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: 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: 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: Jean-Marc Burgunder, Soh-Eng Chew, Benjamin K.C. Ong, Yee Cheun Chan, Einar Wilder-Smith, Karen M.J. Lam-Mok-Sing, Vivek Sharma

المصدر: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 15(8)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Migraine with Aura, Germline mosaicism, Electroencephalography, Asymptomatic, Leucine, Seizures, Physiology (medical), Serine, Medicine, Humans, Child, Familial hemiplegic migraine, Family Health, medicine.diagnostic_test, business.industry, General Medicine, medicine.disease, Magnetic Resonance Imaging, Migraine with aura, Hemiparesis, Neurology, Cortical spreading depression, Anesthesia, Mutation (genetic algorithm), Mutation, Surgery, Female, Neurology (clinical), Calcium Channels, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234f19024374be0a8e122391fe82ca49Test
https://pubmed.ncbi.nlm.nih.gov/18313928Test

المؤلفون: Jean-Marc Burgunder, P. Kathirvel, Louis C.S. Tan, Roland Dominic G. Jamora, Chun-Ping Liu, Eng-King Tan

المصدر: Journal of the neurological sciences. 247(1)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Movement disorders, India, Neurological disorder, medicine.disease_cause, White People, Central nervous system disease, Exon, Asian People, Internal medicine, medicine, Humans, Gene, Sequence Deletion, Dystonia, Mutation, Singapore, business.industry, Malaysia, Middle Aged, medicine.disease, Surgery, Neurology, Dystonic Disorders, Neurology (clinical), medicine.symptom, business, Dystonic disorder, Molecular Chaperones

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a0ea1ffaac55a3f3abfc1a3eff984b4Test
https://pubmed.ncbi.nlm.nih.gov/16631205Test

المؤلفون: Lie Chen, Franziska Joncourt, D. Lang, Sabina Gallati, Jean-Marc Burgunder, X.W. Ran

المصدر: European neurology. 49(4)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, DNA Mutational Analysis, Hypokalemic Periodic Paralysis, Familial periodic paralysis, Bioinformatics, Polymerase Chain Reaction, Genetic determinism, Hypokalemic periodic paralysis, Internal medicine, CACNA1S gene, medicine, Humans, Polymorphism, Single-Stranded Conformational, Polymorphism, Genetic, business.industry, Incidence, Thyrotoxic periodic paralysis, Periodic paralysis, Middle Aged, medicine.disease, Molecular analysis, Endocrinology, Thyrotoxicosis, Neurology, Chromosomes, Human, Pair 1, Mutation, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ebc6837362ee450f644b2dde29222cTest
https://pubmed.ncbi.nlm.nih.gov/12736539Test