نتائج البحث - "Mitochondrial medicine [IGMD 8]"

1

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype

المؤلفون: Anna-Elina Lehesjoki, Sascha Vermeer, Eva Morava, M. Horvers, Michèl A.A.P. Willemsen, B.P.C. van de Warrenburg, Anna-Kaisa Anttonen, Saskia B. Wortmann

المصدر: European Journal of Paediatric Neurology, 17, 199-203
European Journal of Paediatric Neurology, 17, 2, pp. 199-203

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, DCN MP - Plasticity and memory, Marinesco–Sjögren syndrome, Disease, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Cataracts, Intellectual disability, medicine, Guanine Nucleotide Exchange Factors, Humans, Child, Myopathy, Spinocerebellar Degenerations, 030304 developmental biology, 0303 health sciences, Cerebellar ataxia, business.industry, Autosomal recessive cerebellar ataxia, General Medicine, medicine.disease, eye diseases, 3. Good health, Phenotype, Mitochondrial medicine [IGMD 8], Peripheral neuropathy, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d60b5fb607dcadd4f7e5cbc7c213ebcTest
https://doi.org/10.1016/j.ejpn.2012.09.007Test

2

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

المؤلفون: Nicole I. Wolf, Richard J. Rodenburg, Patrick Ferreira, Peter Heutink, Truus E.M. Abbink, Leo G.J. Nijtmans, Dietz Rating, Adeline Vanderver, Roelineke J. Lunsing, Hugo A. Arroyo, Sietske H. Kevelam, Anne Mitchell, Marjo S. van der Knaap, Carola G.M. van Berkel

المساهمون: Other departments, Pediatric surgery, Human genetics, NCA - Brain mechanisms in health and disease, Faculteit Medische Wetenschappen/UMCG, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease

المصدر: ResearcherID
Neurology, 80(17), 1577-1583. Lippincott Williams and Wilkins
Neurology, 80, 17, pp. 1577-83
Kevelam, S H G, Rodenburg, R J, Wolf, N I, Ferreira, P, Lunsing, R J, Nijtmans, L G, Mitchell, A, Arroyo, H A, Rating, D, Vanderver, A, van Berkel, C G M, Abbink, G E M, Heutink, P & van der Knaap, M S 2013, ' NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern ', Neurology, vol. 80, no. 17, pp. 1577-1583 . https://doi.org/10.1212/WNL.0b013e31828f1914Test
Neurology, 80, 1577-83
Neurology, 80(17), 1577-1583. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 80(17), 1577-1583. American Academy of Neurology

مصطلحات موضوعية: INVOLVEMENT, Pathology, medicine.medical_specialty, DISORDERS, DNA Mutational Analysis, LEUKOENCEPHALOPATHY, Biology, Corpus callosum, medicine.disease_cause, DIAGNOSIS, BRAIN-STEM, Article, DISEASE, White matter, Mitochondrial Proteins, Genomic disorders and inherited multi-system disorders [IGMD 3], Mutant protein, Leukoencephalopathies, medicine, Humans, Gene, Exome sequencing, Genetics, Mutation, Electron Transport Complex I, medicine.diagnostic_test, MEMBRANE-PROTEIN, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Magnetic resonance imaging, Magnetic Resonance Imaging, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], Cerebellar cortex, Neurology (clinical), WHITE-MATTER

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::618906801e837b2f28574d6f16d7f930Test
https://doi.org/10.1212/wnl.0b013e31828f1914Test

3

Novel Infantile-Onset Leukoencephalopathy With High Lactate Level and Slow Improvement

المؤلفون: Frederik Barkhof, Petra J. W. Pouwels, Marjo S. van der Knaap, Lawrence Richer, Barbara Goeggel Simonetti, Luc Régal, Berten Ceulemans, Richard J. Rodenburg, Marjan E. Steenweg, Adeline Vanderver, Aviva Fattal-Valevski, Prab Prabhakar

المساهمون: Neurology, Radiology and nuclear medicine, Physics and medical technology, Pediatric surgery, NCA - Childhood White Matter Diseases, Other departments, Neuroscience Campus Amsterdam - Childhood White Matter Diseases

المصدر: Archives of neurology
Archives of Neurology, 69(6), 718-722. American Medical Association
Scopus-Elsevier
Archives of Neurology, 69, 718-22
Archives of neurology, 69(6), 718-722. American Medical Association
Steenweg, M E, Vanderver, A, Ceulemans, B, Prabhakar, P, Regal, L, Fattal-Valevski, A, Richer, L, Simonetti, B G, Barkhof, F, Rodenburg, R J T, Pouwels, P J W & van der Knaap, M S 2012, ' Novel Infantile-Onset Leukoencephalopathy With High Lactate Level and Slow Improvement ', Archives of Neurology, vol. 69, no. 6, pp. 718-722 . https://doi.org/10.1001/archneurol.2011.1048Test
Archives of Neurology, 69, 6, pp. 718-22

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Corpus callosum, Article, Choline, Genomic disorders and inherited multi-system disorders [IGMD 3], White matter, Leukoencephalopathy, Arts and Humanities (miscellaneous), Leukoencephalopathies, Basal ganglia, medicine, Humans, Spasticity, Lactic Acid, Longitudinal Studies, Age of Onset, Child, Aspartic Acid, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Mitochondrial medicine [IGMD 8], medicine.anatomical_structure, El Niño, Child, Preschool, Regression Analysis, Female, Neurology (clinical), Radiology, Human medicine, medicine.symptom, Age of onset, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::636d7e3835d390a7e414586f6ad5608dTest
https://hdl.handle.net/1871.1/aaff1058-3d17-4a7f-b9a4-1790fbfc3acfTest

4

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect

المؤلفون: P. Pilz, Martina Herzer, Jan C. Koch, C. Rauscher, Boris Rolinski, Richard J. Rodenburg, Wolfgang Sperl, Johannes A. Mayr, Peter Freisinger, W. Radauer, R. Forstner, Holger Prokisch

المصدر: Neuropediatrics, 41, 1, pp. 30-4
Neuropediatrics, 41, 30-4

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d3efede371dd7ec639e29507cc43ddTest
https://doi.org/10.1055/s-0030-1255062Test

5

DHA and cholesterol containing diets influence Alzheimer-like pathology, cognition and cerebral vasculature in APPswe/PS1dE9 mice

المؤلفون: Arend Heerschap, Y.D. Reijmer, Laus M. Broersen, Katrien M. Brouwer, T. van Groen, Pieter J. Dederen, C.E.E.M. van der Zee, Amanda J. Kiliaan, Carlijn R. Hooijmans, Dieter Lütjohann

المصدر: Neurobiology of Disease, Vol 33, Iss 3, Pp 482-498 (2009)
Neurobiology of Disease, 33, 482-98
Neurobiology of Disease, 33, 3, pp. 482-98

مصطلحات موضوعية: Male, Aging, Pathology, Blood volume, Aetiology, screening and detection [ONCOL 5], Neuroinformatics [DCN 3], Alzheimer's Disease, Cholesterol, Dietary, Mice, chemistry.chemical_compound, Cerebral circulation, Cognition, 0302 clinical medicine, Medicine, 2. Zero hunger, 0303 health sciences, Blood Volume, Behavior, Animal, Fatty Acids, Brain, Pathophysiology, 3. Good health, Mitochondrial medicine [IGMD 8], Cholesterol, Neurology, APPswe/PS1dE9 transgenic mice, Functional Neurogenomics [DCN 2], MRI, medicine.medical_specialty, Docosahexaenoic Acids, Energy and redox metabolism [NCMLS 4], Transgene, Mice, Transgenic, lcsh:RC321-571, 03 medical and health sciences, Atrophy, Alzheimer Disease, Memory, Translational research [ONCOL 3], mental disorders, Animals, Amyloid-β, Maze Learning, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, Brain Chemistry, Amyloid beta-Peptides, business.industry, Cerebral blood volume, Metabolism, Tissue engineering and pathology [NCMLS 3], medicine.disease, Diet, nervous system diseases, Disease Models, Animal, chemistry, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46d628ec32c4a57d476bca3789a1c469Test
https://hdl.handle.net/2066/79884Test

6

Conditional Deletion of theItgb4Integrin Gene in Schwann Cells Leads to Delayed Peripheral Nerve Regeneration

المؤلفون: A. Sonnenberg, C.E.E.M. van der Zee, Arthur J. Kuipers, G. Beckers, M. Kreft

المصدر: The Journal of Neuroscience, 28, 44, pp. 11292-303
The Journal of Neuroscience, 28, 11292-303

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c9e305f0d3d482743dfbe7175b4000eTest
https://doi.org/10.1523/jneurosci.3068-08.2008Test

7

MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency andNDUFV1Mutations and Mild Clinical Course

المؤلفون: Petra J. W. Pouwels, F. Athanasiadou-Piperopoulou, Richard J. Rodenburg, Hans Scheffer, A. Ververi, M.S. van der Knaap, Dimitrios I. Zafeiriou, L.P.W.J. van den Heuvel

المساهمون: Physics and medical technology, Pediatric surgery, Neuroscience Campus Amsterdam 2008, Other departments

المصدر: Neuropediatrics, 39(3), 172-175. Hippokrates Verlag GmbH
Neuropediatrics, 39, 3, pp. 172-5
Zafeiriou, D I, Rodenburg, R J T, Scheffer, H, van den Heuvel, L P, Pouwels, P J W, Ververi, A & van der Knaap, M S 2008, ' MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course ', Neuropediatrics, vol. 39, no. 3, pp. 172-175 . https://doi.org/10.1055/s-0028-1093336Test
Neuropediatrics, 39, 172-5

مصطلحات موضوعية: In vivo magnetic resonance spectroscopy, Heterozygote, Pathology, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Mitochondrial Diseases, Energy and redox metabolism [NCMLS 4], NDUFV1, Corpus callosum, Compound heterozygosity, Genomic disorders and inherited multi-system disorders [IGMD 3], Leukoencephalopathy, White matter, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], Spastic diplegia, medicine, Humans, Child, Electron Transport Complex I, medicine.diagnostic_test, Brain Diseases, Metabolic, business.industry, NADH Dehydrogenase, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Mitochondrial medicine [IGMD 8], medicine.anatomical_structure, Genetic defects of metabolism [UMCN 5.1], Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Cellular energy metabolism [UMCN 5.3], business, Functional Neurogenomics [DCN 2]