المؤلفون: Jean-Marc Burgunder

المصدر: Drug Discovery Today. 19:985-989

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Disease, Benign hereditary chorea, Huntington's disease, Chorea, mental disorders, Drug Discovery, Animals, Humans, Medicine, Genetic Testing, Pharmacology, Genetics, Dyskinesias, business.industry, Paroxysmal dyskinesia, medicine.disease, nervous system diseases, Huntington Disease, Mutation, Dynamic mutation, Spinocerebellar ataxia, medicine.symptom, business, PRRT2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714ba0f1a95ebbf61b0da6249e7e34deTest
https://doi.org/10.1016/j.drudis.2014.03.005Test

المؤلفون: Jean-Marc Burgunder, Josef Finsterer

المصدر: European Journal of Medical Genetics. 57:103-112

مصطلحات موضوعية: Genetics, SOD1, General Medicine, Disease, Biology, medicine.disease, Spinal muscular atrophies, Phenotype, TARDBP, DCTN1, C9orf72, Mutation, medicine, Humans, Genetic Predisposition to Disease, Motor Neuron Disease, Amyotrophic lateral sclerosis, Genetic Association Studies, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d2cc7b4100c6e162a8d2ef3ba24cc4Test
https://doi.org/10.1016/j.ejmg.2014.01.002Test

المؤلفون: John Dunlop, Nancy Van Hoylandt, Manfred Westphal, Amir Inamdar, David Nutt, Jean Marc Burgunder, Philip Gorwood, Wolfgang Wick, Martin J. van den Bent, Michael Weller, Stefan M. Pfister, Roland Pochet, Giovanni Esposito

المساهمون: University of Zurich

المصدر: Public health genomics. 19(3)

مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, medicine.medical_specialty, 2716 Genetics (clinical), Drug Industry, medicine.medical_treatment, 610 Medicine & health, Disease, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Health care, medicine, Humans, Precision Medicine, Intensive care medicine, Psychiatry, Genetics (clinical), Depression (differential diagnoses), Brain Diseases, business.industry, Public Health, Environmental and Occupational Health, 2739 Public Health, Environmental and Occupational Health, medicine.disease, 10040 Clinic for Neurology, 030104 developmental biology, Early Diagnosis, Drug development, Schizophrenia, Mutation, Identification (biology), Neurosurgery, Patient Participation, business, 030217 neurology & neurosurgery

وصف الملف: Gene Tailored Treatments For Brain Disorders - EBC REV - 04032016.pdf - application/pdf; 446338.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f9c36631a210a11ce71da48badcb3cfTest
https://pubmed.ncbi.nlm.nih.gov/27238144Test

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: Zhenzhen Zheng, Yuan Yang, Yongping Chen, Rui Huang, Jean-Marc Burgunder, Huifang Shang, Xueping Chen, Qianqian Wei

المصدر: Parkinsonismrelated disorders. 20(8)

مصطلحات موضوعية: Adult, Male, Mutation rate, Spastin, Adolescent, Hereditary spastic paraplegia, DNA Mutational Analysis, medicine.disease_cause, Exon, Asian People, Medicine, Missense mutation, Humans, Multiplex ligation-dependent probe amplification, Age of Onset, Child, Genetics, Adenosine Triphosphatases, Mutation, Base Sequence, business.industry, Spastic Paraplegia, Hereditary, Point mutation, Infant, Middle Aged, medicine.disease, Pedigree, Neurology, Child, Preschool, Female, Neurology (clinical), Geriatrics and Gerontology, business, Multiplex Polymerase Chain Reaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d44ef432e76a485755e57e74374483bbTest
https://pubmed.ncbi.nlm.nih.gov/24824479Test

المؤلفون: Jamilé Hazan, Alexis Brice, Jean Weissenbach, Nuria Fonknechten, François Artiguenave, Bertrand Fontaine, Delphine Mavel, Jean-Marc Burgunder, Roland Heilig, Jean-François Prud'homme, Corinne Cruaud, Valérie Barbe, Laurence Cattolico, Delphine Samson, Philippe Brottier, Patrick Wincker, Caroline Paternotte, Claire-Sophie Davoine, Alexandra Durr

المصدر: Nature Genetics. 23:296-303

مصطلحات موضوعية: Candidate gene, Spastin, Protein family, Positional cloning, Sequence analysis, Hereditary spastic paraplegia, Amino Acid Motifs, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Biology, Oxidative Phosphorylation, Mice, Genetics, medicine, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Cells, Cultured, Adenosine Triphosphatases, Expressed Sequence Tags, Base Sequence, Sequence Homology, Amino Acid, Paraplegin, Spastic Paraplegia, Hereditary, Exons, medicine.disease, Introns, Mitochondria, Muscle, Mutation, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79290d72b6271efc20e034052a4bec6eTest
https://doi.org/10.1038/15472Test

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: Zijuan, Zhang, Jean-Marc, Burgunder, Xingkai, An, Yan, Wu, Wenjun, Chen, Jinhong, Zhang, Yingcheng, Wang, Yanming, Xu, Yingru, Gou, Guanggu, Yuan, Xueye, Mao, Rong, Peng

المصدر: Movement disorders : official journal of the Movement Disorder Society. 24(13)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Adolescent, Genotype, Proline, DNA Mutational Analysis, Parkinson Disease, Middle Aged, Protein Serine-Threonine Kinases, Arginine, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Young Adult, Asian People, Gene Frequency, Mutation, Humans, Female, Genetic Predisposition to Disease, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::86240a2b354239f13dee6ac6b0ef9014Test
https://pubmed.ncbi.nlm.nih.gov/19672984Test

المؤلفون: Kai M. Rösler, Séverine Petitprez, Lie Chen, Liliane Kappeler, D Schorderet, Hugues Abriel, Jean-Marc Burgunder, L Tiab

المصدر: Neurology. 71(21)

مصطلحات موضوعية: medicine.medical_specialty, Nav1.4, DNA Mutational Analysis, Transfection, Sodium Channels, Cell Line, Membrane Potentials, Myotonia, Internal medicine, medicine, Humans, Hyperkalemic periodic paralysis, Patch clamp, Isoleucine, NAV1.4 Voltage-Gated Sodium Channel, Membrane potential, Family Health, biology, Sodium channel, Valine, medicine.disease, Cell biology, Transmembrane domain, Protein Subunits, Endocrinology, Paramyotonia congenita, Mutation, biology.protein, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677b1aeb0f489949f8a9ef705e45ab19Test
https://pubmed.ncbi.nlm.nih.gov/19015483Test

المؤلفون: Benjamin K.C. Ong, Raymond C.S. Seet, Roland Baur, Chew Soh Eng, Shang Huifang, Erle C.H. Lim, Walter Hunziker, Pascal Béguin, Erwin Sigel, Jean-Marc Burgunder

المصدر: Neuromuscular disorders : NMD. 18(8)

مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, China, DNA, Complementary, Adolescent, Xenopus, Pain, Biology, Compound heterozygosity, medicine.disease_cause, Myotonia, Variable features, Chloride Channels, Internal medicine, medicine, Animals, Humans, Muscle, Skeletal, Exercise, Genetics (clinical), Genetics, Neurologic Examination, CLCN1, Mutation, Myotonia congenita, Electromyography, Reverse Transcriptase Polymerase Chain Reaction, medicine.disease, biology.organism_classification, Electrophysiology, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Chloride channel, biology.protein, Oocytes, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c2fdf4dfca35d7248e8e99f8ec0c33Test
https://pubmed.ncbi.nlm.nih.gov/18579381Test