المؤلفون: Thomas T. Warner, Nigel G. Laing, Maria Tsaousidou, Philip A. Wilkinson, Andrew H. Crosby, Philippa J. Lamont, Heema Patel, Michael A. Patton, Ricardo E. Madrid, Fayçal Hentati, Afif Hentati, Michael A. Simpson, Yi Yang, Teepu Siddique, Karim Ouahchi

المصدر: The American Journal of Human Genetics. 82:510-515

مصطلحات موضوعية: Neuroactive steroid, CYP7B1, Molecular Sequence Data, Cytochrome P450 Family 7, Axonal loss, Biology, medicine.disease_cause, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, Cytochrome P-450 Enzyme System, Report, Genetics, medicine, Homeostasis, Humans, Genetics(clinical), Amino Acid Sequence, Peptide sequence, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Spastic Paraplegia, Hereditary, Chromosome Mapping, Sequence Analysis, DNA, medicine.disease, Pedigree, Cell biology, Cholesterol, Liver, Steroid Hydroxylases, 030217 neurology & neurosurgery, Oxidative stress

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fef6d7f2fcceaf5c92223804f9d9c1d9Test
https://doi.org/10.1016/j.ajhg.2007.10.001Test

المؤلفون: Arthur P. Hays, Christian Kubisch, Ricardo E. Madrid

المصدر: Neurology. 65:1301-1303

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Caveolin 3, Rippling muscle disease, DNA Mutational Analysis, Muscle Fibers, Skeletal, Biology, Gene mutation, Caveolae, medicine.disease_cause, Achilles Tendon, Exon, Microscopy, Electron, Transmission, Muscular Diseases, Internal medicine, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Genetic Testing, Child, Muscle, Skeletal, Gene, Gait Disorders, Neurologic, Genes, Dominant, Early onset, Genetics, Mutation, Transition (genetics), Exons, Immunohistochemistry, Endocrinology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72034f3ac7449727a78ce360208fb55Test
https://doi.org/10.1212/01.wnl.0000180963.85963.73Test

المؤلفون: Haluk Topaloglu, Els De Vriendt, Argirios Dinopoulos, Esra Battaloglu, Kim Van Hoorenbeeck, Berten Ceulemans, Vincent Timmerman, Patrick Van Bogaert, Jonathan Baets, A. Pou-Serradell, Michaela Auer-Grumbach, Albena Jordanova, Yesim Parman, Peter Van den Bergh, Ricardo E. Madrid, Andrzej Kochański, Magdalena Zimoń, Dagmara Kabzińska, K. Peeters, Laetitia Yperzeele, Geoffrey P. Miller, Gian Maria Fabrizi, Günther Bernert, Birdal Bilir, Peter De Jonghe, Ronen Spiegel, Fernand Pauly, Satu-Leena Sallinen, Tine Deconinck

المساهمون: Çocuk Sağlığı ve Hastalıkları, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Brain, 134 (Pt 9
Brain
Brain : a journal of neurology, Vol. 134, no. 9, p. 2664-2676 (2011)

مصطلحات موضوعية: Génétique clinique, genotype-phenotype correlations, DNA Mutational Analysis, Disease, Charcot–Marie–Tooth disease, Dejerine-Sottas neuropathy, medicine.disease_cause, Bioinformatics, Cohort Studies, 0302 clinical medicine, Charcot-Marie-Tooth Disease, SH3TC2, Gene duplication, Age of Onset, Child, Genetics, 0303 health sciences, Mutation, early onset hereditary neuropathies, congenital hypomyelinating neuropathy, Dejerine–Sottas neuropathy, genotype–phenotype correlations, Middle Aged, Hypotonia, Phenotype, Child, Preschool, Hereditary Sensory and Motor Neuropathy -- genetics -- pathology -- physiopathology, medicine.symptom, Adult, Adolescent, Charcot-Marie-Tooth disease, 03 medical and health sciences, Young Adult, Neurologie, medicine, Humans, 030304 developmental biology, Aged, Genetic heterogeneity, business.industry, Infant, Original Articles, medicine.disease, Peripheral neuropathy, Charcot-Marie-Tooth Disease -- genetics -- pathology -- physiopathology, Neurology (clinical), Human medicine, Age of onset, business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery

وصف الملف: 2 full-text file(s): application/pdf; application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a38300dcc0daaeeed746ea51631b2759Test
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/108357Test

المؤلفون: Carolyn M. Ritterson, Ken Inoue, James R. Lupski, Ricardo E. Madrid, Jennifer A. Lee, James Y. Garbern, Grace M. Hobson, Karen Sperle

المصدر: Annals of neurology. 59(2)

مصطلحات موضوعية: Male, Proteolipid protein 1, Pelizaeus-Merzbacher Disease, Proteolipids, DNA Mutational Analysis, Neural Conduction, Sural nerve, medicine.disease_cause, Microscopy, Electron, Transmission, Sural Nerve, Gene duplication, Gene silencing, Medicine, Humans, Genetics, Mutation, MARVEL Domain-Containing Proteins, business.industry, Reverse Transcriptase Polymerase Chain Reaction, Pelizaeus–Merzbacher disease, Membrane Proteins, Nucleic Acid Hybridization, Peripheral Nervous System Diseases, medicine.disease, Magnetic Resonance Imaging, Neurology, Electrophoresis, Polyacrylamide Gel, Neurology (clinical), business, Neuroscience, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f4ba132042a986bff5f89e2ef38fd69Test
https://pubmed.ncbi.nlm.nih.gov/16374829Test