المؤلفون: Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani

المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-4 (2018)

مصطلحات موضوعية: Missense mutation, PLP1 gene, Connatal Pelizaeus-Merzbacher disease, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-018-1063-5; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/f733086834174ca782859d8ca61c842e

المؤلفون: Hanna Mierzewska, Ewa Jamroz, Tomasz Mazurczak, Dorota Hoffman-Zacharska, Elżbieta Szczepanik

المصدر: Folia Neuropathologica, Vol 54, Iss 1, Pp 59-65 (2016)

مصطلحات موضوعية: Pelizaeus-Merzbacher disease, hypomyelination, dysmyelination, leukodystrophy, PLP1 gene mutations, MRI, Medicine

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Pelizaeus-Merzbacher-disease-in-patients-with-molecularly-confirmed-diagnosis,20,27231,1,1.html; https://doaj.org/toc/1641-4640; https://doaj.org/toc/1509-572X

URL الوصول: https://doaj.org/article/8ce09d9be5484869a3b6f69660291d2d

المؤلفون: AKKUŞ, Nejmiye, ÖZYAVUZ ÇUBUK, Pelin

المصدر: Volume: 17, Issue: 6 445-450 ; 1307-4490 ; 2148-3566 ; Turkish Journal of Pediatric Disease ; Türkiye Çocuk Hastalıkları Dergisi

مصطلحات موضوعية: Pelizaeus-Merzbacher Hastalığı, PLP1 Geni, Dismiyelinizan Hastalıklar, Pelizaeus-Merzbacher Disease, PLP1 Gene, Dysmyelinating Disorders, Internal Diseases, İç Hastalıkları

وصف الملف: application/pdf

Relation: https://dergipark.org.tr/tr/download/article-file/3052492; https://dergipark.org.tr/tr/pub/tchd/issue/80995/1275274

الاتاحة: https://dergipark.org.tr/tr/pub/tchd/issue/80995/1275274
https://doi.org/10.12956/tchd.1275274

المؤلفون: MiHee Kwack, Yun Jeong Lee, Jong-Mok Lee, Ae Ryoung Kim

المصدر: Annals of Indian Academy of Neurology, Vol 24, Iss 6, Pp 958-960 (2021)

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Spastic, Medicine, Neurology (clinical), Neurology. Diseases of the nervous system, business, Paraplegia, medicine.disease, RC346-429, Plp1 gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18ffca7c891c286259841b77392422b6
http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=6;spage=958;epage=960;aulast=Kim

المؤلفون: Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, PERCESEPE, Antonio, Stanzial F, Rossi A, Vaurs Barrière C, Cooper DN, Filocamo M.

المساهمون: Grossi, S, Regis, S, Biancheri, R, Mort, M, Lualdi, S, Bertini, E, Uziel, G, Boespflug Tanguy, O, Simonati, A, Corsolini, F, Demir, E, Marchiani, V, Percesepe, Antonio, Stanzial, F, Rossi, A, Vaurs Barrière, C, Cooper, Dn, Filocamo, M.

مصطلحات موضوعية: plp1 gene, mutation analysis

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/21679407; info:eu-repo/semantics/altIdentifier/wos/WOS:000292204600001; volume:6; firstpage:40; lastpage:53; numberofpages:14; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11380/707780; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79959230718

الاتاحة: http://hdl.handle.net/11380/707780
https://doi.org/10.1186/1750-1172-6-40

المؤلفون: Igor Petrović, Nikola Kresojević, Aleksandra Tomić, V. Brankovic, Vladimir S. Kostic, Vedrana Milic Rasic, Valerija Dobricic, Marina Svetel

المصدر: Movement Disorders Clinical Practice. 5:548-550

مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, Leukodystrophy, Pelizaeus–Merzbacher disease, medicine.disease, Phenotype, Plp1 gene, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, medicine, Related disorder, Neurology (clinical), business, Novel mutation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76e007d1e02f728a84db5992cee0c0c3
https://doi.org/10.1002/mdc3.12644

المؤلفون: Ken Inoue

المصدر: Advances in Experimental Medicine and Biology ISBN: 9789813296350

مصطلحات موضوعية: Genetics, Proteolipid protein 1, Central nervous system, Pelizaeus–Merzbacher disease, Disease, Biology, medicine.disease, Phenotype, Plp1 gene, 03 medical and health sciences, Myelin, 0302 clinical medicine, medicine.anatomical_structure, medicine, 030212 general & internal medicine, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::28a2ef72c9f7908c2d37008432ffa7f2
https://doi.org/10.1007/978-981-32-9636-7_13

المؤلفون: Jaber Lyahyai, Abdelaziz Sefiani, Dan Spiegelman, Bouchra Ouled Amar Bencheikh, Guy A. Rouleau, Lamia Boualla, Patrick Cossette, Patrick A. Dion, Maria Mansouri, Alexandre Dionne-Laporte, Siham Chafai Elalaoui

المصدر: BMC Pediatrics
BMC Pediatrics, Vol 18, Iss 1, Pp 1-1 (2018)

مصطلحات موضوعية: Genetics, business.industry, lcsh:RJ1-570, Pelizaeus–Merzbacher disease, lcsh:Pediatrics, Case Report, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Connatal Pelizaeus-Merzbacher disease, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Missense mutation, 030212 general & internal medicine, business, PLP1 gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41cccc0a631957aba53eba2a5073f3ed
https://pubmed.ncbi.nlm.nih.gov/29486744

المؤلفون: Jufeng Xia, Ling Wang

المصدر: Intractable & Rare Diseases Research. 2013, 2(3):103

المؤلفون: Christian Beste, Jörg T. Epplen, Larissa Arning, Sebastian Ocklenburg, Erhan Genç, Onur Güntürkün, Wanda M. Gerding, Maximilian Raane

المصدر: Molecular neurobiology. 55(10)

مصطلحات موضوعية: Adult, Male, Contactin 1, Adolescent, Genotype, Neuroscience (miscellaneous), Single-nucleotide polymorphism, Biology, Corpus callosum, Polymorphism, Single Nucleotide, 050105 experimental psychology, Functional Laterality, Dichotic Listening Tests, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Humans, 0501 psychology and cognitive sciences, Attention, Myelin Proteolipid Protein, Language lateralization, Cerebrum, Aged, Dichotic listening, 05 social sciences, Cognition, Middle Aged, Plp1 gene, Variation (linguistics), Neurology, Acoustic Stimulation, Female, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48f5087f373c086ce72fc2534a0ac62d
https://pubmed.ncbi.nlm.nih.gov/29435918

المؤلفون: MJ Ruiz-Falcó, Jesús Molano, Roser Pons, M Muñoz-Calero, Elena Vallespín, Julián Nevado, J Campistol, A Dinopoulos, A Santana, Loreto Martorell, C Sierra, Paloma Martínez-Montero

المصدر: Clinical Genetics. 84:566-571

مصطلحات موضوعية: Genetics, Point mutation, Leukodystrophy, Pelizaeus–Merzbacher disease, Disease, Biology, medicine.disease, Gene dosage, Molecular biology, DNA sequencing, Plp1 gene, medicine, Multiplex, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2ed467cd83bab7eef09a655ae026820c
https://doi.org/10.1111/cge.12103

المؤلفون: Evangelos Pavlou, Anand Saggar, Rini Das, Clare Wilson, Maria Kinali, Victoria Vlachou, Kshitij Mankad, Efterpi Pavlidou, Vijaya Ramachandran, Veronica Govender

المصدر: Braindevelopment. 39(3)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Pelizaeus-Merzbacher Disease, Central nervous system, Disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Neuroimaging, medicine, Humans, Child, Myelin Proteolipid Protein, Mutation, business.industry, Siblings, Pelizaeus–Merzbacher disease, Optic Nerve, General Medicine, medicine.disease, Phenotype, Magnetic Resonance Imaging, Plp1 gene, 030104 developmental biology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Optic nerve, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bfd1737fa129e56a541f15a8ab00802
https://pubmed.ncbi.nlm.nih.gov/27793435

المؤلفون: Lamia Boualla, Patrick Cossette, Patrick A. Dion, Bouchra Ouled Amar Bencheikh, Jaber Lyahyai, Guy A. Rouleau, Alexandre Dionne-Laporte, Abdelaziz Sefiani, Maria Mansouri, Siham Chafai Elalaoui, Dan Spiegelman

المصدر: BMC Pediatrics
BMC Pediatrics, Vol 18, Iss 1, Pp 1-4 (2018)

مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, Pelizaeus-Merzbacher Disease, Genetic counseling, Mutation, Missense, Disease, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Connatal Pelizaeus-Merzbacher disease, Exome Sequencing, Medicine, Missense mutation, Humans, Family, Myelin Proteolipid Protein, Exome sequencing, Mutation, business.industry, lcsh:RJ1-570, Pelizaeus–Merzbacher disease, Correction, lcsh:Pediatrics, medicine.disease, Pedigree, Morocco, 030104 developmental biology, Genetic marker, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, PLP1 gene, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3463fa4d86796f2f49013b4b38fbc3b4
https://pubmed.ncbi.nlm.nih.gov/29665810

المؤلفون: Julia M. Edgar, Fredrik I. Gruenenfelder, Gemma Thomson, Jacques Penderis

المصدر: Journal of Anatomy. 219:33-43

مصطلحات موضوعية: Gene isoform, Histology, Proteolipid protein 1, Central nervous system, Pelizaeus–Merzbacher disease, Cell Biology, Biology, medicine.disease, Oligodendrocyte, Plp1 gene, Myelin, medicine.anatomical_structure, nervous system, Immunology, medicine, Anatomy, Axon, Molecular Biology, Neuroscience, Ecology, Evolution, Behavior and Systematics, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2a47c66221b51c0c1fedeb33304f82ee
https://doi.org/10.1111/j.1469-7580.2011.01363.x

المؤلفون: David Neil Cooper, Ercan Demir, Andrea Rossi, Fabio Corsolini, Serena Grossi, Valentina Marchiani, Roberta Biancheri, Susanna Lualdi, Alessandro Simonati, Mirella Filocamo, Antonio Percesepe, Matthew Mort, Graziella Uziel, Catherine Vaurs-Barrière, Enrico Bertini, Franco Stanzial, Odile Boespflug-Tanguy, Stefano Regis

المساهمون: S.S.D. Lab. Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G. Gaslini, U.O. Neuropsichiatria Infantile, Institute of Medical Genetics, Cardiff University-School of Medicine, Laboratory of Molecular Medicine, IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Child Neurology Department, Fondazione IRCCS Istituto Neurologico, Génétique, Reproduction et Développement (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Centre de référence des leucodystrophies, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Department of Neurological Neuropsychological, Morphological and Motor Sciences Section, Neurology-Child Neurology and Psychiatry Unit, Department of Child Neurology, Gazi University, U.O. Neuropsichiatria Infantile Azienda, Ospedaliera S.Orsola-Malpighi, Unit of Medical Genetics, Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia (UNIMORE)-Dept. of Mother and Child, Servizio di Consulenza Genetica, Centro Provinciale di Coordinamento della Rete delle Malattie Rare, Servizio di Neuroradiologia Pediatrica, The patient samples were obtained from the 'Cell Line and DNA Biobank from Patients Affected by Genetic Diseases' (G. Gaslini Institute) - Telethon Genetic Biobank Network (Project No. GTB07001A). This work was partially supported by grants from FP7-HEALTH - LeukoTreat no.241622, European Project: 241622,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,LEUKOTREAT(2010), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), Università degli Studi di Modena e Reggio Emilia (UNIMORE)-Dept. of Mother and Child, BMC, Ed., Therapeutic challenge in Leukodystrophies: Translational and ethical research towards clinical trials - LEUKOTREAT - - EC:FP7:HEALTH2010-03-01 - 2013-08-31 - 241622 - VALID

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.40. ⟨10.1186/1750-1172-6-40⟩
Orphanet Journal of Rare Diseases; Vol 6
Orphanet Journal of Rare Diseases, BioMed Central, 2011, 6 (1), pp.40. ⟨10.1186/1750-1172-6-40⟩
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 40 (2011)

مصطلحات موضوعية: Male, spastic paraplegia type 2, plp1 gene, Adolescent, lcsh:Medicine, PLP1 mutations, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, PLP1 Gene, medicine.disease_cause, Young Adult, 03 medical and health sciences, 0302 clinical medicine, PLP1-related disorders, Gene Duplication, Gene duplication, medicine, Humans, Missense mutation, Pelizaeus-Merzbacher disease, Genetics(clinical), Pharmacology (medical), Child, Myelin Proteolipid Protein, Gene, mutation analysis, Genetics (clinical), 030304 developmental biology, Genetics, Medicine(all), 0303 health sciences, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Spastic Paraplegia, Hereditary, Research, lcsh:R, Infant, DNA, General Medicine, Exon skipping, nervous system diseases, 3. Good health, Child, Preschool, RNA splicing, Allelic heterogeneity, 030217 neurology & neurosurgery, Minigene

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7c9ed4982257749b66dfb57db4702fb
https://www.hal.inserm.fr/inserm-00604396/document

المؤلفون: Fanny Mochel

مصطلحات موضوعية: Metabolomics, Nuclear magnetic resonance, Cerebrospinal fluid, Chemistry, 3-Hydroxyisobutyrate, Antipsychotic Medications, Nuclear magnetic resonance spectroscopy, D-arabinitol, HYPOACETYLASPARTIA, Plp1 gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2cc492cb9c086a265ea83b8deff085a0
https://doi.org/10.1017/cbo9780511996634.016

المؤلفون: Tomasz Mazurczak, Ewa Jamroz, Hanna Mierzewska, Elżbieta Szczepanik, Dorota Hoffman-Zacharska

المصدر: Europe PubMed Central
Folia Neuropathologica, Vol 54, Iss 1, Pp 59-65 (2016)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, leukodystrophy, Proteolipid protein 1, Adolescent, Pelizaeus-Merzbacher Disease, hypomyelination, lcsh:Medicine, Pathology and Forensic Medicine, Cerebral palsy, 03 medical and health sciences, Obligate carrier, medicine, Humans, Medical history, Genetic Predisposition to Disease, PLP1 gene mutations, Child, Genetic Association Studies, medicine.diagnostic_test, MRI, business.industry, Leukodystrophy, Pelizaeus-Merzbacher disease, lcsh:R, Pelizaeus–Merzbacher disease, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, Peripheral neuropathy, Phenotype, Child, Preschool, Mutation, Female, Neurology (clinical), business, dysmyelination

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a3eda1050cd37936a2c2892308c86e
http://europepmc.org/abstract/med/27179222

المؤلفون: Universitat Rovira i Virgili, Muntane, Gerard; Chillida, Marc; Aranda, Selena; Navarro, Arcadi; Vilella, Elisabet

المصدر: Brain And Behavior; 10.1002/brb3.2309; Brain And Behavior. 11 (8):

مصطلحات الفهرس: Behavioral Neuroscience,Behavioral Sciences,Neurosciences, White-matter, Weighted gene coexpression network analysis, Transcriptome, Sox10 gene, Slc2a5 gene, Schizophrenia risk gene, Schizophrenia, Receptor protein-tyrosine kinases, Protein tyrosine kinase, Plp1 gene, Pdgfra gene, Overlapping gene, Oligodendroglia, Oligodendrocytes, Oligodendrocyte related gene, Olig2 gene, Olig1 gene, Neurons, Myelination, Myelin, Microglia type 2, Microglia, Microarray analysis, Mbp gene, Mag gene, Humans, Human brain, Human, Genome-wide association study, Genetics, Gene ontology, Gene expression, Gene coexpression, Gene, Gac gene, Expression, Disorders, Discoidin domain receptor 1, Ddr1, Database, Cxc3l1 gene, Cspg4 gene, Col4a1 gene, Col1a1 gene, Coexpression, Cnp gene, Cldn11 gene, Cd53 gene, Brain development, Brain, Astrocytes, Astrocyte, Article, Analysis, Neurosciences, Medicina ii, Medicina i, Interdisciplinar, Farmacia, Engenharias iv, Ciências biológicas ii, Ciências biológicas i, Biotecnología, Behavioral sciences, Behavioral neuroscience, Journal Publications

URL: http://hdl.handle.net/20.500.11797/imarina9226231