المؤلفون: Christian Lavigne, Christoph Kessler, Matthias R. Baumgartner, Patricie Burda, François Feillet, Martina Huemer, Viktor Kožich, Mirian C. H. Janssen, Fanny Mochel, Rebecca Schüle, Pavel Ješina, Karolina M. Stepien, Adeline Regnier, Isabelle Redonnet-Vernhet, Jean-François Benoist, Cecilia Marelli

المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, 44 (3), pp.777-786. ⟨10.1002/jimd.12323⟩
Journal of Inherited Metabolic Disease, 44, 777-786
Journal of Inherited Metabolic Disease 44(3), 777-786 (2021). doi:10.1002/jimd.12323
Journal of Inherited Metabolic Disease, 44, 3, pp. 777-786

مصطلحات موضوعية: Male, Delayed Diagnosis, Methylenetetrahydrofolate reductase deficiency, diagnosis [Muscle Spasticity], Gastroenterology, pathology [Epilepsy], Epilepsy, 0302 clinical medicine, late-onset, Medicine, Age of Onset, Cognitive decline, Child, Genetics (clinical), 0303 health sciences, biology, MTHFR deficiency, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, 3. Good health, Neurology, Muscle Spasticity, diagnosis [Psychotic Disorders], Homocystinuria, Female, medicine.symptom, pathology [Homocystinuria], Polyneuropathy, pathology [Muscle Spasticity], Adult, diagnosis [Seizures], medicine.medical_specialty, Adolescent, Late onset, Late-onset, Asymptomatic, pathology [Intellectual Disability], Young Adult, 03 medical and health sciences, Seizures, Intellectual Disability, Internal medicine, Genetics, Humans, pathology [Psychotic Disorders], deficiency [Methylenetetrahydrofolate Reductase (NADPH2)], Inherited metabolic disease, inherited metabolic disease, Methylenetetrahydrofolate Reductase (NADPH2), Retrospective Studies, 030304 developmental biology, pathology [Seizures], business.industry, neurology, diagnosis [Homocystinuria], medicine.disease, diagnosis [Epilepsy], Psychotic Disorders, diagnosis [Intellectual Disability], Methylenetetrahydrofolate reductase, biology.protein, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d46842247db613f3948216a26335491Test
https://doi.org/10.1002/jimd.12323Test

المؤلفون: Ludger Schöls, Stephan Gierer, Stephan Züchner, Claudia Schulte, Matthis Synofzik, Rebecca Schüle, Dietmar Rudolf Thal

المصدر: International Journal of Molecular Sciences
International journal of molecular sciences 16(10), 25050-25066 (2015). doi:10.3390/ijms161025050
Volume 16
Issue 10
Pages 25050-25066
International Journal of Molecular Sciences, Vol 16, Iss 10, Pp 25050-25066 (2015)

مصطلحات موضوعية: Male, pathology [Spinocerebellar Ataxias], Cerebellum, Pathology, pathology [Spastic Paraplegia, Hereditary], pathology [Optic Atrophy], genetics [Muscle Spasticity], lcsh:Chemistry, genetics [Optic Atrophy], genetics [Metalloendopeptidases], Gene Frequency, Inferior olivary nucleus, pathology [Neurons], genetics [Spinocerebellar Ataxias], metabolism [alpha-Synuclein], tau, Gliosis, lcsh:QH301-705.5, Spectroscopy, Neurons, paraplegin, education.field_of_study, Paraplegin, pathology [Olivary Nucleus], Metalloendopeptidases, metabolism [Neurites], Neurofibrillary Tangles, General Medicine, Computer Science Applications, Substantia Nigra, medicine.anatomical_structure, Cerebellar Nuclei, Muscle Spasticity, Cerebral cortex, Basal Nucleus of Meynert, ddc:540, alpha-Synuclein, Spinocerebellar ataxia, genetics [Gliosis], pathology [Muscle Spasticity], medicine.medical_specialty, spastic paraplegia, Hereditary spastic paraplegia, Population, SPG7 protein, human, tau Proteins, Olivary Nucleus, Biology, pathology [Basal Nucleus of Meynert], pathology [Intellectual Disability], Article, SPG7, Catalysis, Inorganic Chemistry, pathology [Cerebellar Nuclei], genetics [Spastic Paraplegia, Hereditary], Intellectual Disability, Neurites, medicine, biosynthesis [Metalloendopeptidases], Humans, Spinocerebellar Ataxias, SNCA protein, human, Physical and Theoretical Chemistry, education, Molecular Biology, pathology [Substantia Nigra], Aged, pathology [Lewy Bodies], Spastic Paraplegia, Hereditary, ataxia, Organic Chemistry, medicine.disease, metabolism [tau Proteins], spastic ataxia, Optic Atrophy, Dentate nucleus, lcsh:Biology (General), lcsh:QD1-999, nervous system, neurofibrillary tangles, coiled bodies, genetics [Gene Frequency], ATPases Associated with Diverse Cellular Activities, Lewy Bodies, pathology [Neurofibrillary Tangles], genetics [Intellectual Disability], Lewy bodies

وصف الملف: application/pdf; Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1c63a3dea9936bfc9d799e2512a728Test
https://doi.org/10.3390/ijms161025050Test

المؤلفون: Andreas W. Kuss, Ildiko Racz, Lore Becker, Thomas Klopstock, Lillian Garrett, Lars R. Jensen, Markus Ralser, Jozef Gecz, Martin Hrabě de Angelis, Matthias Rath, Hans-Hilger Ropers, Martin Klingenspor, Eckhard Wolf, Juan Antonio Aguilar-Pimentel, Thure Adler, Wolfgang Wurst, Anke Van Dijck, Sabine Müller, Jan Rozman, Viola von Bohlen und Halbach, Andreas Zimmer, Kristin Moreth, Harry Scherthan, Katharina Blümlein, Martin B. Delatycki, Birgit Rathkolb, Diego J. Walther, Jochen Graw, R. Frank Kooy, Jerzy Adamski, Valerie Gailus-Durner, Oliver Puk, Helmut Fuchs, Sabine M. Hölter, Bettina Bert, Oliver von Bohlen und Halbach, Cornelia Prehn, Wolfgang Hans, Zornitza Stark, Monika Dopatka, Dirk H. Busch, Heidrun Fink

المصدر: Biochim Biophys Acta Mol Basis Dis
Biochimica et biophysica acta : molecular basis of disease
Biochimica et biophysica acta / Molecular basis of disease 1865(9), 2083-2093 (2019). doi:10.1016/j.bbadis.2018.12.011

مصطلحات موضوعية: Male, Methyltransferase, medicine.disease_cause, Nociceptive Pain, Mice, 0302 clinical medicine, Ecology,Evolution & Ethology, Intellectual disability, Gene expression, Genetics, Mice, Knockout, Chemical Biology & High Throughput, 0303 health sciences, Mutation, tRNA Methyltransferases, Behavior, Animal, Physics, Nuclear Proteins, genetics [Mental Retardation, X-Linked], genetics [Nuclear Proteins], genetics [tRNA Methyltransferases], ddc, Chemistry, Molecular Medicine, Female, Synthetic Biology, etiology [Intellectual Disability], metabolism [Nuclear Proteins], pathology [Nociceptive Pain], Biology, pathology [Intellectual Disability], 03 medical and health sciences, physiology [Methyltransferases], Immune system, Intellectual Disability, medicine, Animals, metabolism [tRNA Methyltransferases], Family, ddc:610, metabolism [Methyltransferases], Molecular Biology, Gene, physiology [tRNA Methyltransferases], 030304 developmental biology, Computational & Systems Biology, TRNA Methyltransferase, etiology [Cognition Disorders], Methyltransferases, medicine.disease, TRNA Methyltransferases, Mice, Inbred C57BL, Disease Models, Animal, Metabolism, etiology [Nociceptive Pain], genetics [Methyltransferases], Mental Retardation, X-Linked, pathology [Cognition Disorders], Human medicine, Cognition Disorders, 030217 neurology & neurosurgery

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7c5352c82f2abde8ba3f3cd43a40d0Test
https://hdl.handle.net/21.11116/0000-0003-587A-221.11116/0000-0003-587C-0Test

المؤلفون: Chi un Choe, Kusum K. Kharbanda, Malte Stockebrand, Stefan Schillemeit, Axel Neu, Ali Sasani Nejad, Kathrin Sauter, Dirk Isbrandt

المصدر: Amino acids 48(8), 2025-2039 (2016). doi:10.1007/s00726-016-2202-7

مصطلحات موضوعية: 0301 basic medicine, metabolism [Amidinotransferases], Amidinotransferases, metabolism [Muscle, Skeletal], Phosphocreatine, Developmental Disabilities, Clinical Biochemistry, chemically induced [Obesity], Biochemistry, Oxidative Phosphorylation, pathology [Muscle, Skeletal], chemistry.chemical_compound, Mice, 0302 clinical medicine, genetics [Obesity], pathology [Speech Disorders], genetics [Phosphocreatine], Alanine, chemistry.chemical_classification, Mice, Knockout, pathology [Adipose Tissue, White], metabolism [Phosphocreatine], metabolism [Intellectual Disability], genetics [Developmental Disabilities], ddc:540, genetics [Amidinotransferases], Metabolome, pathology [Amino Acid Metabolism, Inborn Errors], Pyruvate dehydrogenase kinase, pathology [Obesity], Adipose Tissue, White, Biology, Carbohydrate metabolism, Creatine, Speech Disorders, pathology [Intellectual Disability], 03 medical and health sciences, genetics [Speech Disorders], genetics [Amino Acid Metabolism, Inborn Errors], Intellectual Disability, metabolism [Obesity], glycine amidinotransferase, Animals, Obesity, Protein kinase A, Muscle, Skeletal, Amino Acid Metabolism, Inborn Errors, metabolism [Developmental Disabilities], metabolism [Adipose Tissue, White], deficiency [Amidinotransferases], Organic Chemistry, Metabolism, metabolism [Amino Acid Metabolism, Inborn Errors], metabolism [Speech Disorders], pathology [Developmental Disabilities], 030104 developmental biology, Enzyme, chemistry, genetics [Intellectual Disability], Transcriptome, 030217 neurology & neurosurgery, Arginine-Glycine Amidinotransferase Deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cb7a89d02afdb7988e244e7af213b8fTest

المؤلفون: Hauser, Stefan, Schuster, Stefanie, Theurer, Yvonne, Synofzik, Matthis, Schöls, Ludger

المصدر: Stem cell research 17(2), 426-429 (2016). doi:10.1016/j.scr.2016.09.012
Stem Cell Research, Vol 17, Iss 2, Pp 426-429 (2016)

مصطلحات موضوعية: genetics [Spasm], Spasm, genetics [Hearing Loss], pathology [Optic Atrophy], DNA Mutational Analysis, pathology [Hearing Loss], OPA1 protein, human, pathology [Ataxia], GTP Phosphohydrolases, genetics [Optic Atrophy], metabolism [Hearing Loss], cytology [Fibroblasts], metabolism [Transcription Factors], lcsh:QH301-705.5, Medicine(all), Cell Differentiation, cytology [Induced Pluripotent Stem Cells], genetics [Ataxia], Middle Aged, genetics [Transcription Factors], Cellular Reprogramming, Immunohistochemistry, metabolism [Intellectual Disability], metabolism [Induced Pluripotent Stem Cells], Female, metabolism [Ataxia], metabolism [Fibroblasts], genetics [GTP Phosphohydrolases], Heterozygote, Genotype, Induced Pluripotent Stem Cells, metabolism [Spasm], Polymorphism, Single Nucleotide, pathology [Intellectual Disability], Cell Line, Intellectual Disability, ddc:570, Humans, Hearing Loss, pathology [Spasm], Base Sequence, Cell Biology, Fibroblasts, eye diseases, Optic Atrophy, lcsh:Biology (General), metabolism [Optic Atrophy], Ataxia, genetics [Intellectual Disability], congenital [Optic Atrophy], Developmental Biology, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::268ee42e0c12b0f276df3a49d6a68e95Test
https://pub.dzne.de/record/138916Test

المؤلفون: Mark Stephens, Malcolm Proudfoot, Dieter Edbauer, Julia Rankin, Nick Gutowski, Ian R. A. Mackenzie, David A Hilton

المصدر: Acta neuropathologica 127(3), 451-458 (2014). doi:10.1007/s00401-014-1245-7

مصطلحات موضوعية: Male, Pathology, Disease, Fatal Outcome, pathology [Brain], complications [Frontotemporal Dementia], C9orf72, Intellectual disability, genetics [Frontotemporal Dementia], Index case, DNA Repeat Expansion, Brain, Middle Aged, Immunohistochemistry, Pedigree, genetics [European Continental Ancestry Group], Frontotemporal Dementia, Mutation (genetic algorithm), Disease Progression, Female, Frontotemporal dementia, Adult, medicine.medical_specialty, Mothers, pathology [Intellectual Disability], White People, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Intellectual Disability, mental disorders, medicine, Dementia, Humans, Family, ddc:610, Pathological, C9orf72 Protein, business.industry, nutritional and metabolic diseases, Proteins, medicine.disease, genetics [Proteins], nervous system diseases, metabolism [Brain], pathology [Frontotemporal Dementia], Neurology (clinical), genetics [Intellectual Disability], C9orf72 protein, human, complications [Intellectual Disability], business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e9c3bd78efe7bc72f0a2c6d0c0f7ea5Test
https://pubmed.ncbi.nlm.nih.gov/24445903Test

المؤلفون: Yusuke Maeda, Safia Muhammad, Yoshiko Murakami, Michael Aigner, Lars Hansen, Shahid Mahmood Baig, André Reis, Rebecca Buchert, Niels Tommerup, Hasan Tawamie, Yuan Mang, Taroh Kinoshita, Stefanie Schaffer, Eric P. Bennett, Rami Abou Jamra, Markus M. Nöthen, Mads Bak, Shoaib Ur Rehman

المصدر: The American journal of human genetics 92(4), 575-583 (2013). doi:10.1016/j.ajhg.2013.03.008

مصطلحات موضوعية: blood [Alkaline Phosphatase], Male, Glycosylphosphatidylinositols, pathology [Lymphocytes], Golgi Apparatus, Endoplasmic Reticulum, medicine.disease_cause, metabolism [Endoplasmic Reticulum], Cricetinae, Genetics(clinical), Lymphocytes, Nuclear protein, Child, Genetics (clinical), Genetics, Mutation, Chinese hamster ovary cell, Nuclear Proteins, genetics [Nuclear Proteins], Phenotype, Pedigree, Child, Preschool, metabolism [Lymphocytes], symbols, Female, FRAG1 protein, human, Molecular Sequence Data, Genes, Recessive, genetics [Mutation], CHO Cells, Biology, Article, metabolism [Golgi Apparatus], pathology [Intellectual Disability], symbols.namesake, Germline mutation, Cricetulus, Intellectual Disability, ddc:570, medicine, Animals, Humans, genetics [Glycosylphosphatidylinositols], Amino Acid Sequence, Gene, Sequence Homology, Amino Acid, Endoplasmic reticulum, Biological Transport, Golgi apparatus, Alkaline Phosphatase, genetics [Intellectual Disability]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::407631f430c2c501775004f2f83fc301Test