المؤلفون: Theuriet, Julian, Pegat, Antoine, Leblanc, Pascal, Vukusic, Sandra, Cazeneuve, Cécile, Millecamps, Stéphanie, Banneau, Guillaume, Guillaud-Bataille, Marine, Bernard, Emilien

المساهمون: Hôpital neurologique et neurochirurgical Pierre Wertheimer CHU - HCL, Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de Neuroradiologie Centre Hospitalier Lyon Sud - HCL, Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: ISSN: 2073-4425 ; Genes ; https://hal.sorbonne-universite.fr/hal-03457266 ; Genes, 2021, 12 (12), pp.1876. ⟨10.3390/genes12121876⟩.

مصطلحات موضوعية: hereditary spastic paraplegia, amyotrophic lateral sclerosis, SPG5, frontotemporal dementia, ALS/FTD, CYP7B1, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

الاتاحة: https://hal.sorbonne-universite.fr/hal-03457266
https://hal.sorbonne-universite.fr/hal-03457266v1/document
https://hal.sorbonne-universite.fr/hal-03457266v1/file/genes-12-01876.pdf
https://doi.org/10.3390/genes12121876

المؤلفون: Prestsæter, Sjur, Koht, Jeanette, Lamari, Foudil, Tallaksen, Chantal, M E, Hoven, Stian Tobias Juel, Vigeland, Magnus Dehli, Selmer, Kaja Kristine, Rydning, Siri Lynne

المساهمون: University of Oslo (UiO), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Oslo University Hospital Oslo

المصدر: ISSN: 0022-510X ; Journal of the Neurological Sciences ; https://hal.sorbonne-universite.fr/hal-03229666 ; Journal of the Neurological Sciences, 2020, 419, pp.117211. ⟨10.1016/j.jns.2020.117211⟩.

مصطلحات موضوعية: CYP7B1, Hereditary spastic paraplegia, Hydroxycholesterols, Oxysterols, SPG5, MESH: Brain, MESH: Genetic Testing, MESH: Humans, MESH: Hydroxycholesterols, MESH: Mutation, MESH: Pedigree, MESH: Severity of Illness Index, MESH: Spastic Paraplegia, Hereditary, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/33160247; hal-03229666; https://hal.sorbonne-universite.fr/hal-03229666; https://hal.sorbonne-universite.fr/hal-03229666/document; https://hal.sorbonne-universite.fr/hal-03229666/file/PIIS0022510X20305475.pdf; PUBMED: 33160247

الاتاحة: https://hal.sorbonne-universite.fr/hal-03229666
https://hal.sorbonne-universite.fr/hal-03229666/document
https://hal.sorbonne-universite.fr/hal-03229666/file/PIIS0022510X20305475.pdf
https://doi.org/10.1016/j.jns.2020.117211

المؤلفون: Anna Meljon, Peter J. Crick, Eylan Yutuc, Joyce L. Yau, Jonathan R. Seckl, Spyridon Theofilopoulos, Ernest Arenas, Yuqin Wang, William J. Griffiths

المصدر: Biomolecules; Volume 9; Issue 4; Pages: 149

مصطلحات موضوعية: cytochrome P450, CYP7B1, hereditary spastic paraplegia, SPG5, 25-hydroxycholesterol, 7α,25-dihydroxycholesterol, cholestenoic acid, cholesterol, liquid chromatography–mass spectrometry, multistage fragmentation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/biom9040149

الاتاحة: https://doi.org/10.3390/biom9040149

المؤلفون: Haitian Nan, Keisuke Shimozono, Kishin Koh, Mai Tsuchiya, Masaki Hiraide, Yoshihisa Takiyama, Yuta Ichinose

المصدر: Internal Medicine. 2019, 58(5):719

المؤلفون: Julian Theuriet, Antoine Pegat, Pascal Leblanc, Sandra Vukusic, Cécile Cazeneuve, Stéphanie Millecamps, Guillaume Banneau, Marine Guillaud-Bataille, Emilien Bernard

المساهمون: Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Neuroradiologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Unité fonctionnelle de neurogénétique moléculaire et cellulaire, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Gustave Roussy (IGR), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Gestionnaire, HAL Sorbonne Université 5

المصدر: Genes
Genes, MDPI, 2021, 12 (12), pp.1876. ⟨10.3390/genes12121876⟩
Genes, 2021, 12 (12), pp.1876. ⟨10.3390/genes12121876⟩
Genes, Vol 12, Iss 1876, p 1876 (2021)

مصطلحات موضوعية: amyotrophic lateral sclerosis, CYP7B1, Genetics, Case Report, ALS/FTD, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], QH426-470, hereditary spastic paraplegia, SPG5, frontotemporal dementia, nervous system diseases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::74b4e529025e71db958aa970b42135fd
https://hal.sorbonne-universite.fr/hal-03457266

المؤلفون: Mignarri, A, Malandrini, A, Monti, L, Ginanneschi, F, Tessa, A, Santorelli, F, Federico, A, Dotti, M., DEL PUPPO, MARINA, MAGNI, ALESSANDRO

المساهمون: Mignarri, A, Malandrini, A, DEL PUPPO, M, Magni, A, Monti, L, Ginanneschi, F, Tessa, A, Santorelli, F, Federico, A, Dotti, M

مصطلحات موضوعية: Spastic paraplegia type 5 (SPG5), cholesterol-lowering drug, neurological evaluation, MED/26 - NEUROLOGIA, BIO/10 - BIOCHIMICA

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/26566916; info:eu-repo/semantics/altIdentifier/wos/WOS:000365439600024; volume:262; issue:12; firstpage:2783; lastpage:2785; numberofpages:3; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/10281/106629; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84947866715

الاتاحة: http://hdl.handle.net/10281/106629
https://doi.org/10.1007/s00415-015-7971-5

المؤلفون: Jan-Åke Gustafsson, Ingemar Björkhem, Stefanie Schuster, Yvonne Schelling, Frédéric Chevessier-Tünnesen, Axel Teegler, Ludger Schöls, Nigel Horscroft, Thomas Schlake, Jeannette Hübener-Schmid, Rabea Betten, Stefan Hauser, Philip Höflinger, Marion Poenisch

المصدر: Molecular therapy 15, 359-370 (2019). doi:10.1016/j.omtm.2019.10.011
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 359-370 (2019)
Molecular Therapy. Methods & Clinical Development

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Oxysterol, CYP7B1, Hereditary spastic paraplegia, Genetic enhancement, Endogeny, Pharmacology, SPG5, Article, 03 medical and health sciences, 0302 clinical medicine, Pharmacokinetics, polycyclic compounds, Genetics, medicine, ddc:610, lcsh:QH573-671, Molecular Biology, Gene, Messenger RNA, lcsh:Cytology, business.industry, mRNA therapy, medicine.disease, gene therapy, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine, lipids (amino acids, peptides, and proteins), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8277177653ed05b358a5134453b27720
https://doi.org/10.1016/j.omtm.2019.10.011

المؤلفون: Siri Lynne Rydning, Jeanette Koht, Sjur Prestsæter, Chantal M. E. Tallaksen, Magnus Dehli Vigeland, Stian Tobias Juel Hoven, Foudil Lamari, Kaja Kristine Selmer

المساهمون: University of Oslo (UiO), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Oslo University Hospital [Oslo]

المصدر: Journal of the Neurological Sciences
Journal of the Neurological Sciences, Elsevier, 2020, 419, pp.117211. ⟨10.1016/j.jns.2020.117211⟩

مصطلحات موضوعية: Pathology, medicine.medical_specialty, MESH: Mutation, CYP7B1, Hereditary spastic paraplegia, MESH: Pedigree, [SDV]Life Sciences [q-bio], Physical examination, Norwegian, SPG5, Severity of Illness Index, 03 medical and health sciences, MESH: Brain, MESH: Hydroxycholesterols, 0302 clinical medicine, Pathognomonic, MESH: Severity of Illness Index, Hydroxycholesterols, medicine, Spastic, Humans, 030212 general & internal medicine, Genetic Testing, MESH: Spastic Paraplegia, Hereditary, MESH: Humans, medicine.diagnostic_test, MESH: Genetic Testing, business.industry, Spastic Paraplegia, Hereditary, Brain, Oxysterols, medicine.disease, language.human_language, 3. Good health, Pedigree, Neurology, Mutation, language, lipids (amino acids, peptides, and proteins), Neurology (clinical), Paraplegia, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d91fead76e35e08d66f75ec92963ff7e
https://pubmed.ncbi.nlm.nih.gov/33160247

المؤلفون: Haitian, Nan, Keisuke, Shimozono, Yuta, Ichinose, Mai, Tsuchiya, Kishin, Koh, Masaki, Hiraide, Yoshihisa, Takiyama

المصدر: Internal Medicine

مصطلحات موضوعية: CYP7B1, frameshift mutation, Spastic Paraplegia, Hereditary, white matter lesions, Homozygote, Cytochrome P450 Family 7, Brain, Case Report, Exons, SPG5, Magnetic Resonance Imaging, Steroid Hydroxylases, Exome Sequencing, Disease Progression, Humans, Exome, Female, hereditary spastic paraplegia, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b538ed9c4969e35028f70af5c1650afc
https://pubmed.ncbi.nlm.nih.gov/30333426

المؤلفون: Mignarri, A., Carecchio, M., Del Puppo, M., Magistrelli, L., Di Bella, D., Mont, L., Dotti, M. T.

المساهمون: Mignarri, A., Carecchio, M., Del Puppo, M., Magistrelli, L., Di Bella, D., Mont, L., Dotti, M. T.

مصطلحات موضوعية: 27-hydroxycholesterol, Brain MRI, CYP7B1, Ezetimibe, Oxysterol, SPG5, Simvastatin

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29246618; info:eu-repo/semantics/altIdentifier/wos/WOS:000423498200008; volume:383; firstpage:39; lastpage:41; numberofpages:3; journal:JOURNAL OF THE NEUROLOGICAL SCIENCES; http://hdl.handle.net/11365/1028646; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85031492341

الاتاحة: http://hdl.handle.net/11365/1028646
https://doi.org/10.1016/j.jns.2017.10.022

المؤلفون: Schöls, Ludger, Rattay, Tim W., Martus, Peter, Meisner, Christoph, Baets, Jonathan, Fischer, Imma, Jägle, Christine, Fraidakis, Matthew J., Martinuzzi, Andrea, Saute, Jonas Alex, Scarlato, Marina, Antenora, Antonella, Stendel, Claudia, Höflinger, Philip, Lourenco, Charles Marques, Abreu, Lisa, Smets, Katrien, Paucar, Martin, Deconinck, Tine, Bis, Dana M., Wiethoff, Sarah, Bauer, Peter, Arnoldi, Alessia, Marques, Wilson, Jardim, Laura Bannach, Hauser, Stefan, Criscuolo, Chiara, Filla, Alessandro, Züchner, Stephan, Bassi, Maria Teresa, Klopstock, Thomas, De Jonghe, Peter, Björkhem, Ingemar, Schüle, Rebecca

المساهمون: Schöls, Ludger, Rattay, Tim W., Martus, Peter, Meisner, Christoph, Baets, Jonathan, Fischer, Imma, Jägle, Christine, Fraidakis, Matthew J., Martinuzzi, Andrea, Saute, Jonas Alex, Scarlato, Marina, Antenora, Antonella, Stendel, Claudia, Höflinger, Philip, Lourenco, Charles Marque, Abreu, Lisa, Smets, Katrien, Paucar, Martin, Deconinck, Tine, Bis, Dana M., Wiethoff, Sarah, Bauer, Peter, Arnoldi, Alessia, Marques, Wilson, Jardim, Laura Bannach, Hauser, Stefan, Criscuolo, Chiara, Filla, Alessandro, Züchner, Stephan, Bassi, Maria Teresa, Klopstock, Thoma, De Jonghe, Peter, Björkhem, Ingemar, Schüle, Rebecca

مصطلحات موضوعية: biomarker, hereditary spastic paraplegia, oxysterol, randomized controlled trial, SPG5, Adolescent, Adult, Atorvastatin Calcium, Case-Control Studie, Cell Proliferation, Cross-Sectional Studie, Cytochrome P450 Family 7, Disease Progression, Double-Blind Method, Family, Female, Human, Hydroxycholesterol, Hydroxymethylglutaryl-CoA Reductase Inhibitor, Induced Pluripotent Stem Cell, Male, Middle Aged, Mutation, Neurite, Pedigree, Severity of Illness Index, Spastic Paraplegia, Hereditary, Steroid Hydroxylase, Young Adult

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000417337600015; volume:140; issue:12; firstpage:3112; lastpage:3127; numberofpages:16; journal:BRAIN; http://hdl.handle.net/11588/706079; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85038252603; http://brain.oxfordjournals.org/

الاتاحة: http://hdl.handle.net/11588/706079
https://doi.org/10.1093/brain/awx273
http://brain.oxfordjournals.org/

المؤلفون: Maria Teresa Dotti, Lucia Monti, Andrea Mignarri, Miryam Carecchio, Luca Magistrelli, Daniela Di Bella, Marina Del Puppo

المساهمون: Mignarri, A, Carecchio, M, Del Puppo, M, Magistrelli, L, Di Bella, D, Monti, L, Dotti, M

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Simvastatin, CYP7B1, 27-hydroxycholesterol, Brain MRI, Ezetimibe, Oxysterols, SPG5, Cytochrome P450 Family 7, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Oxysterol, Drug Therapy, Internal medicine, Brain mri, medicine, Humans, Spastic Paraplegia, MED/26 - NEUROLOGIA, business.industry, Anticholesteremic Agents, Siblings, Brain, Middle Aged, Phenotype, Hydroxycholesterols, Hereditary, Treatment Outcome, 030104 developmental biology, Endocrinology, chemistry, Neurology, Combination, Steroid Hydroxylases, 27-Hydroxycholesterol, Drug Therapy, Combination, Female, Spastic Paraplegia, Hereditary, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dc278ec005bb008f5849655755d78ad
http://hdl.handle.net/10281/185074

المؤلفون: CRISCUOLO, CHIARA, Carbone, R, LIETO, MARIA, PELUSO, SILVIO, Guacci, A, FILLA, ALESSANDRO, QUARANTELLI, MARIO, LANZILLO, ROBERTA, BRESCIA MORRA, VINCENZO, DE MICHELE, GIUSEPPE

المساهمون: Criscuolo, Chiara, Carbone, R, Lieto, Maria, Peluso, Silvio, Guacci, A, Filla, Alessandro, Quarantelli, Mario, Lanzillo, Roberta, BRESCIA MORRA, Vincenzo, DE MICHELE, Giuseppe

مصطلحات موضوعية: CYP7B1, SPG5, multiple sclerosi, spastic paraplegia

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000374044400001; volume:133; firstpage:410; lastpage:414; numberofpages:5; journal:ACTA NEUROLOGICA SCANDINAVICA; http://hdl.handle.net/11588/614046; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84941584873

الاتاحة: http://hdl.handle.net/11588/614046
https://doi.org/10.1111/ane.12476

المؤلفون: Arturo Brunetti, Rosa Carbone, Giovanni Coppola, Giuseppe De Michele, Mario Quarantelli, Chiara Criscuolo, Maria Fulvia de Leva, Q. Wang, Elena Salvatore, Stefano Pinto, Sabina Pappatà, Alessandro Filla, Daniel H. Geschwind, Sandro Banfi, Carlo Rinaldi

المساهمون: Criscuolo, C, Filla, Alessandro, Coppola, G, Rinaldi, C, Carbone, R, Pinto, S, Wang, Q, de Leva, Mf, Salvatore, Elena, Banfi, S, Brunetti, Arturo, Quarantelli, M, Geschwind, Dh, Pappatà, S, DE MICHELE, Giuseppe, Filla, A, Salvatore, E, Banfi, Sandro, Brunetti, A, De Michele, G.

المصدر: Journal of neurology
256 (2009): 1252–1257.
info:cnr-pdr/source/autori:Criscuolo, C; Filla, A; Coppola, G; Rinaldi, C; Carbone, R; Pinto, S; Wang, Q; de Leva, MF; Salvatore, E; Banfi, S; Brunetti, A; Quarantelli, M; Geschwind, DH; Pappata, S; De Michele, G/titolo:Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study/doi:/rivista:Journal of neurology (Print)/anno:2009/pagina_da:1252/pagina_a:1257/intervallo_pagine:1252–1257/volume:256

مصطلحات موضوعية: Adult, Genetic Markers, Male, Pathology, medicine.medical_specialty, Genotype, DNA Mutational Analysis, Cytochrome P450 Family 7, Hereditary spastic paraplegias, SPG5, medicine.disease_cause, Frameshift mutation, Exon, Gene Frequency, Cerebellum, medicine, Humans, Genetic Predisposition to Disease, genetics, Genetic Testing, RNA, Messenger, Spasticity, Frameshift Mutation, Gene, Genetic testing, Mutation, Polymorphism, Genetic, medicine.diagnostic_test, Spastic Paraplegia, Hereditary, business.industry, Middle Aged, Magnetic Resonance Imaging, Phenotype, Pedigree, PET, Italy, Neurology, Codon, Nonsense, Positron-Emission Tomography, Steroid Hydroxylases, Female, Neurology (clinical), medicine.symptom, business, MRI

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5653e211a86a16a6a7e8f361dcc92bb0
https://doi.org/10.1007/s00415-009-5109-3

المؤلفون: Filippo M. Santorelli, Andrea Mignarri, Alessandra Tessa, Alessandro Magni, Alessandro Malandrini, Maria Teresa Dotti, Federica Ginanneschi, Marina Del Puppo, Antonio Federico, Lucia Monti

المساهمون: Mignarri, A, Malandrini, A, DEL PUPPO, M, Magni, A, Monti, L, Ginanneschi, F, Tessa, A, Santorelli, F, Federico, A, Dotti, M

مصطلحات موضوعية: medicine.medical_specialty, Spastic paraplegia type 5 (SPG5), Neurology (clinical), Neurology, Gastroenterology, Liver disease, chemistry.chemical_compound, Ezetimibe, Modified Rankin Scale, Chenodeoxycholic acid, Internal medicine, medicine, Spastic, MED/26 - NEUROLOGIA, Cholesterol, business.industry, medicine.disease, BIO/10 - BIOCHIMICA, Surgery, chemistry, Simvastatin, neurological evaluation, Paraplegia, business, cholesterol-lowering drug, medicine.drug

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2db32a1a76da5f0f825bca130d641c84
http://hdl.handle.net/10281/106629

المؤلفون: DI FABIO, ROBERTO, MARCOTULLI, CHRISTIAN, Alessandra Tessa, Eugenia Storti, PIERELLI, Francesco, Filippo M. Santorelli, CASALI, Carlo, LEONARDI, LUCA

المساهمون: DI FABIO, Roberto, Marcotulli, Christian, Alessandra, Tessa, Eugenia, Storti, Pierelli, Francesco, Filippo M., Santorelli, Casali, Carlo, Leonardi, Luca

مصطلحات موضوعية: autosomal recessive, spg5, hereditary spastic paraplegia, sensory ataxia

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/24519355; info:eu-repo/semantics/altIdentifier/wos/WOS:000334177100014; volume:261; issue:4; firstpage:747; lastpage:751; numberofpages:5; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11573/559032; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84898885969; http://link.springer.com/article/10.1007%2Fs00415-014-7247-5

الاتاحة: http://hdl.handle.net/11573/559032
https://doi.org/10.1007/s00415-014-7247-5
http://link.springer.com/article/10.1007%2Fs00415-014-7247-5

المؤلفون: Mignarri, A, Malandrini, A, Monti, L, Ginanneschi, F, Tessa, A, Santorelli, FM, Federico, A, Dotti, MT, DEL PUPPO, MARINA, MAGNI, ALESSANDRO

المساهمون: Mignarri, A, Malandrini, A, DEL PUPPO, M, Magni, A, Monti, L, Ginanneschi, F, Tessa, A, Santorelli, F, Federico, A, Dotti, M

مصطلحات موضوعية: Hereditary spastic paraplegia type 5 (SPG5), 27-hydroxycholesterol, HMG CoA reductase inhibitors

Relation: info:eu-repo/semantics/altIdentifier/pmid/24509641; info:eu-repo/semantics/altIdentifier/wos/WOS:000332791600022; volume:261; issue:3; firstpage:617; lastpage:619; numberofpages:3; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/10281/50989; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84896494431

الاتاحة: http://hdl.handle.net/10281/50989
https://doi.org/10.1007/s00415-014-7253-7

المؤلفون: Maria Muglia, Chiara Criscuolo, Francesca Luisa Conforti, Paola Valentino, Alessandro Filla, Angela Magariello, Alessandra Patitucci, A. Epifanio, G. De Michele, Teresa Sprovieri, V. Scarano, P. La Spina, Rosalucia Mazzei, A. L. Gabriele, G. Ambrosio, Pio D'Adamo, Aldo Quattrone, Letterio Morgante, Paolo Gasparini

المساهمون: M., Muglia, C., Criscuolo, A., Magariello, Michele, G., V., Scarano, D'Adamo, ADAMO PIO, G., Ambrosio, a. L., Gabriele, A., Patitucci, R., Mazzei, F. L., Conforti, T., Sprovieri, L., Morgante, A., Epifanio, Spina, P., P., Valentino, Gasparini, Paolo, A., Filla, A., Quattrone, Muglia, M., Criscuolo, C., Magariello, A., DE MICHELE, Giuseppe, Scarano, V., D'Adamo, P., Ambrosio, G., Gabriele, A. L., Patitucci, A., Mazzei, R., Conforti, F. L., Sprovieri, T., Morgante, L., Epifanio, A., La Spina, P., Valentino, P., Gasparini, P., Filla, Alessandro, Quattrone, A.

المصدر: AIM-GSSNP, Taormina, 2004
info:cnr-pdr/source/autori:Muglia M, Criscuolo C, Magariello A, De Michele G, Scarano V, D’Adamo P, Ambrosio G, Gabriele AL, Patitucci A, Mazzei R, Conforti FL, Sprovieri T, Morgante L, Epifanio A, La Spina P, Valentino P, Gasparini P, Filla A, Quattrone A./congresso_nome:AIM-GSSNP/congresso_luogo:Taormina/congresso_data:2004/anno:2004/pagina_da:/pagina_a:/intervallo_pagine
XXXIV Congresso della Società Italiana di Neurologia, Roma, 2003
info:cnr-pdr/source/autori:M.Muglia, C. Criscuolo, A. Magariello, G. De Michele, V. Scarano, P. D?Adamo, G. Ambrosio, A.L. Gabriele, A. Patitucci, R. Mazzei, F.L. Conforti, T. Sprovieri, L. Morgante, A. Epifanio, P. La Spina, P. Valentino, P. Gasparini, A. Filla, A. Quattrone/congresso_nome:XXXIV Congresso della Società Italiana di Neurologia/congresso_luogo:Roma/congresso_data:2003/anno:2003/pagina_da:/pagina_a:/intervallo_pagine
Neurogenetics (Oxf., Print) 5 (2004): 49–54. doi:10.1007/s10048-003-0167-7
info:cnr-pdr/source/autori:Muglia M; Criscuolo C; Magariello A; De Michele G; Scarano V; D'Adamo P; Ambrosio G; Gabriele AL; Patitucci A; Mazzei R; Conforti FL; Sprovieri T; Morgante L; Epifanio A; La Spina P; Valentino P; Gasparini P; Filla A; Quattrone A./titolo:Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus./doi:10.1007%2Fs10048-003-0167-7/rivista:Neurogenetics (Oxf., Print)/anno:2004/pagina_da:49/pagina_a:54/intervallo_pagine:49–54/volume:5

مصطلحات موضوعية: Male, Candidate gene, Hereditary spastic paraplegia, Genetic analysis, Gene, Genetic Marker, Spastic, Genetics (clinical), Genetics, SPG5 locu, Linkage, General Neuroscience, Middle Aged, musculoskeletal system, Pedigree, Italy, Progressive spasticity, Microsatellite, Pair 8, genetic [Paraplegia], Female, Paraplegia, SPG5 locus, Chromosomes, Human, Pair 8, Human, Genetic Markers, Adult, Locus (genetics), Genes, Recessive, Biology, Chromosome, Chromosomes, Candidate genes, Association, Cellular and Molecular Neuroscience, Paraplegia: genetics, medicine, Humans, Recessive, Family Health, Neuroscience (all), Haplotype, medicine.disease, nervous system diseases, Autosomal recessive spastic paraplegia, Genes, Genetic marker, Lod Score, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6180ee6e08b172628ccc3e001c8ff28
https://hdl.handle.net/11368/2489170

المؤلفون: Andrea Mignarri, Lucia Monti, Federica Ginanneschi, Marina Del Puppo, Alessandra Tessa, Filippo M. Santorelli, Alessandro Malandrini, Maria Teresa Dotti, Antonio Federico, Alessandro Magni

المساهمون: Mignarri, A, Malandrini, A, DEL PUPPO, M, Magni, A, Monti, L, Ginanneschi, F, Tessa, A, Santorelli, F, Federico, A, Dotti, M

مصطلحات موضوعية: medicine.medical_specialty, Neurology, Hereditary spastic paraplegia, Neurological examination, BILE-ACID SYNTHESIS, DISEASE, 27-HYDROXYCHOLESTEROL, MUTATIONS, Gastroenterology, White matter, Cerebrospinal fluid, Internal medicine, Hereditary spastic paraplegia type 5 (SPG5), 27-hydroxycholesterol, HMG CoA reductase inhibitors, medicine, Spastic, Genetics, medicine.diagnostic_test, business.industry, medicine.disease, medicine.anatomical_structure, Neurology (clinical), Paraplegia, business, Centrum ovale

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa5d778f96a572004639096a22f6f957
http://hdl.handle.net/11365/46085

المؤلفون: Carlo Casali, Christian Marcotulli, Luca Leonardi, Francesco Pierelli, Alessandra Tessa, Eugenia Storti, Roberto Di Fabio, Filippo M. Santorelli

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Neurology, Adolescent, Cytochrome P450 Family 7, Pedigree chart, Audiology, medicine.disease_cause, Sensory ataxia, spg5, medicine, Humans, sensory ataxia, Age of Onset, Aged, Neuroradiology, Mutation, Spastic Paraplegia, Hereditary, business.industry, autosomal recessive, Exons, hereditary spastic paraplegias, Middle Aged, Gait, Hyperintensity, Pedigree, Steroid Hydroxylases, Ataxia, Female, Neurology (clinical), Age of onset, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50d0292eacfc2ec3c908c20002129fd6
http://hdl.handle.net/11573/559032