar ataxia, Female, International Cooperative Ataxia Rating Scale, Neurology (clinical), Metric (unit), medicine.symptom, Psychology, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1815229ea155da2e1d8c037c6e5967d2
https://hdl.handle.net/2066/50512

المؤلفون: Pascale Ribai, Nagehan Ersoy, Massimo Pandolfo, Herwig W. Lange, Ludovit Kadasi, Anna Sulek, Manfred Stuhrmann, Nazli Basak, Jana Zidovska, Helga Weirich-Schwaiger, Viktória Havasi, Vera Kebrdlova, Jürgen Tomiuk, Cinzia Gellera, Gregor K. Wenning, Stefan Wieczorek, Olaf Riess, Stefano DiDonato, Silke Metzger, Peter Bauer, Béla Melegh, Bernhardt H. F. Weber, Paola Soliveri, Laszlo Baliko, Matthias Dose, Larissa Arning, Friedmar Kreuz, Jacek Zaremba, Franco Laccone, Marta Kvasnicova, Dorota Hoffman-Zacharska

المصدر: Neurogenetics. 7(1)

مصطلحات موضوعية: 610 Medizin, Huntington's disease, Age-at-onset, Genetic modifiers, Ubiquitin carboxy-terminal hydrolase L1 (UCHL1), S18Y polymorphism, Locus (genetics), Nerve Tissue Proteins, Biology, Cellular and Molecular Neuroscience, Degenerative disease, Trinucleotide Repeats, Genetic linkage, Genetics, medicine, Huntingtin Protein, 570 Biowissenschaften, Biologie, Humans, Allele, Age of Onset, Genetics (clinical), Polymorphism, Genetic, Nuclear Proteins, medicine.disease, Human genetics, Huntington Disease, Age of onset, Ubiquitin Thiolesterase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f7a9ec5e9aeb4bb8e6e081cd735964
https://pubmed.ncbi.nlm.nih.gov/16369839