نتائج البحث - "Renal disorder [DCN MP - Plasticity and memory IGMD 9]"

1

Congenital myopathy caused by a novel missense mutation in the CFL2 gene

المؤلفون: A. Dara Hama-Amin, N. van Alfen, Martin Lammens, Charlotte W. Ockeloen, H.J. Gilhuis, Nine V A M Knoers, Rolph Pfundt, Adinda Diekstra, Alan H. Beggs, Erik-Jan Kamsteeg, Pankaj B. Agrawal

المصدر: Neuromuscular disorders, 22(7), 632-639. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular Disorders, 22, 7, pp. 632-9
Neuromuscular Disorders, 22, 632-9

مصطلحات موضوعية: Pathology, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Muscle Proteins, medicine.disease_cause, Muscular Dystrophies, Exon, Nemaline myopathy, Missense mutation, Longitudinal Studies, Child, Genetics (clinical), Muscle Proteins/metabolism, Adenosine Triphosphatases, Genetics, Mutation, Microscopy, Muscular Dystrophies/congenital, Disease gene identification, Neurology, Mutation, Missense/genetics, Skeletal/enzymology, Muscle, Female, SNP array, Cofilin 2, medicine.medical_specialty, DCN MP - Plasticity and memory, Cofilin 2/genetics, Mutation, Missense, Missense/genetics, Biology, Electron, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Microscopy, Electron, Transmission, Muscle, Skeletal/enzymology, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Transmission, Muscle, Skeletal, Actin, Family Health, Adenosine Triphosphatases/metabolism, medicine.disease, Congenital myopathy, Pediatrics, Perinatology and Child Health, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7570c7d977be11326d7fef5423fa8eabTest
https://research.rug.nl/en/publications/094e66bc-af54-4743-b9fb-df124d4c32c4Test

2

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

المؤلفون: Nicol C. Voermans, Martin Lammens, N. van Alfen, B.G.M. van Engelen, Marlies Kempers, Mirian C. H. Janssen, Carsten G. Bönnemann, Ben C.J. Hamel

المصدر: American Journal of Medical Genetics. Part A, 158A, 850-5
American Journal of Medical Genetics. Part A, 158A, 4, pp. 850-5

مصطلحات موضوعية: Pathology, medicine.medical_specialty, DCN MP - Plasticity and memory, Connective tissue, Electromyography, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Young Adult, Female patient, Genetics, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Myopathy, Health aging / healthy living Cardiovascular diseases [IGMD 5], Genetics (clinical), Sequence Deletion, Mutation, Muscle Weakness, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscle weakness, medicine.disease, Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], medicine.anatomical_structure, Ehlers–Danlos syndrome, Ehlers-Danlos Syndrome, Female, Sulfotransferases, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e4d491611e7d0c90002e7895cbb4f3Test
https://doi.org/10.1002/ajmg.a.35232Test

3

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

المؤلفون: Martin Lammens, Robert W. Taylor, H. Barth, Ron A. Wevers, Saskia B. Wortmann, B. Trutnau, Richard J. Rodenburg, Kate Craig, Michael Champion, Eva Morava, Lambert P. van den Heuvel, Jan A.M. Smeitink, Michiel F. Schreuder

المساهمون: Pediatric surgery, ICaR - Circulation and metabolism

المصدر: Wortmann, S B, Champion, M P, van den Heuvel, L, Barth, H, Trutnau, B, Craig, K, Lammens, M, Schreuder, M F, Taylor, R W, Smeitink, J A M, Wevers, R A, Rodenburg, R J & Morava, E 2012, ' Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? ', European Journal of Medical Genetics, vol. 55, no. 10, pp. 552-556 . https://doi.org/10.1016/j.ejmg.2012.06.002Test
European Journal of Medical Genetics, 55, 10, pp. 552-6
European Journal of Medical Genetics, 55, 552-6
European Journal of Medical Genetics, 55(10), 552-556. Elsevier Masson SAS

مصطلحات موضوعية: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, RNA, Transfer, Leu, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Encephalopathy, MELAS syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Gastroenterology, DNA, Mitochondrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Kearns–Sayre syndrome, Renal tubular acidosis, Mitochondrial myopathy, Renal tubular dysfunction, Internal medicine, Genetics, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Creatine Kinase, Genetics (clinical), Renal disorder [IGMD 9], business.industry, Hypertrophic cardiomyopathy, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, General Medicine, Acidosis, Renal Tubular, Syndrome, Glycostation disorders [IGMD 4], Cardiomyopathy, Hypertrophic, medicine.disease, Pedigree, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mitochondrial medicine [IGMD 8], Endocrinology, Genes, Mitochondrial, Lactic acidosis, Mutation, Muscle Hypotonia, Acidosis, Lactic, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9f553e87ca4aa8cbe20ede63dc2774Test
https://hdl.handle.net/1871/42986Test

4

Neuropathology in classical and variant ataxia-telangiectasia

المؤلفون: Verhagen, M.M.M., Martin, J.J., Deuren, M. van, Ceuterick-de Groote, C., Weemaes, C.M.R., Kremer, B., Taylor, M.A., Willemsen, M.A.A.P., Lammens, M.M.Y.

المصدر: Neuropathology, 32, 3, pp. 234-44
Neuropathology, 32, 234-44

مصطلحات موضوعية: Pathogenesis and modulation of inflammation [N4i 1], DCN MP - Plasticity and memory, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Auto-immunity, transplantation and immunotherapy [N4i 4]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f8382a380007e90a4808c86f30e3fd67Test
https://doi.org/10.1111/j.1440-1789.2011.01263.xTest

5

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

المساهمون: Neurology

المصدر: Neuromuscular Disorders, 23, 540-8
Neuromuscular Disorders, 23, 7, pp. 540-8
Neuromuscular Disorders, 23(7), 540-548. Elsevier Ltd.

مصطلحات موضوعية: Male, myalgia, Heterozygote, medicine.medical_specialty, Weakness, Pathology, Neuromuscular disease, DCN MP - Plasticity and memory, Rhabdomyolysis, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, medicine, Humans, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Exercise, Genetics (clinical), RYR1, calmodulina recettore d ella rianodina, Exercise-induced rhabdomyolysis, business.industry, Malignant hyperthermia, Ryanodine Receptor Calcium Release Channel, medicine.disease, Phenotype, Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Neurology, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Malignant Hyperthermia, business, Central core disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b3146925dbd644076fa5b782e3b4522Test
http://hdl.handle.net/2066/118833Test

6

Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation

المؤلفون: Prabowo, Avanita S., Anink, Jasper J., Lammens, Martin, Nellist, Mark, van den Ouweland, Ans M. W., Adle-Biassette, Homa, Sarnat, Harvey B., Flores-Sarnat, Laura, Crino, Peter B., Aronica, Eleonora

المساهمون: Clinical Genetics, Pathology, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Neurology

المصدر: Brain Pathology, 23(1), 45-59. Wiley-Blackwell
Brain Pathology; Vol 23
Brain pathology (Zurich, Switzerland), 23(1), 45-59. Wiley-Blackwell
Brain Pathology, 23, 45-59
Brain Pathology, 23, 1, pp. 45-59
Brain Pathology

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis, Receptor for Advanced Glycation End Products, Gestational Age, Nerve Tissue Proteins, Mechanistic Target of Rapamycin Complex 1, Article, Tuberous Sclerosis Complex 1 Protein, Fetus, Antigens, CD, Pregnancy, Tuberous Sclerosis, Prenatal Diagnosis, Tuberous Sclerosis Complex 2 Protein, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Receptors, Immunologic, TOR Serine-Threonine Kinases, Tumor Suppressor Proteins, Toll-Like Receptors, Brain, Magnetic Resonance Imaging, nervous system diseases, Gene Expression Regulation, Neoplastic, Multiprotein Complexes, embryonic structures, Mutation, Encephalitis, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1249bd400fd830fffd972267b235ba2fTest
https://pure.eur.nl/en/publications/0ed62f7b-8e24-431f-9ed6-9437741c96e5Test

7

Mutations in TPM2 and congenital fibre type disproportion

المؤلفون: Andrew J. Kornberg, Nigel F. Clarke, Bregje W.M. van Bon, Damian Clark, Martin Lammens, Leigh B. Waddell, L.T.L. Sie, Catriona McLean, Kathryn N. North

المصدر: Neuromuscular Disorders, 22, 11, pp. 955-8
Neuromuscular Disorders, 22, 955-8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72338aa6f52fdfc1d2ee7dc2b4f07581Test
https://hdl.handle.net/2066/108778Test

8

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Nature Genetics, 44, 7, pp. 797-802
Nature genetics, 44(7), 797-U231. Nature Publishing Group
Nature Genetics, 44, 797-802
Nature Genetics; Vol 44

مصطلحات موضوعية: Mitochondrion, Deafness, medicine.disease_cause, Oxidative Phosphorylation, chemistry.chemical_compound, 0302 clinical medicine, Cardiolipin, Exome, Phospholipids, Cell Line, Transformed, 0303 health sciences, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Phosphatidylglycerols, 3-Methylglutaconic Aciduria, Mitochondria, Complementation, Dystonia, Cholesterol, Mitochondrial medicine [IGMD 8], lipids (amino acids, peptides, and proteins), Intracellular, medicine.medical_specialty, Cardiolipins, Molecular Sequence Data, Biology, Filipin, 03 medical and health sciences, exome sequencing, SERAC1 gene, mitochondrial function, dystonia, deafness, Internal medicine, Cell Line, Tumor, Genetics, medicine, Humans, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Amino Acid Sequence, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Endoplasmic reticulum, Fibroblasts, Glycostation disorders [IGMD 4], Molecular biology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Mitochondrial medicine Membrane transport and intracellular motility [IGMD 8], Endocrinology, HEK293 Cells, chemistry, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Carboxylic Ester Hydrolases, Sequence Alignment, 030217 neurology & neurosurgery, HeLa Cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c5393494ef9521017b2a416feb03f23Test
https://doi.org/10.1038/ng.2325Test

9

Processing of nerve biopsies: a practical guide for neuropathologists

المؤلفون: Jean-Michel Vallat, Joachim Weis, Martin Lammens, Claudia Sommer, Sebastian Brandner

المصدر: Clinical Neuropathology, 31, 1, pp. 7-23
Clinical Neuropathology
Europe PubMed Central
Clinical Neuropathology, 31, 7-23

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd1d6e119af04d89ec3e3e1c056db195Test
https://doi.org/10.5414/NP300468Test

10

Late-onset post-irradiation vasculopathy of the posterior cerebral vasculature

المؤلفون: Tom Boterberg, Martin Lammens, Luc Defreyne, Eric Achten, Caroline Van den Broecke, Anne Sieben, Jelle van den Ameele, Dimitri Hemelsoet

المصدر: Acta Neurologica Belgica, 112, 1, pp. 101-4
Acta Neurologica Belgica, 112, 101-4

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d5f416de112d3b05b3c5d94f21169dbTest
https://hdl.handle.net/2066/108490Test

تنقيح النتائج