لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: van den Maagdenberg AM, Pizzorusso T, Kaja S, Terpolilli N, Shapovalova M, Hoebeek FE, Barrett CF, Gherardini L, van de Ven RC, Todorov B, Broos LA, Tottene A, Gao Z, Fodor M, De Zeeuw CI, Frants RR, Plesnila N, Plomp JJ, Pietrobon D, Ferrari MD

المصدر: Annals of Neurology; Jan2010, Vol. 67 Issue 1, p85-98, 14p

المؤلفون: Arn M. J. M. van den Maagdenberg, Jan B. Koenderink, Michel D. Ferrari, Virginia Barone, Kaate R J Vanmolkot, Ulku Turk, Giorgio Casari, Sima Kheradmand Kia, Dylsad Turkdogan, David F. Black, Joost Haan, E. E. Kors, Ludo A. M. Broos, Jeroen J. M. W. van den Heuvel, Antoine Keyser, Rune R. Frants

المساهمون: Vanmolkot, Kr, Kors, Ee, Turk, U, Turkdogan, D, Keyser, A, Broos, La, Kia, Sk, van den Heuvel, Jj, Black, Df, Haan, J, Frants, Rr, Barone, V, Ferrari, Md, Casari, GIORGIO NEVIO, Koenderink, Jb, van den Maagdenberg, Am

المصدر: European Journal of Human Genetics, 14, 555-60
European Journal of Human Genetics, 14, 5, pp. 555-60

مصطلحات موضوعية: Male, Migraine Disorders, Molecular Sequence Data, Hemiplegia, Biology, medicine.disease_cause, ATP1A2, Perception and Action [DCN 1], Genetics, medicine, Humans, Missense mutation, familial hemiplegic migraine, Na, Amino Acid Sequence, Gene, Genetics (clinical), Familial hemiplegic migraine, Mutation, Sequence Homology, Amino Acid, Chromosome, Middle Aged, medicine.disease, Renal disorders [UMCN 5.4], K-ATPase, Migraine, Chromosomes, Human, Pair 1, Mutation testing, Female, Sodium-Potassium-Exchanging ATPase, Functional Neurogenomics [DCN 2], HeLa Cells

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5998c611f6b4064adb7cdf05dfce805b

المؤلفون: Rutten JW; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. j.w.rutten@lumc.nl., Klever RR; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. r.r.klever@lumc.nl., Hegeman IM; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. i.m.hegeman@lumc.nl., Poole DS; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands. d.poole@lumc.nl., Dauwerse HG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. j.g.dauwerse@lumc.nl.; Department of Clinical Genetics, K5-R, Leiden University Medical Center, PO Box 9600, 2300, RC, Leiden, The Netherlands. j.g.dauwerse@lumc.nl., Broos LA; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. l.a.m.broos@lumc.nl., Breukel C; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. c.breukel@lumc.nl., Aartsma-Rus AM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. a.m.aartsma-rus@lumc.nl., Verbeek JS; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. j.s.verbeek@lumc.nl., van der Weerd L; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. L.van_der_Weerd@lumc.nl.; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands. L.van_der_Weerd@lumc.nl., van Duinen SG; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. S.G.van_Duinen@lumc.nl., van den Maagdenberg AM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. A.M.J.M.van_den_Maagdenberg@lumc.nl.; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. A.M.J.M.van_den_Maagdenberg@lumc.nl., Lesnik Oberstein SA; Department of Clinical Genetics, K5-R, Leiden University Medical Center, PO Box 9600, 2300, RC, Leiden, The Netherlands. lesnik@lumc.nl.

المصدر: Acta neuropathologica communications [Acta Neuropathol Commun] 2015 Dec 29; Vol. 3, pp. 89. Date of Electronic Publication: 2015 Dec 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

مواضيع طبية MeSH: Brain/*pathology , CADASIL/*genetics , Gene Expression Regulation/*genetics , Mutation/*genetics , Receptors, Notch/*genetics , Receptors, Notch/*metabolism, Age Factors ; Analysis of Variance ; Animals ; Brain/metabolism ; CADASIL/metabolism ; CADASIL/pathology ; DNA Mutational Analysis ; Disease Models, Animal ; Humans ; Magnetic Resonance Imaging ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Microscopy, Electron ; RNA, Messenger/metabolism ; Receptor, Notch3

المؤلفون: de Vries B; Department of Human Genetics, Leiden University Medical Centre, The Netherlands., Eising E, Broos LA, Koelewijn SC, Todorov B, Frants RR, Boer JM, Ferrari MD, Hoen PA, van den Maagdenberg AM

المصدر: Cephalalgia : an international journal of headache [Cephalalgia] 2014 Mar; Vol. 34 (3), pp. 174-82. Date of Electronic Publication: 2013 Aug 28.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Country of Publication: England NLM ID: 8200710 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2982 (Electronic) Linking ISSN: 03331024 NLM ISO Abbreviation: Cephalalgia Subsets: MEDLINE

مواضيع طبية MeSH: Brain/*physiopathology , Calcium Channels, N-Type/*genetics , Cerebellar Ataxia/*genetics , Cerebellum/*physiopathology , Cerebral Cortex/*physiopathology , Migraine Disorders/*genetics , Nerve Tissue Proteins/*genetics , RNA/*metabolism, Animals ; Cerebellar Ataxia/metabolism ; Female ; Gene Expression Profiling ; Gene Expression Regulation/genetics ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mice, Transgenic ; Migraine Disorders/metabolism ; Mutation ; RNA/genetics ; Tissue Distribution ; Transcriptome/genetics

SCR Disease Name: Hemiplegic migraine, familial type 1

المؤلفون: Kaja S; Department of Neurology, Leiden Univ. Medical Ctr., Leiden, The Netherlands., Van de Ven RC, Broos LA, Frants RR, Ferrari MD, Van den Maagdenberg AM, Plomp JJ

المصدر: Journal of neurophysiology [J Neurophysiol] 2010 Sep; Vol. 104 (3), pp. 1445-55. Date of Electronic Publication: 2010 Jul 14.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 0375404 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1598 (Electronic) Linking ISSN: 00223077 NLM ISO Abbreviation: J Neurophysiol Subsets: MEDLINE

مواضيع طبية MeSH: Disease Progression* , Gene Knock-In Techniques* , Severity of Illness Index*, Acetylcholine/*metabolism , Calcium Channels, P-Type/*genetics , Calcium Channels, Q-Type/*genetics , Migraine with Aura/*genetics, Animals ; Calcium Channels, N-Type ; Calcium Channels, P-Type/biosynthesis ; Calcium Channels, Q-Type/biosynthesis ; Female ; Male ; Mice ; Mice, Transgenic ; Migraine with Aura/metabolism ; Miniature Postsynaptic Potentials/physiology ; Neuromuscular Junction/metabolism ; Neurotransmitter Agents/metabolism ; Synaptic Transmission/genetics

المؤلفون: Klychnikov OI; Department of Parasitology, Leiden University Medical Center, Leiden, The Netherlands., Li KW, Sidorov IA, Loos M, Spijker S, Broos LA, Frants RR, Ferrari MD, Mayboroda OA, Deelder AM, Smit AB, van den Maagdenberg AM

المصدر: Proteomics [Proteomics] 2010 Jul; Vol. 10 (13), pp. 2531-5.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 101092707 Publication Model: Print Cited Medium: Internet ISSN: 1615-9861 (Electronic) Linking ISSN: 16159853 NLM ISO Abbreviation: Proteomics Subsets: MEDLINE

مواضيع طبية MeSH: Calcium Channels, N-Type/*metabolism , Migraine Disorders/*metabolism , Synapses/*chemistry, Animals ; Calcium Channels, N-Type/genetics ; Disease Models, Animal ; Mice ; Mice, Transgenic ; Mutation ; Proteomics ; Signal Transduction ; Synapses/metabolism

المؤلفون: Kaja S; Department of Neurology, Leiden University Medical Centre, P.O. Box 9600, 2300 RC Leiden, The Netherlands., van de Ven RC, Broos LA, Frants RR, Ferrari MD, van den Maagdenberg AM, Plomp JJ

المصدر: Neuroscience [Neuroscience] 2007 Feb 23; Vol. 144 (4), pp. 1278-87. Date of Electronic Publication: 2006 Dec 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 7605074 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0306-4522 (Print) Linking ISSN: 03064522 NLM ISO Abbreviation: Neuroscience Subsets: MEDLINE

مواضيع طبية MeSH: Acetylcholine/*metabolism , Calcium Channels/*genetics , Calcium Channels, N-Type/*genetics , Neuromuscular Junction/*genetics , Neuromuscular Junction/*metabolism , Synaptic Transmission/*genetics, Adaptation, Physiological/genetics ; Animals ; Calcium Channels, R-Type/genetics ; Cation Transport Proteins/genetics ; Mice ; Mice, Knockout ; Mice, Neurologic Mutants ; Muscle Fibers, Skeletal/metabolism ; Muscle, Skeletal/innervation ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/physiopathology ; Muscular Atrophy/genetics ; Muscular Atrophy/metabolism ; Muscular Atrophy/physiopathology ; Mutation/genetics ; Neuromuscular Junction/physiopathology ; Protein Subunits/genetics

المؤلفون: Todorov B; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., van de Ven RC, Kaja S, Broos LA, Verbeek SJ, Plomp JJ, Ferrari MD, Frants RR, van den Maagdenberg AM

المصدر: Genesis (New York, N.Y. : 2000) [Genesis] 2006 Dec; Vol. 44 (12), pp. 589-94.

نوع المنشور: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 100931242 Publication Model: Print Cited Medium: Print ISSN: 1526-954X (Print) Linking ISSN: 1526954X NLM ISO Abbreviation: Genesis Subsets: MEDLINE

مواضيع طبية MeSH: Gene Silencing*, Calcium Channels, P-Type/*genetics , Calcium Channels, Q-Type/*genetics , RNA/*metabolism, Animals ; Blotting, Northern ; Calcium Channels, N-Type ; DNA Primers ; Electrophysiology ; Gene Components ; Mice ; Mice, Transgenic ; Neuromuscular Junction/genetics ; Neurotransmitter Agents/metabolism ; RNA/genetics ; Synapses/genetics

المؤلفون: Kaja S; Department of Neurology and Clinical Neurophysiology, Albinusdreef 2, 2333 ZA Leiden, The Netherlands., van de Ven RC, Broos LA, Veldman H, van Dijk JG, Verschuuren JJ, Frants RR, Ferrari MD, van den Maagdenberg AM, Plomp JJ

المصدر: Neuroscience [Neuroscience] 2005; Vol. 135 (1), pp. 81-95.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 7605074 Publication Model: Print Cited Medium: Print ISSN: 0306-4522 (Print) Linking ISSN: 03064522 NLM ISO Abbreviation: Neuroscience Subsets: MEDLINE

مواضيع طبية MeSH: Gene Dosage*, Calcium Channels, P-Type/*genetics , Calcium Channels, Q-Type/*genetics , Muscle Weakness/*genetics , Neuromuscular Junction/*metabolism , Neurotransmitter Agents/*metabolism , Synapses/*metabolism , Synapses/*ultrastructure, Acetylcholine/metabolism ; Aging/physiology ; Animals ; Apoptosis/physiology ; Bungarotoxins ; Calcium Channels, N-Type ; Coloring Agents ; Electric Stimulation ; Electromyography ; Electrophysiology ; Hand Strength/physiology ; Humans ; Image Processing, Computer-Assisted ; Mice ; Mice, Transgenic ; Microscopy, Electron ; Muscle Contraction/physiology ; Muscle Weakness/physiopathology ; Synaptic Transmission/physiology