المؤلفون: Yongping Chen, Ke Chen, Jean-Marc Burgunder, Qianqian Wei, Jing Yang, Bei Cao, Huifang Shang

المصدر: Neurological Research. 38:916-920

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Statistics as Topic, Disease, 030105 genetics & heredity, Irritability, Neuropsychiatry, Severity of Illness Index, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Trinucleotide Repeats, Huntington's disease, Rating scale, Internal medicine, Prevalence, medicine, Humans, Apathy, Psychiatry, Retrospective Studies, Psychiatric Status Rating Scales, Huntingtin Protein, Mood Disorders, General Medicine, Middle Aged, medicine.disease, Huntington Disease, Neurology, Anxiety, Female, Neurology (clinical), Age of onset, medicine.symptom, Cognition Disorders, Psychology, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ff3cb438c946fb28c367f3d25035a4Test
https://doi.org/10.1080/01616412.2016.1214555Test

المؤلفون: Huifang Shang, Qiyong Gong, Chunyan Luo, Jing Yang, Jean-Marc Burgunder, Ke Chen, Wanglin Liu

المصدر: Parkinsonism & Related Disorders. 27:41-46

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Precuneus, behavioral disciplines and activities, Angular gyrus, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, Inferior temporal gyrus, mental disorders, medicine, Brief Psychiatric Rating Scale, Humans, Verbal fluency test, Resting state fMRI, Amplitude of low frequency fluctuations, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Huntington Disease, 030104 developmental biology, medicine.anatomical_structure, Neurology, Female, Neurology (clinical), Geriatrics and Gerontology, Cognition Disorders, Psychology, human activities, Neuroscience, 030217 neurology & neurosurgery, Stroop effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4c993756f5a888f76fdee70571e6a45Test
https://doi.org/10.1016/j.parkreldis.2016.04.017Test

المؤلفون: Jean-Marc Burgunder, Mario Wiesendanger, Deborah J. Serrien

المصدر: Serrien, Deborah J.; Burgunder, Jean-Marc; Wiesendanger, Mario (2002). Control of manipulative forces during unimanual and bimanual tasks in patients with Huntington’s disease. Experimental brain research, 143(3), pp. 328-334. Springer 10.1007/s00221-001-0992-6 <http://dx.doi.org/10.1007/s00221-001-0992-6Test>

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, 610 Medicine & health, medicine.disease_cause, Functional Laterality, Weight-bearing, Weight-Bearing, Physical medicine and rehabilitation, Huntington's disease, Hand strength, medicine, Humans, In patient, Muscle, Skeletal, Hand Strength, General Neuroscience, Motor control, Brain, Body movement, Middle Aged, medicine.disease, Control subjects, Hand, Sagittal plane, Motor Skills Disorders, medicine.anatomical_structure, Huntington Disease, Female, Psychology, Neuroscience, Muscle Contraction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2762cb16107196a4fca0bdf495451136Test
http://doc.rero.ch/record/315362/files/221_2001_Article_992.pdfTest

المؤلفون: Liliane Kappeler, André Schaller, C. Nguyen-Thi Xuan-Huong, J.F. Benoist, F. Seibold, K. Madhavi Vadday, Heinrich Mattle, Sabina Gallati, Jean-Marc Burgunder, Caspar Brekenfeld, W.M.M. Schüpbach

المصدر: Schüpbach, W; Vadday, K; Schaller, A; Brekenfeld, C; Kappeler, L; Benoist, JF; Xuan-Huong, C; Burgunder, J; Seibold, F; Gallati, S; Mattle, H (2007). Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. Journal of neurology, 254(2), pp. 146-53. Heidelberg: Steinkopff-Verlag; www.steinkopff.springer.de 10.1007/s00415-006-0255-3 <http://dx.doi.org/10.1007/s00415-006-0255-3Test>

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Magnetic Resonance Spectroscopy, Neural Conduction, Biology, Ophthalmoparesis, Leukoencephalopathy, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, Internal medicine, Diseases in Twins, medicine, Humans, Thymidine phosphorylase, Radionuclide Imaging, Myopathy, Gastrointestinal dysmotility, Thymidine Phosphorylase, medicine.diagnostic_test, Siblings, Magnetic resonance imaging, Exons, Sequence Analysis, DNA, medicine.disease, Magnetic Resonance Imaging, Corpus Striatum, Substantia Nigra, Endocrinology, Neurology, Mutation, Neurology (clinical), medicine.symptom, Polyneuropathy, Thymidine

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621d3faf22f8d20aee3d80c953f72997Test
http://doc.rero.ch/record/318521/files/415_2006_Article_255.pdfTest

المؤلفون: Simeon Schaub, Iris-Katharina Penner, Bettina Fischer-Barnicol, Jean-Marie Annoni, Özgür Yaldizli, Bettina Frey, Jana Pöttgen, Sara Bagutti, Dominik Zwahlen, Mireille Neuhaus, Marie‐ Dominique Martory, Jean-Marc Burgunder

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Multiple Sclerosis, Anxiety, Neuropsychological Tests, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Cognition, Social cognition, Theory of mind, Medicine, Raw score, Humans, 0501 psychology and cognitive sciences, Effects of sleep deprivation on cognitive performance, Psychiatry, Social Behavior, 610 Medicine & health, Depression (differential diagnoses), Facial affect, business.industry, Depression, Multiple sclerosis, 05 social sciences, Middle Aged, medicine.disease, Neurology, Social Perception, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51514869fd2dba4bdd97ab979c21dc7Test

المؤلفون: Stefan Mühlebach, Jean-Marc Nuoffer, Jean-Marc Burgunder, Lorenz Risch, Lia Bally, Zeno Stanga, Carla Aeberhard, E Aubry

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Mitochondrial Diseases, Endocrinology, Diabetes and Metabolism, Rest, Population, Nutritional Status, Disease, Clinical nutrition, Diet Surveys, Risk Assessment, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Risk Factors, Internal medicine, 540 Chemistry, medicine, Humans, Mass Screening, Resting energy expenditure, 030212 general & internal medicine, Prospective Studies, Prospective cohort study, education, 610 Medicine & health, Aged, education.field_of_study, Nutrition and Dietetics, business.industry, Malnutrition, Middle Aged, medicine.disease, Parenteral nutrition, Nutrition Assessment, Case-Control Studies, Physical therapy, Quality of Life, 570 Life sciences, biology, Female, business, Energy Metabolism, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a067fa1adc33724279c88e4b774f142Test

المؤلفون: Davide Pareyson, Jean marc Burgunder, Michelangelo Mancuso, Josef Finsterer, Thomas Klopstock

المصدر: Mitochondrion 42, 1-10 (2018). doi:10.1016/j.mito.2017.10.003

مصطلحات موضوعية: Retinal Ganglion Cells, Pathology, medicine.medical_specialty, Ophthalmoplegia, Chronic Progressive External, Visual acuity, genetic structures, Mitochondrial disease, Respiratory chain, Vision Disorders, Biology, pathology [Retinal Ganglion Cells], Retinal ganglion, Optic neuropathy, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Humans, 610 Medicine & health, Molecular Biology, medicine.diagnostic_test, pathology [Ophthalmoplegia, Chronic Progressive External], Disease Management, Optic Nerve, Cell Biology, Anatomy, medicine.disease, therapy [Ophthalmoplegia, Chronic Progressive External], eye diseases, etiology [Vision Disorders], diagnosis [Ophthalmoplegia, Chronic Progressive External], ddc:540, Mutation, 030221 ophthalmology & optometry, Optic nerve, Molecular Medicine, medicine.symptom, pathology [Optic Nerve], 030217 neurology & neurosurgery, Electroretinography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5935fa022a917be06aa7c8275559bbcdTest

المؤلفون: Jean-Marc Burgunder, S. Vez, Jean-Marie Annoni, David A. Magezi, B. Frey, J. Kohli

المصدر: Neuropsychologia. 119

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, genetic structures, Cognitive Neuroscience, media_common.quotation_subject, Experimental and Cognitive Psychology, Disease, Striatum, Audiology, Neuropsychological Tests, behavioral disciplines and activities, 050105 experimental psychology, Cohort Studies, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Huntington's disease, Perception, Basal ganglia, medicine, Humans, 0501 psychology and cognitive sciences, 610 Medicine & health, media_common, 05 social sciences, Cognition, Time perception, Middle Aged, medicine.disease, Huntington Disease, Time Perception, Auditory Perception, Disease Progression, Female, Psychology, 030217 neurology & neurosurgery, psychological phenomena and processes, Stroop effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833de38c5e83ffcb7703d1a76602a4c1Test
https://pubmed.ncbi.nlm.nih.gov/30142378Test

المؤلفون: Michel Fardeau, Shari Fallet, Silvia Torelli, Norma B. Romero, C Pollitt, Gillian Storey, Caroline Sewry, Paola Prandini, Rumaisa Bashir, Thomas Voit, Derek J. Blake, Louise V.B. Anderson, Kate Bushby, Susan C. Brown, Volker Straub, Y Yuva, Isabelle Richard, Francesco Muntoni, Ralf Herrmann, Matthew A. Benson, Jean-Marc Burgunder, Martin Brockington

المصدر: Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851 <http://dx.doi.org/10.1093/hmg/10.25.2851Test>

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Genetic Linkage, Blotting, Western, 610 Medicine & health, Polymerase Chain Reaction, Muscular Dystrophies, Muscle hypertrophy, Immunoenzyme Techniques, Fukuyama congenital muscular dystrophy, Genetics, medicine, Humans, Pentosyltransferases, Age of Onset, Muscular dystrophy, Child, Dystroglycans, Walker–Warburg syndrome, Molecular Biology, Genetics (clinical), DNA Primers, Membrane Glycoproteins, Fukutin-related protein, biology, Calpain, Infant, Proteins, General Medicine, Middle Aged, medicine.disease, Fukutin, Pedigree, Cytoskeletal Proteins, Phenotype, Haplotypes, Child, Preschool, Mutation, biology.protein, Congenital muscular dystrophy, Female, Laminin, Chromosomes, Human, Pair 19, Microsatellite Repeats, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8637abdd8a7da6e9a9ecb905ca82f74cTest
http://doc.rero.ch/record/297949/files/dde309.pdfTest

المؤلفون: Arto C. Nirkko, Karl-Olof Lövblad, Jean-Marc Burgunder, Mario Wiesendanger, Deborah J. Serrien, Thomas J. Loher

المصدر: Serrien, Deborah J; Nirkko, Arto C; Loher, Thomas J; Lövblad, Karl-Olof; Burgunder, Jean-Marc; Wiesendanger, Mario (2002). Movement control of manipulative tasks in patients with Gilles de la Tourette syndrome. Brain, 125(Pt 2), pp. 290-300. Oxford: Oxford University Press 10.1093/brain/awf024 <http://dx.doi.org/10.1093/brain/awf024Test>

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Motor Activity, Tourette syndrome, Task (project management), Physical medicine and rehabilitation, medicine, Humans, Brain Mapping, Hand Strength, medicine.diagnostic_test, Movement (music), Work (physics), Brain, Motor control, Body movement, medicine.disease, Magnetic Resonance Imaging, Functional imaging, Female, Neurology (clinical), Functional magnetic resonance imaging, Psychology, Neuroscience, Tourette Syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffd854d0f312373b452b46972733c87dTest
http://doc.rero.ch/record/292476/files/awf024.pdfTest