نتائج البحث - "E. R. Brunt"

1

Clinical spectrum of ataxia-telangiectasia in adulthood

المؤلفون: M.M.M. Verhagen, W. F. Abdo, M. A.A.P. Willemsen, F. B.L. Hogervorst, D. F.C.M. Smeets, J. A.P. Hiel, E. R. Brunt, M. A. van Rijn, D. Majoor Krakauer, R. A. Oldenburg, A. Broeks, J. I. Last, L. J. van't Veer, M. A.J. Tijssen, A. M.I. Dubois, H. P.H. Kremer, C. M.R. Weemaes, A. M.R. Taylor, M. van Deuren

المساهمون: Amsterdam Neuroscience, Neurology, Pharmacy, Clinical Genetics

المصدر: Neurology, 73, 6, pp. 430-7
Neurology, 73(6), 430-437. Lippincott Williams and Wilkins
Neurology, 73(6), 430-437. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 73, 430-7
Neurology, 73(6), 430-437. Lippincott Williams & Wilkins

مصطلحات موضوعية: Adult, Male, EXPRESSION, Pathology, medicine.medical_specialty, VARIANT, Biology, medicine.disease_cause, PHENOTYPE, Genomic disorders and inherited multi-system disorders [IGMD 3], Ataxia Telangiectasia, Young Adult, SDG 3 - Good Health and Well-being, Chromosome instability, Genotype, medicine, KINASE, Perception and Action [DCN 1], Humans, Missense mutation, Kinase activity, Retrospective Studies, Chromosome 7 (human), Mutation, Cerebellar ataxia, Age Factors, Genetic Variation, Middle Aged, medicine.disease, ATM MUTATIONS, GENE, CANCER, GENOTYPE, 5762INS137, Pathogenesis and modulation of inflammation [N4i 1], Ataxia-telangiectasia, CELLS, Cancer research, Female, Neurology (clinical), medicine.symptom

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe0471cd48af28f57e2acfe6eec3b83Test
https://doi.org/10.1212/wnl.0b013e3181af33bdTest

2

Polyglutamine aggregation in Huntington's disease and spinocerebellar ataxia type 3: similar mechanisms in aggregate formation

المؤلفون: K, Seidel, S, Siswanto, M, Fredrich, M, Bouzrou, E R, Brunt, F W, van Leeuwen, H H, Kampinga, H-W, Korf, U, Rüb, W F A, den Dunnen

المصدر: Neuropathology and applied neurobiology. 42(2)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Neurons, Intranuclear Inclusion Bodies, Brain, Machado-Joseph Disease, Middle Aged, Immunohistochemistry, Protein Aggregation, Pathological, Huntington Disease, Nerve Degeneration, Humans, Female, Peptides, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a4d4d1d02423bd181068ddf5c557dfa9Test
https://pubmed.ncbi.nlm.nih.gov/26095752Test

3

Involvement of the cholinergic basal forebrain nuclei in spinocerebellar ataxia type 2 (SCA2)

المؤلفون: U, Rüb, K, Farrag, K, Seidel, E R, Brunt, H, Heinsen, K, Bürk, B, Melegh, C, von Gall, G, Auburger, J, Bohl, H W, Korf, F, Hoche, W, den Dunnen

المصدر: Neuropathology and applied neurobiology. 39(6)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Middle Aged, Diagonal Band of Broca, Cholinergic Neurons, Young Adult, Alzheimer Disease, Basal Nucleus of Meynert, Humans, Spinocerebellar Ataxias, Female, Septal Nuclei, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5930728d38b5f5a2656931719de3aedeTest
https://pubmed.ncbi.nlm.nih.gov/23363055Test

4

Levels of DNAJB family members (HSP40) correlate with disease onset in patients with spinocerebellar ataxia type 3

المؤلفون: M P, Zijlstra, M A, Rujano, M A, Van Waarde, E, Vis, E R, Brunt, H H, Kampinga

المصدر: The European journal of neuroscience. 32(5)

مصطلحات موضوعية: Adult, Male, Cell Culture Techniques, Nuclear Proteins, Nerve Tissue Proteins, Machado-Joseph Disease, Fibroblasts, HSP40 Heat-Shock Proteins, Middle Aged, Cell Line, Up-Regulation, Repressor Proteins, Humans, Female, Age of Onset, Ataxin-3, Trinucleotide Repeat Expansion, Heat-Shock Proteins, Aged, Cell Line, Transformed

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::970b64a2a9910b02b37603328ab344b9Test
https://pubmed.ncbi.nlm.nih.gov/21105262Test

5

Neuronal intranuclear inclusions, dysregulation of cytokine expression and cell death in spinocerebellar ataxia type 3

المؤلفون: B O, Evert, J, Schelhaas, H, Fleischer, R A I, de Vos, E R, Brunt, W, Stenzel, T, Klockgether, U, Wüllner

المصدر: Clinical neuropathology. 25(6)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::db67e16edac069e1c0168e34d8cb2878Test
https://pubmed.ncbi.nlm.nih.gov/17140157Test

6

Degeneration of the central vestibular system in spinocerebellar ataxia type 3 (SCA3) patients and its possible clinical significance

المؤلفون: U, Rüb, E R, Brunt, R A I, de Vos, D, Del Turco, K, Del Tredici, K, Gierga, C, Schultz, E, Ghebremedhin, K, Bürk, G, Auburger, H, Braak

المصدر: Neuropathology and applied neurobiology. 30(4)

مصطلحات موضوعية: Male, Silver Staining, Tissue Fixation, Machado-Joseph Disease, Middle Aged, Vestibular Nuclei, Nerve Fibers, Trinucleotide Repeats, Astrocytes, Nerve Degeneration, Neural Pathways, Humans, Female, Vestibule, Labyrinth, Age of Onset, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d31e6986d61b0e9ec1b36b0b70f6c89fTest
https://pubmed.ncbi.nlm.nih.gov/15305986Test

7

Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient

المؤلفون: U, Rüb, E R, Brunt, D, Del Turco, R A I, de Vos, K, Gierga, H, Paulson, H, Braak

المصدر: Neuropathology and applied neurobiology. 29(1)

مصطلحات موضوعية: Adult, Male, Pathology, Humans, Machado-Joseph Disease, Middle Aged, Deglutition Disorders, Trigeminal Nuclei, Brain Stem, Deglutition

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ad6c6b499bee68cc627e195641cb23d8Test
https://pubmed.ncbi.nlm.nih.gov/12581335Test

8

Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene

المؤلفون: A M J M, van den Maagdenberg, E E, Kors, E R, Brunt, W, van Paesschen, J, Pascual, D, Ravine, S, Keeling, K R J, Vanmolkot, F L M G, Vermeulen, G M, Terwindt, J, Haan, R R, Frants, M D, Ferrari

المصدر: Journal of neurology. 249(11)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c633e16bab25943f8e9ecc0f71d5f1e5Test
https://pubmed.ncbi.nlm.nih.gov/12420090Test

9

A six-month multicentre, double-blind, bromocriptine-controlled study of the safety and efficacy of ropinirole in the treatment of patients with Parkinson's disease not optimally controlled by L-dopa

المؤلفون: E R, Brunt, D J, Brooks, A D, Korczyn, J-L, Montastruc, F, Stocchi

المصدر: Journal of neural transmission (Vienna, Austria : 1996). 109(4)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Dyskinesia, Drug-Induced, Indoles, Hallucinations, Parkinson Disease, Middle Aged, Antiparkinson Agents, Levodopa, Logistic Models, Double-Blind Method, Odds Ratio, Humans, Drug Therapy, Combination, Female, Bromocriptine, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4e324cb7133938efc5b17912a8162475Test
https://pubmed.ncbi.nlm.nih.gov/11956968Test

10

Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000

المؤلفون: K J, Swoboda, B W, Soong, C, McKenna, E R, Brunt, M, Litt, J F, Bale, T, Ashizawa, L B, Bennett, A M, Bowcock, E S, Roach, D, Gerson, T, Matsuura, P T, Heydemann, M P, Nespeca, J, Jankovic, M, Leppert, L J, Ptácek

المصدر: Neurology. 57(11 Suppl 4)

مصطلحات موضوعية: Chorea, Genetic Linkage, Chromosome Mapping, Humans, History, 20th Century, Epilepsy, Benign Neonatal, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6def631be9a0d1cefdbb2b102bb3ba5bTest
https://pubmed.ncbi.nlm.nih.gov/11775608Test

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