المؤلفون: Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)

مصطلحات موضوعية: RNA-seq, Genetic diagnostics, Mendelian diseases, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/c84ca93f6ba94f7fa60fa360f03b6d83

المؤلفون: Karen Rosier, Molly T. McDevitt, Joél Smet, Brendan J. Floyd, Maxime Verschoore, Maria J. Marcaida, Craig A. Bingman, Irma Lemmens, Matteo Dal Peraro, Jan Tavernier, Benjamin F. Cravatt, Natalia V. Gounko, Katlijn Vints, Yenthe Monnens, Kritika Bhalla, Laetitia Aerts, Edrees H. Rashan, Arnaud V. Vanlander, Rudy Van Coster, Luc Régal, David J. Pagliarini, John W.M. Creemers

المصدر: iScience, Vol 24, Iss 12, Pp 103460- (2021)

مصطلحات موضوعية: Molecular biology, Molecular medicine, Structural biology, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004221014310; https://doaj.org/toc/2589-0042

URL الوصول: https://doaj.org/article/a2916c2ecc194c18bb66fc5774a5e60f

المؤلفون: Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Complex I, Cardiomyopathy, Heart transplantation, Mitochondrial disorder, Lactic acidosis, Treatment, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0784-8; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/129e2104cafd486f9cf68aead98de16c

المؤلفون: Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Mitochondrial tryptophanyl-tRNA synthetase, WARS2, Mitochondria, Mitochondrial aminoacyl-tRNA synthetase, Valproate, Hepatotoxicity, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0822-6; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c03422226e3b403eb6c94ac47af03afc

المؤلفون: Sara Capiau, Joél Smet, Boel De Paepe, Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore, Hedwig Stepman, Sara Seneca, Arnaud Vanlander

المصدر: Cells, Vol 11, Iss 3, p 489 (2022)

مصطلحات موضوعية: ATP-synthase, complex V deficiency, MT-ATP6, NC_012920.1(MT-ATP6):m.9035T>C, p.L170P, genotype-phenotype correlation, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/11/3/489; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/1f837d116821465b805ab9b219fbb9b7

المؤلفون: Björn De Samber, Eline Meul, Brecht Laforce, Boel De Paepe, Joél Smet, Michiel De Bruyne, Riet De Rycke, Sylvain Bohic, Peter Cloetens, Rudy Van Coster, Peter Vandenabeele, Tom Vanden Berghe

المصدر: PLoS ONE, Vol 13, Iss 1, p e0190495 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5771581?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/6c0bbd06f4e74410b7876518091746eb

المؤلفون: Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers, Etienne Sokal, François-Guillaume Debray

المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 223-231 (2014)

مصطلحات موضوعية: Mitochondrial disease, mtDNA depletion, Gaucher disease, Neurohepatic, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426914000342; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/fd556b0c77d94429ba45fcb9552d5c29

المؤلفون: Kim Vancampenhout, Ben Caljon, Claudia Spits, Katrien Stouffs, An Jonckheere, Linda De Meirleir, Willy Lissens, Arnaud Vanlander, Joél Smet, Boel De Paepe, Rudy Van Coster, Sara Seneca

المصدر: PLoS ONE, Vol 9, Iss 11, p e112950 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4226615?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/084d91aa6c5742289cd80d0e88be09ce

المؤلفون: Reijo Laaksonen, Mikko Katajamaa, Hannu Päivä, Marko Sysi-Aho, Lilli Saarinen, Päivi Junni, Dieter Lütjohann, Joél Smet, Rudy Van Coster, Tuulikki Seppänen-Laakso, Terho Lehtimäki, Juhani Soini, Matej Oresic

المصدر: PLoS ONE, Vol 1, p e97 (2006)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC1762369?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/73089aa923d2441d8757dd8ed15e155e

المؤلفون: Boel De Paepe, Joél Smet, Robert Kopajtich, Holger Prokisch, Rudy Van Coster, Arnaud Vanlander

المصدر: Pediatr. Res., DOI: 10.1038/s41390-022-02169-7 (2022)
PEDIATRIC RESEARCH

مصطلحات موضوعية: MUTATIONS, Pediatrics, Perinatology and Child Health, Medicine and Health Sciences, PERRAULT SYNDROME, TRANSFER-RNA SYNTHETASE, Perinatology and Child Health, Pediatrics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b09699ab1147118ea27fc62def31c197
https://doi.org/10.1038/s41390-022-02169-7

المؤلفون: Jo Vandesompele, Justine Nuytens, Aart G. Jochemsen, Didier Decaudin, Fariba Nemati, Jilke De Wilde, Manuel Rodrigues, Rudy Van Coster, Eleonora Leucci, Joél Smet, Louis Delhaye, Peihua Zhao, Shanna Dewaele, Pieter Mestdagh, Jasper Anckaert, Sven Eyckerman, Katrien Vanderheyden, Eric James de Bony, Maxime Verschoore, Boel De Paepe, Jo Van Dorpe, Jean-Christophe Marine, Nurten Yigit, Eveline Vanden Eynde

المصدر: Oncogene
ONCOGENE

مصطلحات موضوعية: Uveal Neoplasms, Biochemistry & Molecular Biology, Cancer Research, Cell Survival, Mitochondrial translation, Malignancy, Article, Non-coding RNAs, Mice, Targeted therapies, Cell Line, Tumor, Medicine and Health Sciences, KI-67, Genetics, medicine, Animals, Humans, Gene silencing, Melanoma, Molecular Biology, Genetics & Heredity, Science & Technology, biology, Correction, RNA, Cell Biology, medicine.disease, eye diseases, Long non-coding RNA, Oncology, GLYCYLCYCLINE, Apoptosis, Ki-67, ESTABLISHMENT, TIGECYCLINE, biology.protein, Cancer research, RNA, Long Noncoding, Life Sciences & Biomedicine

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b2581ad7896383dcdd1dbb534b7c760
https://doi.org/10.1038/s41388-021-02006-x

المؤلفون: David J. Pagliarini, Kritika Bhalla, Karen Rosier, Brendan J. Floyd, Rudy Van Coster, John W.M. Creemers, Irma Lemmens, Edrees H. Rashan, Maxime Verschoore, Benjamin F. Cravatt, Matteo Dal Peraro, Katlijn Vints, Luc Régal, Joél Smet, Laetitia Aerts, Arnaud Vanlander, Yenthe Monnens, Natalia V. Gounko, Craig A. Bingman, Jan Tavernier, Molly T. McDevitt, Maria J. Marcaida

المساهمون: Pediatrics

المصدر: iScience
ISCIENCE
iScience, Vol 24, Iss 12, Pp 103460-(2021)

مصطلحات موضوعية: Gene isoform, Mitochondrial DNA, Molecular biology, Science, prepl deficiency, PROTEIN, Oxidative phosphorylation, Mitochondrion, Article, COMPLEX-I, ACYLAMINOACYL PEPTIDASE, Prolyl endopeptidase, acylaminoacyl peptidase, Medicine and Health Sciences, aeropyrum-pernix k1, medicine, CRYSTAL-STRUCTURE, deletion, cystinuria, AEROPYRUM-PERNIX K1, Multidisciplinary, Molecular medicine, Chemistry, DELETION, Biology and Life Sciences, crystal-structure, Serine hydrolase, CYSTINURIA, Cell biology, oligopeptidase, Cytosol, Mitochondrial respiratory chain, PREPL DEFICIENCY, complex-i, bone-mineral density, BONE-MINERAL DENSITY, protein, Structural biology, OLIGOPEPTIDASE, medicine.drug

وصف الملف: application/pdf; Electronic-eCollection

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d632ef57ff0933bdaa806f554927a20
https://hdl.handle.net/20.500.14017/c7bfdaf7-1b1c-4a72-9f07-6f40a36a6606

المؤلفون: Sara, Capiau, Joél, Smet, Boel, De Paepe, Yilmaz, Yildiz, Mutluay, Arslan, Olivier, Stevens, Maxime, Verschoore, Hedwig, Stepman, Sara, Seneca, Arnaud, Vanlander

المصدر: Cells. 11(3)

مصطلحات موضوعية: Mitochondrial Diseases, Phenotype, Adolescent, Genotype, Mutation, Humans, Infant, Ataxia, Mitochondrial Proton-Translocating ATPases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1a8531af8285fd0fb29fb56b481cd9a8
https://pubmed.ncbi.nlm.nih.gov/35159298

المؤلفون: Mirjana Gusic, Elena Procopio, Vicente A. Yépez, Antonia Ribes, Riccardo Berutti, Daniele Ghezzi, Yulia S. Itkis, Rui Ban, Michaela F. Müller, Akira Ohtake, Felix Distelmaier, Tim M. Strom, Thomas Meitinger, Skadi Beblo, Gerard Muñoz-Pujol, Holger Prokisch, Tatiana D. Krylova, Christine Makowski, Yoshihito Kishita, Joél Smet, Arnaud Vanlander, Matias Wagner, Julien Gagneur, Robert Kopajtich, Holger Blessing, Charlotte L. Alston, Thomas Schwarzmayr, Signe Mosegaard, Susan J. Hayflick, Dominic Lenz, Elżbieta Ciara, Manting Xu, Maja Hempel, Kei Murayama, Costanza Lamperti, Rudy Van Coster, Yasushi Okazaki, Johannes Häberle, Caterina Terrile, Sarah L. Stenton, Fang Fang, Peter Freisinger, Robert W. Taylor, Thomas Klopstock, Saskia B. Wortmann, Johannes A. Mayr, Christian Staufner, Agnieszka Nadel, Agnès Rötig, Nicholas H. Smith, Frederic Tort, Christian Mertes, Dorota Piekutowska-Abramczuk

مصطلحات موضوعية: Mitochondrial disease, Computational biology, Biology, medicine.disease, Genome, Transcriptome, symbols.namesake, Gene expression, Mendelian inheritance, symbols, medicine, Haploinsufficiency, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::90c3e4fbedb693debf43ffb8dda37bfa
https://doi.org/10.1101/2021.04.01.21254633

المؤلفون: Joél Smet, Chris Baeken, Boel De Paepe, Jessica Van Oosterwijck, Mira Meeus

المساهمون: Brain, Body and Cognition, Clinical sciences, Neuroprotection & Neuromodulation, Psychiatry, Faculty of Physical Education and Physical Therapy

المصدر: Medical hypotheses

مصطلحات موضوعية: 0301 basic medicine, Sleep Wake Disorders, Fibromyalgia, brain, Central nervous system, Glutamic Acid, Pain, 03 medical and health sciences, 0302 clinical medicine, medicine, Chronic fatigue syndrome, Humans, Irritable bowel syndrome, Cerebral Cortex, business.industry, Glutamate receptor, Chronic pain, General Medicine, medicine.disease, Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, Anxiety, Human medicine, medicine.symptom, business, Neuroscience, Insula, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e858a7a527b10265f4474e7369d4d64
https://pubmed.ncbi.nlm.nih.gov/32721793

المؤلفون: Marisa W. Friederich, Elise Vantroys, Amy Goldstein, Michio Hirano, Johan L.K. Van Hove, Joél Smet, Kaz M. Knight, Rudy Van Coster

المصدر: Molecular Genetics and Metabolism. 123:185-284

مصطلحات موضوعية: 0301 basic medicine, Primary (chemistry), business.industry, Endocrinology, Diabetes and Metabolism, Mitochondrial disease, Functional testing, Diagnostic test, medicine.disease, Bioinformatics, Biochemistry, 03 medical and health sciences, 030104 developmental biology, Endocrinology, Genetics, medicine, business, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9d55b3ab8ae1a51e0c4d25b0344b7054
https://doi.org/10.1016/j.ymgme.2017.12.430

المؤلفون: Justine Nuytens, Boel De Paepe, Nurten Yigit, Eleonora Leucci, Sven Eyckerman, Rudy Van Coster, Jo Vandesompele, Louis Delhaye, Aart G. Jochemsen, Didier Decaudin, Shanna Dewaele, Joél Smet, Katrien Vanderheyden, Eveline Vanden Eynde, Maxime Verschoore, Jasper Anckaert, Pieter Mestdagh, Fariba Nemati, Jilke De Wilde, Jean-Christophe Marine, Peihua Zhao, Eric James de Bony, Jo Van Dorpe, Manuel Rodrigues

المصدر: Oncogene. 41:146-146

مصطلحات موضوعية: Cancer Research, Text mining, business.industry, Melanoma, Genetics, Cancer research, medicine, Biology, medicine.disease, business, Molecular Biology, Cell survival, Long non-coding RNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a175371c4ba56338c62a2bc867c54585
https://doi.org/10.1038/s41388-021-02051-6

المؤلفون: Michael A. Swanson, Austin Larson, Kaz M. Knight, Björn Menten, Johan L.K. Van Hove, Joél Smet, Christopher A. Powell, Marisa W. Friederich, Rudy Van Coster, Sara Seneca, Herbert Roeyers, Arnaud Vanlander, Boel De Paepe, Sarah Vergult, Michal Minczuk, Elise Vantroys

المساهمون: Minczuk, Michal [0000-0001-8242-1420], Apollo - University of Cambridge Repository, Clinical sciences, Medical Genetics, Reproduction and Genetics

المصدر: MOLECULAR GENETICS AND METABOLISM
Molecular Genetics and Metabolism

مصطلحات موضوعية: Male, 0301 basic medicine, Neurogenic bladder, Mitochondrial translation, Endocrinology, Diabetes and Metabolism, Hereditary spastic paraplegia, Respiratory chain, TRANSFER-RNA SYNTHETASE, Compound heterozygosity, Biochemistry, DISEASE, 0302 clinical medicine, Endocrinology, RNA, Transfer, Medicine and Health Sciences, Missense mutation, Aminoacylation, Exome, EPILEPSY, Cells, Cultured, Genetics, Brain, ENCEPHALOPATHY, Magnetic Resonance Imaging, Phenotype, Mitochondria, 3. Good health, Female, RESPIRATORY-CHAIN, LEIGH-SYNDROME, Heterozygote, Adolescent, DISORDERS, Mutation, Missense, Biology, DIAGNOSIS, Article, Amino Acyl-tRNA Synthetases, Mitochondrial Proteins, 03 medical and health sciences, Oxygen Consumption, C-OXIDASE DEFICIENCY, Journal Article, medicine, Humans, Muscle, Skeletal, Molecular Biology, Epilepsy, MUTATIONS, Spastic Paraplegia, Hereditary, Infant, Heterozygote advantage, FARS2, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Molecular biology, Early-onset epileptic encephalopathy, 030104 developmental biology, Mitochondrial aminoacyl-tRNA synthetase, Phenylalanine-tRNA Ligase, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a60a286b8eb5d30c4f5761f4b8b1418
https://doi.org/10.1016/j.ymgme.2017.10.004

المؤلفون: Martin Seyrich, Peter Cloetens, Rudy Van Coster, Peter Vandenabeele, Julio Cesar da Silva, Joél Smet, Björn De Samber, Eline Meul, Sylvain Bohic, Stephen Bauters, Tom Vanden Berghe, Laszlo Vincze, Boel De Paepe

المساهمون: Universiteit Gent = Ghent University [Belgium] (UGENT), Universiteit Antwerpen [Antwerpen], Deutsches Elektronen-Synchrotron [Hamburg] (DESY), Ghent University Hospital, Matériaux, Rayonnements, Structure (MRS), Institut Néel (NEEL), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA), European Synchrotron Radiation Facility (ESRF), Institut National de la Santé et de la Recherche Médicale (INSERM), DA SILVA, Julio, Universiteit Gent = Ghent University (UGENT), Universiteit Antwerpen = University of Antwerpen [Antwerpen], Matériaux, Rayonnements, Structure (NEEL - MRS)

المصدر: Journal of Synchrotron Radiation
Journal of Synchrotron Radiation, International Union of Crystallography, 2020, 27, pp.185-198. ⟨10.1107/S1600577519015510⟩
Journal of Synchrotron Radiation, 2020, 27, pp.185-198. ⟨10.1107/S1600577519015510⟩
Journal of synchrotron radiation
Journal of synchrotron radiation 27(1), 185-198 (2020). doi:10.1107/S1600577519015510

مصطلحات موضوعية: Cytoplasm, Tissue Fixation, [SPI.OPTI] Engineering Sciences [physics]/Optics / Photonic, [SDV]Life Sciences [q-bio], Cell, Holography, Mitochondrion, 0302 clinical medicine, iron, ddc:550, Instrumentation, 0303 health sciences, Radiation, Chemistry, Physics, imaging, 3. Good health, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, medicine.symptom, Single-Cell Analysis, Nuclear and High Energy Physics, Ataxia, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, 03 medical and health sciences, Organelle, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Fibroblast, Nanoscopic scale, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, 030304 developmental biology, Organelles, Endoplasmic reticulum, Spectrometry, X-Ray Emission, Friedreich's ataxia, nano-XRF, Fibroblasts, Carbon, quantification, Nanostructures, Cytosol, Freeze Drying, Friedreich Ataxia, Biophysics, [SPI.OPTI]Engineering Sciences [physics]/Optics / Photonic, 030217 neurology & neurosurgery, Synchrotrons

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd7d82c8e1fc61a75802ad40cc269317
https://hal.archives-ouvertes.fr/hal-02879711/document

المؤلفون: Björn Menten, Arnaud Vanlander, Tom Sante, Joél Smet, Sarah Vergult, Boel De Paepe, Rudy Van Coster, Elise Vantroys

المصدر: Journal of Inherited Metabolic Disease. 39:35-284

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, medicine.disease, 03 medical and health sciences, Epilepsy, 030104 developmental biology, Physical medicine and rehabilitation, Genetics, medicine, Physical therapy, Spastic, Autonomic disturbances, business, Paraplegia, Genetics (clinical), Motor regression

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1de7c49b9d55cfb4d108300db932a459
https://doi.org/10.1007/s10545-016-9969-2