المؤلفون: Katina Aleksovska, Teia Kobulashvili, Joao Costa, Georg Zimmermann, Karen Ritchie, Carola Reinhard, Luca Vignatelli, Alessandra Fanciulli, Maxwel Damian, Lucia Pavlakova, Jean‐Marc Burgunder, Svetlana Kopishinskaya, Martin Rakusa, Norbert Kovacs, Fusun Ferda Erdogan, Lori Renna Linton, Massimiliano Copetti, Costanza Lamperti, Serenella Servidei, Theresina Evangelista, Segolene Ayme, Davide Pareyson, Johann Sellner, Christian Krarup, Marianne de Visser, Peter van den Bergh, Antonio Toscano, Holm Graessner, Thomas Berger, Claudio Bassetti, Marie Vidailhet, Eugene Trinka, Guenther Deuschl, Antonio Federico, Maurizio A. Leone

المساهمون: Repositório da Universidade de Lisboa, Neurology, ANS - Neuroinfection & -inflammation

المصدر: European journal of neurology, 29(6), 1571-1586. Wiley-Blackwell

مصطلحات موضوعية: AGREE, recommendation, consensus, neurology, Practice Guidelines as Topic, Humans, rare diseases, Neurology (clinical), Nervous System Diseases, 610 Medicine & health, Delphi, guideline

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::656400a6389d2f66ec5d4fad84207509Test
http://www.scopus.com/inward/record.url?scp=85127364547&partnerID=8YFLogxKTest

المؤلفون: Tim Vanbellingen, Manuel Bertschi, Sebastian Walther, Jean-Marc Burgunder, Bruno Weder, Katharina Stegmayer, Stephan Bohlhalter, Stefanie Kübel, Eugenio Abela, Manuela Pastore-Wapp

المصدر: NeuroImage : Clinical
Kübel, S, Stegmayer, K, Vanbellingen, T, Pastore-Wapp, M, Bertschi, M, Burgunder, J-M, Abela, E, Weder, B, Walther, S & Bohlhalter, S 2017, ' Altered praxis network underlying limb kinetic apraxia in Parkinson's disease : an fMRI study ', NeuroImage: Clinical . https://doi.org/10.1016/j.nicl.2017.07.007Test
Kübel, Stefanie; Stegmayer, Katharina; Vanbellingen, Tim; Pastore-Wapp, Manuela; Bertschi, Manuel; Burgunder, Jean-Marc; Abela, Eugenio; Weder, Bruno; Walther, Sebastian; Bohlhalter, Stephan (2017). Altered praxis network underlying limb kinetic apraxia in Parkinson's disease-an fMRI study. NeuroImage: Clinical, 16, pp. 88-97. Elsevier 10.1016/j.nicl.2017.07.007 <http://dx.doi.org/10.1016/j.nicl.2017.07.007Test>
NeuroImage: Clinical, Vol 16, Iss, Pp 88-97 (2017)

مصطلحات موضوعية: Male, Parkinson's disease, Apraxia, Hippocampus, lcsh:RC346-429, Functional connectivity, 0302 clinical medicine, Neural Pathways, Image Processing, Computer-Assisted, 610 Medicine & health, Motor skill, Dexterity, medicine.diagnostic_test, 05 social sciences, Brain, Regular Article, Parkinson Disease, Middle Aged, Fine motor skill, Magnetic Resonance Imaging, Motor Skills Disorders, medicine.anatomical_structure, Neurology, lcsh:R858-859.7, Female, Psychology, Apraxias, Cognitive Neuroscience, Movement, lcsh:Computer applications to medicine. Medical informatics, behavioral disciplines and activities, 050105 experimental psychology, Executive control, Premotor cortex, 03 medical and health sciences, medicine, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, lcsh:Neurology. Diseases of the nervous system, Aged, Inferior parietal lobule, Extremities, medicine.disease, Oxygen, Case-Control Studies, Finger tapping, Coin rotation, Neurology (clinical), Functional magnetic resonance imaging, Mental Status Schedule, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62024a58ca7cec15d9c044f4af256792Test
http://europepmc.org/articles/PMC5527158Test

المؤلفون: Hong-Lei Li, Yi Dong, Wang Ni, Shi-Rui Gan, Zhi-Jun Liu, Hong-Rong Cheng, Bin Gao, Xiao-Yan Li, Zhi-Ying Wu, Jean-Marc Burgunder

المصدر: European journal of neurologyReferences. 27(2)

مصطلحات موضوعية: Genotype, Disease, Polymorphism, Single Nucleotide, Haplogroup, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, Asian People, Htt gene, Prevalence, Medicine, Humans, 030212 general & internal medicine, Alleles, Genetics, Chinese population, Genetic diversity, Huntingtin Protein, business.industry, Haplotype, medicine.disease, Huntington Disease, Neurology, Haplotypes, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d6ea166329fc09549674da21d8a24dcTest
https://pubmed.ncbi.nlm.nih.gov/31444920Test

المؤلفون: Huifang Shang, D. Lang, Jean-Marc Burgunder, A. Kaelin-Lang, N. Clerc

المصدر: European Journal of Neurology. 12:131-138

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Disease, Polymerase Chain Reaction, Torsion dystonia, Exon, SGCE, Sarcoglycans, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Age of Onset, Family history, GTP Cyclohydrolase, Polymorphism, Single-Stranded Conformational, Dystonia, Polymorphism, Genetic, Genetic heterogeneity, business.industry, medicine.disease, nervous system diseases, Neurology, Dystonic Disorders, Mutation, Female, Neurology (clinical), Age of onset, business, Molecular Chaperones

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f50cc9fb3b5283bceda48d9c588551Test
https://doi.org/10.1111/j.1468-1331.2004.00974.xTest

المؤلفون: Jean-Marc Burgunder, Walter Hunziker

المصدر: IUBMB Life (International Union of Biochemistry and Molecular Biology: Life). 55:347-352

مصطلحات موضوعية: Atlastin, Spastin, Hereditary spastic paraplegia, Proteolipids, Clinical Biochemistry, Kinesins, Cell Cycle Proteins, Degeneration (medical), Biochemistry, GTP Phosphohydrolases, GTP-Binding Proteins, Genetics, medicine, Humans, Spasticity, Molecular Biology, Adenosine Triphosphatases, Spastic Paraplegia, Hereditary, Gait Disturbance, business.industry, Calcium-Binding Proteins, Membrane Proteins, Proteins, Chaperonin 60, Cell Biology, medicine.disease, nervous system diseases, Membrane protein, Corticospinal tract, medicine.symptom, Hereditary Sensory and Motor Neuropathy, business, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::561f8e03c7635c57160d33384192a9e4Test
https://doi.org/10.1080/1521654032000114311Test

المؤلفون: Jean-Marc Burgunder, How-Lung Eng, Wei Cheng, Jing Tian, Walter Hunziker

المصدر: PLoS ONE, Vol 9, Iss 8, p e103445 (2014)
PLoS ONE

مصطلحات موضوعية: Movement disorders, Gene Expression, lcsh:Medicine, medicine.disease_cause, Biochemistry, Ion Channels, Animals, Genetically Modified, Gene Order, Medicine and Health Sciences, lcsh:Science, Zebrafish, Musculoskeletal System, Genetics, Mutation, Multidisciplinary, Movement Disorders, biology, Muscles, Fishes, Neurodegenerative Diseases, Animal Models, Phenotype, Cell biology, Biomechanical Phenomena, Neurology, Osteichthyes, Vertebrates, medicine.symptom, Anatomy, Locomotion, Research Article, musculoskeletal diseases, Myotonia Congenita, Recombinant Fusion Proteins, Genetic Vectors, Muscle disorder, Research and Analysis Methods, Muscle Fibers, Model Organisms, Chloride Channels, medicine, Animals, Humans, Actin, Swimming, CLCN1, Myotonia congenita, lcsh:R, Organisms, Biology and Life Sciences, Proteins, biology.organism_classification, medicine.disease, Actins, Disease Models, Animal, biology.protein, lcsh:Q

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e0505057d2bc6319fc228eb055a6c7Test
http://europepmc.org/articles/PMC4118878?pdf=renderTest

المؤلفون: Yongping Chen, R. Huang, X. P. Chen, K. Chen, J. Yang, Jean-Marc Burgunder, B. Zhao, Wei Song, Huifang Shang, Z.-Z. Zheng

المصدر: European journal of neurology. 21(1)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Adolescent, Aura, DNA Mutational Analysis, Nerve Tissue Proteins, medicine.disease_cause, Gastroenterology, Exon, Young Adult, Chorea, Internal medicine, medicine, Humans, In patient, Insertion, Age of Onset, Child, Gene, Genetics, Mutation, business.industry, Membrane Proteins, Paroxysmal dyskinesia, musculoskeletal system, Dystonia, Neurology, cardiovascular system, Female, Neurology (clinical), business, PRRT2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13f88ff53a02f70117dcfeae1035222Test
https://pubmed.ncbi.nlm.nih.gov/23496026Test

المؤلفون: G.-G. Yuan, R. Peng, Jean-Marc Burgunder, Y.-M. Xu, Y.-C. Wang, W.-J. Chen, T. Li, Z.-J. Zhang, Y. Wu, X.-K. An, Y.-R. Gou, J.-H. Zhang

المصدر: European journal of neurology. 15(3)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Genotype, Population, Glycine, Protein Serine-Threonine Kinases, Arginine, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Gastroenterology, Asian People, Polymorphism (computer science), Risk Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Risk factor, education, Aged, Genetics, Aged, 80 and over, education.field_of_study, Chi-Square Distribution, Polymorphism, Genetic, business.industry, Parkinsonism, Parkinson Disease, Odds ratio, Middle Aged, medicine.disease, LRRK2, Genotype frequency, Neurology, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4975f753c8b6c3bf2bffa1865817f56Test
https://pubmed.ncbi.nlm.nih.gov/18290841Test

المؤلفون: Jean-Marc Burgunder

المصدر: IUBMB life. 55(6)

مصطلحات موضوعية: Cysteine Endopeptidases, Proteasome Endopeptidase Complex, Multienzyme Complexes, Clinical Biochemistry, Nerve Degeneration, Genetics, Disease Progression, Humans, Neurodegenerative Diseases, Cell Biology, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57167d1fe378260aaf4e07f3653b4183Test
https://pubmed.ncbi.nlm.nih.gov/12938729Test