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: Jean-Marc Burgunder, M. Weber, Th Lauterburg, Irene Tobler

المصدر: Neuroscience Letters. 358:17-20

مصطلحات موضوعية: medicine.medical_specialty, Substantia nigra, Dynorphin, Motor Activity, Biology, Rats, Sprague-Dawley, Dopamine receptor D1, Dopamine, Dopamine receptor D2, Internal medicine, medicine, Animals, Neurotransmitter Agents, Tyrosine hydroxylase, General Neuroscience, Dopaminergic, Brain, Circadian Rhythm, Rats, Receptors, Neurotransmitter, Ventral tegmental area, Endocrinology, medicine.anatomical_structure, Gene Expression Regulation, Neuroscience, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fdecc9b1ec678973c8488de23457cdTest
https://doi.org/10.1016/j.neulet.2003.12.053Test

المؤلفون: Li-Yen Lee, Akhlaq A. Farooqui, Gavin S. Dawe, Wei-Yi Ong, Jean-Marc Burgunder

المصدر: Neuroscience Letters. 453:6-8

مصطلحات موضوعية: Male, Reflex, Startle, medicine.medical_specialty, Phospholipase A2 Inhibitors, Striatum, Phospholipase A2, Internal medicine, Moro reflex, medicine, Animals, Enzyme Inhibitors, Rats, Wistar, Prepulse inhibition, Analysis of Variance, Phospholipase A, biology, Chemistry, General Neuroscience, Oligonucleotides, Antisense, Startle reaction, Rats, Phospholipases A2, Endocrinology, Acoustic Stimulation, Quinacrine, Acoustic Startle Reflex, Phospholipases A2, Calcium-Independent, Reflex, biology.protein, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd83756bcd4d5c25bafaaa498dab49c8Test
https://doi.org/10.1016/j.neulet.2009.01.069Test

المؤلفون: Jean-Marc Burgunder, A. Richter, W. Löscher

المصدر: Experimental Brain Research. 129:114-120

مصطلحات موضوعية: Central Nervous System, medicine.medical_specialty, Tyrosine 3-Monooxygenase, Glutamate decarboxylase, Gene Expression, Hamster, Substantia nigra, Striatum, Biology, GAP-43 Protein, Cricetinae, Internal medicine, Basal ganglia, medicine, Animals, RNA, Messenger, Thyrotropin-Releasing Hormone, Mesocricetus, Tyrosine hydroxylase, Glutamate Decarboxylase, General Neuroscience, Hormones, Enzymes, Dystonia, Endocrinology, Cholecystokinin, Somatostatin, Pars reticulata, Golden hamster

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb3cab505da4ab93092f15ed9f0f75eaTest
https://doi.org/10.1007/s002210050941Test

المؤلفون: Gian Paolo Ramelli, Joachim Weis, Sabina Gallati, Jean-Marc Burgunder, Stephan Krähenbühl

المصدر: Journal of Child Neurology. 21:253-255

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Ataxia, Muscular hypotonia, Hearing loss, Point mutation, Respiratory chain complex, Biology, medicine.disease, Short stature, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, 030225 pediatrics, Internal medicine, Diabetes mellitus, Pediatrics, Perinatology and Child Health, medicine, Sensorineural hearing loss, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9b44ba3cfb4bba5311348c149659ee76Test
https://doi.org/10.2310/7010.2006.00047Test

المؤلفون: Jean-Marc Burgunder

المصدر: Developmental Brain Research. 78:109-122

مصطلحات موضوعية: medicine.medical_specialty, Central nervous system, Gene Expression, In situ hybridization, Biology, Rats, Sprague-Dawley, Diencephalon, Prosencephalon, Developmental Neuroscience, Pregnancy, Internal medicine, medicine, Animals, RNA, Messenger, In Situ Hybridization, Cerebral Cortex, Neocortex, Histocytochemistry, Cerebrum, Allocortex, Rats, medicine.anatomical_structure, Endocrinology, Somatostatin, nervous system, Forebrain, Autoradiography, Female, Oligonucleotide Probes, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a09f36cdc84ca10e81fc95fc726903e3Test
https://doi.org/10.1016/0165-3806Test(94)90015-9

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: W. Scott Young, Jean-Marc Burgunder

المصدر: Developmental Brain Research. 52:85-93

مصطلحات موضوعية: medicine.medical_specialty, Tyrosine 3-Monooxygenase, Ontogeny, Substantia nigra, Biology, Midbrain, Embryonic and Fetal Development, Developmental Neuroscience, Mesencephalon, Dopamine, Internal medicine, medicine, Animals, RNA, Messenger, Gene, Tyrosine hydroxylase, Nucleic Acid Hybridization, Rats, Inbred Strains, Molecular biology, Rats, Ventral tegmental area, Endocrinology, medicine.anatomical_structure, Gene Expression Regulation, nervous system, Immunohistochemistry, Cholecystokinin, Developmental Biology, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::856f9c892b12f1afea714f261e94d40fTest
https://doi.org/10.1016/0165-3806Test(90)90224-m

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

المؤلفون: Li-Yen Lee, Akhlaq A. Farooqui, Wei-Yi Ong, Jean-Marc Burgunder

المصدر: Lee, Li-Yen; Ong, Wei-Yi; Farooqui, Akhlaq A; Burgunder, Jean-Marc (2007). Role of calcium-independent phospholipase A2 in cortex striatum thalamus cortex circuitry-enzyme inhibition causes vacuous chewing movements in rats. Psychopharmacology, 195(3), pp. 387-95. Berlin: Springer 10.1007/s00213-007-0912-y <http://dx.doi.org/10.1007/s00213-007-0912-yTest>

مصطلحات موضوعية: Male, medicine.medical_specialty, Cerebellum, Phosphodiesterase Inhibitors, Central nervous system, Thalamus, Organophosphonates, chemistry.chemical_element, Striatum, Arachidonic Acids, Biology, Calcium, Naphthalenes, Dopamine Uptake Inhibitors, Internal medicine, Cortex (anatomy), Basal ganglia, medicine, Animals, Enzyme Inhibitors, Rats, Wistar, Pharmacology, Benztropine, Cerebral Cortex, Behavior, Animal, Drug Administration Routes, Oligonucleotides, Antisense, Corpus Striatum, Rats, medicine.anatomical_structure, Endocrinology, nervous system, chemistry, Cerebral cortex, Organ Specificity, Pyrones, Phospholipases A2, Calcium-Independent, Stereotyped Behavior, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25babd4f6fd63dcb641e59b2d1647178Test
https://pubmed.ncbi.nlm.nih.gov/17768607Test