المؤلفون: Alexander German, Jelena Jukic, Andreas Laner, Philipp Arnold, Eileen Socher, Angelika Mennecke, Manuel A. Schmidt, Jürgen Winkler, Angela Abicht, Martin Regensburger

المصدر: Genes, Vol 15, Iss 1, p 14 (2023)

مصطلحات موضوعية: hereditary spastic paraplegia, SPG35, FA2H, FAHN, genetic variant modeling, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/1/14Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/59d3811eff3b429f8ddf9cda7e03b544Test

المؤلفون: Alessandro Romano, Filippo M. Santorelli, Jacopo Baldacci, Charles Marques Lourenḉo, M. Grazia Alessandrì, Renzo Guerrini, Francesco Mari, Alessandro Simonati, Elena Procopio, Riccardo Rizzi, Anna Rubegni, Beatrice Berti, Alessandra Tessa

المصدر: neurogenetics. 19:123-130

مصطلحات موضوعية: Adult, 0301 basic medicine, Adolescent, Neurodegeneration with brain iron accumulation, Mutation, Missense, complicated hereditary spastic paraplegia, FA2H, SPG35, Bioinformatics, Mixed Function Oxygenases, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, Dysarthria, 0302 clinical medicine, Genetics, Spastic, medicine, Humans, Child, Genetic Association Studies, Genetics (clinical), Dystonia, Spastic Paraplegia, Hereditary, business.industry, Neurodegeneration, Brain, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Protein Structure, Tertiary, 030104 developmental biology, Female, medicine.symptom, Paraplegia, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea444b861a4d526d708dff65d9a9029Test
https://doi.org/10.1007/s10048-018-0538-8Test

المؤلفون: Rattay, TW, Lindig, T, Baets, J, Smets, K, Deconinck, T, Söhn, AS, Hörtnagel, K, Eckstein, KN, Wiethoff, S, Reichbauer, J, Döbler-Neumann, M, Krägeloh-Mann, I, Auer-Grumbach, M, Plecko, B, Münchau, A, Wilken, B, Janauschek, M, Giese, AK, De Bleecker, Jan, Ortibus, E, Debyser, M, Lopez de Munain, A, Pujol, A, Bassi, MT, D'Angelo, MG, De Jonghe, P, Züchner, S, Bauer, P, Schöls, L, Schüle, R

المصدر: BRAIN ; ISSN: 0006-8950 ; ISSN: 1460-2156

مصطلحات موضوعية: Medicine and Health Sciences, SPG35, FAHN, FA2H, imaging biomarker, hereditary spastic paraplegia: HEREDITARY SPASTIC PARAPLEGIA, FATTY-ACID 2-HYDROXYLASE, IRON ACCUMULATION, COMPLICATED FORM, MUTATIONS, NEURODEGENERATION, PARAPARESIS, DISORDERS, DIAGNOSIS

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8618343Test; http://hdl.handle.net/1854/LU-8618343Test; http://dx.doi.org/10.1093/brain/awz102Test; https://biblio.ugent.be/publication/8618343/file/8618344Test

الإتاحة: https://doi.org/10.1093/brain/awz102Test
https://biblio.ugent.be/publication/8618343Test
http://hdl.handle.net/1854/LU-8618343Test
https://biblio.ugent.be/publication/8618343/file/8618344Test

المؤلفون: Mari, Francesco, Berti, Beatrice, Romano, Alessandro, Baldacci, Jacopo, Rizzi, Riccardo, Grazia Alessandrì, M, Tessa, Alessandra, Procopio, Elena, Rubegni, Anna, Lourenḉo, Charles Marques, Simonati, Alessandro, Guerrini, Renzo, Santorelli, Filippo Maria

المساهمون: Mari, Francesco, Berti, Beatrice, Romano, Alessandro, Baldacci, Jacopo, Rizzi, Riccardo, Grazia Alessandrì, M, Tessa, Alessandra, Procopio, Elena, Rubegni, Anna, Lourenḉo, Charles Marque, Simonati, Alessandro, Guerrini, Renzo, Santorelli, Filippo Maria

مصطلحات موضوعية: complicated hereditary spastic paraplegia, FA2H, SPG35

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29423566; info:eu-repo/semantics/altIdentifier/wos/WOS:000432523600006; volume:19; issue:2; firstpage:123; lastpage:130; numberofpages:8; journal:NEUROGENETICS; http://hdl.handle.net/11562/979868Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041524168; https://doi.org/10.1007/s10048-018-0538-8Test

الإتاحة: https://doi.org/10.1007/s10048-018-0538-8Test
http://hdl.handle.net/11562/979868Test

المؤلفون: Luigi Citrigno, Francesca Luisa Conforti, M. Muglia, Stephan Züchner, Alessandra Patitucci, Edoardo Ferlazzo, Angela Magariello, Umberto Aguglia, C Russo, Rosalucia Mazzei

المصدر: Journal of the neurological sciences 372 (2017): 347–349. doi:10.1016/j.jns.2016.11.069
info:cnr-pdr/source/autori:Magariello A.; Russo C.; Citrigno L.; Zuchner S.; Patitucci A.; Mazzei R.; Conforti F.L.; Ferlazzo E.; Aguglia U.; Muglia M./titolo:Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments/doi:10.1016%2Fj.jns.2016.11.069/rivista:Journal of the neurological sciences/anno:2017/pagina_da:347/pagina_a:349/intervallo_pagine:347–349/volume:372

مصطلحات موضوعية: 0301 basic medicine, Genetics, Family health, business.industry, Hereditary spastic paraplegia, SPG35, medicine.disease, nervous system diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, DNA Mutational Analysis, Medicine, HSP, Neurology (clinical), business, 030217 neurology & neurosurgery, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18557bb7745706c5b33fb8e111f9fd4bTest

المؤلفون: M. Muglia, C. Russo, L. Citrigno, S Züchner, M Gonzalez, A. Patitucci, R. Mazzei, FL. Conforti, O. Gallo, U Aguglia, A. Magariello

المصدر: 56° CONGRESSO NAZIONALE SNO, CATANIA, 18-21/05/2016
info:cnr-pdr/source/autori:M. Muglia, C. Russo, L. Citrigno, S Züchner, M Gonzalez, A. Patitucci, R. Mazzei, FL. Conforti, O. Gallo, U Aguglia and A. Magariello/congresso_nome:56° CONGRESSO NAZIONALE SNO/congresso_luogo:CATANIA/congresso_data:18-21%2F05%2F2016/anno:2016/pagina_da:/pagina_a:/intervallo_pagine

مصطلحات موضوعية: FA2H gene, SPG35, Exome Sequencing, HEREDITARY sPASTIC PARAPLEGIA, nervous system diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=cnr_________::8f403e09bb533c66b08502ebcefdf69bTest
http://www.cnr.it/prodotto/i/368928Test

المؤلفون: Marelli, Cecilia, Salih, Mustafa, Nguyen, Karine, Mallaret, Martial, Leboucq, Nicolas, Hassan, Hamdy, Drouot, Nathalie, Labauge, Pierre, Koenig, Michel

المساهمون: Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), King Saud University Riyadh (KSU), Hôpital de la Timone CHU - APHM (TIMONE), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier

المصدر: ISSN: 2330-1619 ; Movement Disorders Clinical Practice ; https://hal.science/hal-03827932Test ; Movement Disorders Clinical Practice, 2015, 2 (1), pp.56-60. ⟨10.1002/mdc3.12118⟩.

مصطلحات موضوعية: FA2H, SPG35, ataxia, autosomal recessive spastic paraplegia, neurodegeneration with brain iron accumulation (NBIA), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30713878; hal-03827932; https://hal.science/hal-03827932Test; PUBMED: 30713878; PUBMEDCENTRAL: PMC6353525

الإتاحة: https://doi.org/10.1002/mdc3.12118Test
https://hal.science/hal-03827932Test

المؤلفون: Hamdy H. Hassan, Pierre Labauge, Mustafa A. Salih, Michel Koenig, Nathalie Drouot, Karine Nguyen, Martial Mallaret, Nicolas Leboucq, Cecilia Marelli

المساهمون: Hôpital Gui de Chauliac [Montpellier], King Saud University [Riyadh] (KSU), Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Strasbourg, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), univOAK, Archive ouverte

المصدر: Movement Disorders Clinical Practice
Movement Disorders Clinical Practice, 2015, 2 (1), pp.56-60. ⟨10.1002/mdc3.12118⟩

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, Disease onset, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Cerebellar ataxia, Neurodegeneration with brain iron accumulation, SPG35, ataxia, FA2H, Biology, Autosomal recessive spastic paraplegia, Neurology, Cerebral mri, Basal ganglia, medicine, Case Series, Neurology (clinical), neurodegeneration with brain iron accumulation (NBIA), medicine.symptom, autosomal recessive spastic paraplegia, Neuroscience, Gene, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009d1f3dcea040aca036c3916d3d23a8Test
https://hal.science/hal-03827932Test

المؤلفون: Hardt, Robert

المساهمون: Eckhardt, Matthias, Hoch, Michael

مصطلحات موضوعية: FA2H, Sphingolipide, TMT, Quantitativ, Proteomik, SILAC, SILAC-IP, FA2H-KO, Opalin/TMEM10, Demyelinisierung, SPG35, FAHN, PGRMC1, PGRMC2, Bio-ID, PFA-Kreuzvernetzung, Interaktome, fatty acid 2-hydroxylase, BiFC, Twin-Streptag, Sphingolipids, Proteomics, Demyelination, PFA-crosslinking, quantitative, Interactome, ddc:570, ddc:610

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/urn/urn:nbn:de:hbz:5n-39216; https://hdl.handle.net/20.500.11811/6423Test

الإتاحة: https://doi.org/20.500.11811/6423Test
https://hdl.handle.net/20.500.11811/6423Test

المؤلفون: Rupps, Rosemarie, Hukin, Juliette, Balicki, Martha, Mercimek-Mahmutoglu, Saadet, Rolfs, Arndt, Dias, Cristina

المصدر: Rupps , R , Hukin , J , Balicki , M , Mercimek-Mahmutoglu , S , Rolfs , A & Dias , C 2013 , ' Novel mutations in FA2H-associated neurodegeneration : An underrecognized condition? ' , Journal of Child Neurology , vol. 28 , no. 11 , pp. 1500-1504 . https://doi.org/10.1177/0883073812458538Test

مصطلحات موضوعية: FA2H, hereditary spastic paraplegia, HSP, leukodystrophy, spastic paraparesis with dystonia, SPG35

الإتاحة: https://doi.org/10.1177/0883073812458538Test
https://kclpure.kcl.ac.uk/portal/en/publications/0c078c7f-b11b-43ef-8a92-8aa873a98690Test
http://www.scopus.com/inward/record.url?scp=84880723575&partnerID=8YFLogxKTest