المؤلفون: Dandan Yan, Shaopei Chen, Fengying Cai, Jianbo Shu, Xiufang Zhi, Jie Zheng, Chunhua Zhang, Dong Li, Chunquan Cai

المصدر: Frontiers in Pediatrics, Vol 9 (2022)

مصطلحات موضوعية: SERAC1, complicated hereditary spastic paraplegia, novel variant, MEGDEL syndrome, 3-methylglutaconic aciduria, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.816265/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/5d3e7ddb40a846bdba4f0ab3d85d20eb

المؤلفون: Francesco Vetrini, Weimin He, Kathleen Pope, Melanie A. Manning, Jill A. Rosenfeld, Ye Cao, Carly E. Siskind, Yaping Yang, Rui Xiao

المصدر: Clinical Genetics. 99:477-480

مصطلحات موضوعية: business.industry, Genetics, Medicine, Complicated hereditary spastic paraplegia, business, Bioinformatics, Genetics (clinical), Genotype phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1611b806248c99ac14684739a4f6671e
https://doi.org/10.1111/cge.13870

المؤلفون: Shokoufeh Ahmadipour, Maryam Salehirad, Rezvan Pakmanesh, Masoud Edizadeh, Hamidreza Khodadadi, Soheila Akbari, Negar Chegeninejad, Kourosh Hayatigolkhatmi

المصدر: Clinical Case Reports, Vol 9, Iss 6, Pp n/a-n/a (2021)

مصطلحات موضوعية: Genetics, Medicine (General), spastic paraplegia, business.industry, Ethnic group, FA2H, General Medicine, developmental delay, R5-920, Medicine, whole‐exome sequencing, Complicated hereditary spastic paraplegia, business, TECPR2, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1def530da84708af94e2815ed483757f
https://doi.org/10.1002/ccr3.4293

المؤلفون: Jenny Carmichael, Federico Zara, Konstantinos Ampatzis, Somayeh Bakhtiari, Sherifa A. Hamed, Roman Chrast, Rolf Stucka, Juliane Müller, Gudrun Nürnberg, Nihal Olgaç Dündar, Erik-Jan Kamsteeg, Shoji Tsuji, Maja Di Rocco, Shazia Maqbool, Francisca Millan, Jonathan Baets, Tine Deconinck, Hanan E. Shamseldin, Tim M. Strom, Marcello Scala, Elham Alehabib, Cara M. Skraban, Isabella Ceccherini, Vincenzo Salpietro, Mohammed Anter Abdelhameed, Filippo M. Santorelli, Michele Iacomino, Peter De Jonghe, Yasuhiro Suzuki, Rossella Pasquariello, Anna Uhrova Meszarosova, James T Peterson, Ahmed Alfares, Yoshihisa Takiyama, Rebecca Schüle, Hossein Darvish, Yinghong Wang, Marta Rusmini, Selina Deschner, Adriana P. Rebelo, Fatima Rahman, Tobias B. Haack, Manuela Wiessner, Changlian Zhu, Matthis Synofzik, Filipa Bouçanova, Carsten Bergmann, Wolfgang Hüttel, Frederic Tran Mau-Them, Pavel Seeman, Elodie Lacaze, Andreas R. Janecke, Richard A. Lewis, Jin Yun Helen Chen, Meng-Yuan Ni, Michaela Auer-Grumbach, Andrea Català-Bordes, Ivana Ricca, Sheng Chih Jin, Dieter Gläser, Rita Horvath, Maryam Najafi, Jamileh Rezazadeh Varaghchi, Henry Houlden, Bart P.C. van de Warrenburg, Katheryn Grand, Gökhan Uyanik, Jan Senderek, Jean-Jacques Médard, Özgür Duman, Andrea Pedroni, Willem De Ridder, Reza Maroofian, Saghar Ghasemi Firouzabadi, Michael C. Kruer, H. Küpper, Emmanuelle Schmitt, Alistair T. Pagnamenta, Mary J H Willis, Kaya Bilguvar, Majid Alfadhel, Jonathan De Winter, Stephan Züchner, Saeed Al Tala, Hwei-Jen Lee, John M. Graham, Amy Goldstein, Ruben Portier, Stephanie Efthymiou, Yiran Xu, Ludger Schöls, Christian Beetz, Maria Gabriela Otero, Nicholas W. Wood, Najwa Anwar, Martin Kuchar, Fowzan S. Alkuraya, Tyler Mark Pierson, David Dredge, Nourelhoda A Haridy, Laetitia Lambert, Hiroyuki Ishiura, Peter Nürnberg, Luca Bartesaghi, Kishin Koh, Haitian Nan

المصدر: Brain

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, Original Articles, business, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c62b3f0a5a44914619f38830ad9f5e
https://pubmed.ncbi.nlm.nih.gov/33970200

المؤلفون: Melanie A. Manning, Kathleen Pope, Francesco Vetrini, Jill A. Rosenfeld, Carly E. Siskind, Ye Cao, Yaping Yang, Weimin He, Rui Xiao

مصطلحات موضوعية: Genetics, business.industry, Medicine, Complicated hereditary spastic paraplegia, business, Genotype phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1df8f2448c1dc32bbd5c13d8eb4237d9
https://doi.org/10.1111/cge.13870/v2/response1

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea444b861a4d526d708dff65d9a9029
https://doi.org/10.1007/s10048-018-0538-8

المؤلفون: Marialuisa Miele, F. Gaudiello, Celeste Montecchiani, Carlo Caltagirone, Antonio Orlacchio, Roberto Rumore, Toshitaka Kawarai

المصدر: Alzheimer's & Dementia. 14

مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, Health Policy, Disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Physical therapy, medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, Geriatrics and Gerontology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fb2d827e0eb96aaac4d2416390e32ba0
https://doi.org/10.1016/j.jalz.2018.06.1476

المؤلفون: Faber Ingrid, Martinez Alberto Rolim Muro, de Rezende Thiago Junqueira Ribeiro, Martins Carlos Roberto, Martins Melina Pazian, Lourenço Charles Marques, Marques Wilson, Montecchiani Celeste, Orlacchio Antonio, Pedroso Jose Luiz, Barsottini Orlando Graziani Povoas, Lopes-Cendes Íscia, França Marcondes Cavalcante

المساهمون: Faber, Ingrid, Martinez Alberto Rolim, Muro, de Rezende Thiago Junqueira, Ribeiro, Martins Carlos, Roberto, Martins Melina, Pazian, Lourenço Charles, Marque, Marques, Wilson, Montecchiani, Celeste, Orlacchio, Antonio, Pedroso Jose, Luiz, Barsottini Orlando Graziani, Povoa, Lopes-Cendes, Íscia, França Marcondes, Cavalcante

مصطلحات موضوعية: Complicated hereditary spastic paraplegia, Grey matter, Motor neuron disorder, SPG11, Spinal cord, Thinning of the corpus callosum, White matter

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29946510; info:eu-repo/semantics/altIdentifier/wos/WOS:000441936300087; volume:19; firstpage:848; lastpage:857; numberofpages:10; journal:NEUROIMAGE. CLINICAL; http://hdl.handle.net/11391/1432275; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048406540; http://www.journals.elsevier.com/neuroimage-clinical/

الاتاحة: http://hdl.handle.net/11391/1432275
https://doi.org/10.1016/j.nicl.2018.05.031
http://www.journals.elsevier.com/neuroimage-clinical/

المؤلفون: Perna, A., Masciullo, M., Modoni, A., Ricci, E., Silvestri, G.

المساهمون: Perna, Alessia, Masciullo, Marcella, Modoni, Anna, Cellini, E., Parrini, E., Ricci, Enzo, Donati, A. M., Silvestri, Gabriella

مصطلحات موضوعية: Betain, Cerebral white matter disease, Complicated hereditary spastic paraplegia, Hyperhomocysteinemia, Severe 5,10-methylenetetrahydrofolate reductase deficiency, Neurology, Neurology (clinical), Settore MED/26 - NEUROLOGIA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29284203; info:eu-repo/semantics/altIdentifier/wos/WOS:000425631500030; volume:25; issue:3; firstpage:602; lastpage:605; numberofpages:4; issueyear:2018; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/10807/112401; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041140274; http://www.wiley.com/bw/journal.asp?ref=1351-5101&site=1

الاتاحة: http://hdl.handle.net/10807/112401
https://doi.org/10.1111/ene.13557
http://www.wiley.com/bw/journal.asp?ref=1351-5101&site=1

المؤلفون: M. Masciullo, E. Cellini, Enzo Ricci, Anna Modoni, Alessia Perna, Elena Parrini, A. M. Donati, Gabriella Silvestri

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Hyperhomocysteinemia, Pediatrics, medicine.medical_specialty, 5 10 methylenetetrahydrofolate reductase, Betain, Methylenetetrahydrofolate reductase deficiency, Homocystinuria, Cerebral white matter disease, Complicated hereditary spastic paraplegia, Severe 5,10-methylenetetrahydrofolate reductase deficiency, Neurology, Neurology (clinical), Young Adult, 03 medical and health sciences, Mixed polyneuropathy, 0302 clinical medicine, Intellectual Disability, medicine, Humans, Severe 5, 10-methylenetetrahydrofolate reductase deficiency, Methylenetetrahydrofolate Reductase (NADPH2), biology, Spastic Paraplegia, Hereditary, business.industry, Siblings, medicine.disease, digestive system diseases, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Psychotic Disorders, Muscle Spasticity, Methylenetetrahydrofolate reductase, biology.protein, Diagnostic assessment, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83fa03cb3d5bc338c209d32c2ddeeeb
http://hdl.handle.net/10807/112401

المؤلفون: Orlando Graziani Povoas Barsottini, Ingrid Faber, Wilson Marques, Marcondes C. França, Melina Pazian Martins, Thiago Junqueira Ribeiro de Rezende, Carlos Roberto Martins, Charles Marques Lourenço, Antonio Orlacchio, Iscia Lopes-Cendes, Alberto R. M. Martinez, José Luiz Pedroso, Celeste Montecchiani

المصدر: NeuroImage: Clinical, Vol 19, Iss, Pp 848-857 (2018)
NeuroImage : Clinical

مصطلحات موضوعية: 0301 basic medicine, Nervous system, Pathology, CA, cord area, LH, left hemisphere, ROI, region of interest, SPRS, Spastic Paraplegia Rating Scale, lcsh:RC346-429, CE, cord eccentricity, 0302 clinical medicine, Basal ganglia, FA, fractional anisotropy, CST, corticospinal tract, Spinal cord, CMAP, compound muscle action potential, White matter, PNP, sensory-motor polyneuropathy, Regular Article, ALS, amyotrophic lateral sclerosis, NPI, neuropsychiatric inventory, medicine.anatomical_structure, Neurology, RH, right hemisphere, lcsh:R858-859.7, STS, cortex adjacent to the superior temporal sulcus, WES, whole exome sequencing, medicine.medical_specialty, Grey matter, Thinning of the corpus callosum, Hereditary spastic paraplegia, Cognitive Neuroscience, SC, spinal cord, lcsh:Computer applications to medicine. Medical informatics, MOCA, Montreal cognitive assessment, 03 medical and health sciences, Neuroimaging, medicine, Complicated hereditary spastic paraplegia, Motor neuron disorder, SPG11, Radiology, Nuclear Medicine and imaging, ACE-R, Addenbrooke's Cognitive Examination Revised, WM, white matter, lcsh:Neurology. Diseases of the nervous system, MD, mean diffusivity, HSP, hereditary spastic paraplegia, business.industry, GM, grey matter, medicine.disease, SNAP, sensory nerve action potential, 030104 developmental biology, Corticospinal tract, PNS, peripheral nervous system, DTI, diffusion tensor imaging, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6945de9359ab3ed19750ff5bf40b428a
http://hdl.handle.net/11391/1432275

المؤلفون: D. Dave, Pravin Naphade, Furqan Khan, Satish Nirhale, Shalesh Rohatgi, Prajwal Rao

المصدر: Journal of the Neurological Sciences. 405:89

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, 5 10 methylenetetrahydrofolate reductase, Neurology, business.industry, Medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c53ba6a5c025ba3d77e64cdc155516d6
https://doi.org/10.1016/j.jns.2019.10.1731

المؤلفون: Furqan Khan, Pravin Naphade, D. Dave, Satish Nirhale, Prajwal Rao, Shalesh Rohatgi

المصدر: Journal of the Neurological Sciences. 405:325

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, biology, business.industry, Methylenetetrahydrofolate reductase, biology.protein, Medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3dbbe7895e3272290f5fcb1ab703efc5
https://doi.org/10.1016/j.jns.2019.10.1436

المؤلفون: Marjo S. van der Knaap, Sietske H. Kevelam

المساهمون: Paediatric Neurology, Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D), CCA - Cancer biology and immunology

المصدر: Van Der Knaap, M S & Kevelam, S H 2017, ' Author response : Acute intermittent porphyria-related leukoencephalopathy ', Neurology, vol. 88, no. 7, pp. 718-719 . https://doi.org/10.1212/WNL.0000000000003625
Neurology, 88(7), 718-719. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Degenerative Disorder, business.industry, Disease, medicine.disease, nervous system diseases, Leukoencephalopathy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Leukoencephalopathies, Porphyria, Acute Intermittent, medicine, Humans, Neurology (clinical), Complicated hereditary spastic paraplegia, business, 030217 neurology & neurosurgery, Acute intermittent porphyria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fac5d7875b1fa5e2e9f32a54d8485b92
https://research.vumc.nl/en/publications/4f94a311-362d-4249-9161-55385ddf1d1a

المؤلفون: Rebecca Schüle

المصدر: Brain 140(12), e74-e74 (2017). doi:10.1093/brain/awx282

مصطلحات موضوعية: 0301 basic medicine, Genetics, Extramural, business.industry, Spastic Paraplegia, Hereditary, 030105 genetics & heredity, 03 medical and health sciences, Proton-Translocating ATPases, 0302 clinical medicine, Parkinsonian Disorders, Mutation (genetic algorithm), Mutation, ATP13A2 protein, human, Medicine, Humans, Neurology (clinical), Complicated hereditary spastic paraplegia, ddc:610, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cd16057bad399b83a3f740818bd2a21

المؤلفون: S. T. de Bot, B.P.C. van de Warrenburg, Erik-Jan Kamsteeg

المصدر: Brain, 140, 12, pp. e73
Brain, 140
Brain, 140, e73

مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), Medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, Proton-Translocating ATPases, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a02876bc13778a893652c0575ee43ea0
https://doi.org/10.1093/brain/awx280

المؤلفون: Teodora Chamova, S. van Veen, A Andreeva, Bob Asselbergh, Albena Jordanova, Peter Vangheluwe, D.I. Chang, Stephan Züchner, Shaun Martin, Tine Holemans, Alejandro Estrada-Cuzcano, Riet De Rycke, Ivailo Tournev, Danny Mollerup Sørensen, Jean Samuel

المصدر: Journal of the Neurological Sciences. 381:379-380

مصطلحات موضوعية: Genetics, Neurology, business.industry, Medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::99ea6c032a20f9afb04cdecc2d9b5900
https://doi.org/10.1016/j.jns.2017.08.3286

المؤلفون: Nouran Adly, Fowzan S. Alkuraya, Anas M. Alazami, Hisham Al Dhalaan

المصدر: Neurogenetics

مصطلحات موضوعية: Male, Hereditary spastic paraplegia, Short Communication, DNA Mutational Analysis, Intellectual disability, Locus (genetics), Endoplasmic-reticulum-associated protein degradation, Biology, Cellular and Molecular Neuroscience, Aphasia, Genetics, medicine, Humans, Genetics(clinical), Complicated hereditary spastic paraplegia, Child, Genetics (clinical), Spastic Paraplegia, Hereditary, Genetic heterogeneity, Membrane Proteins, Endoplasmic Reticulum-Associated Degradation, ERAD, ERLIN2, medicine.disease, Human genetics, Pedigree, Child, Preschool, Mutation, Corticospinal tract, Progressive spasticity, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::455337d3577bd43a9c7d38ff37f20c33
https://doi.org/10.1007/s10048-011-0291-8

المؤلفون: Evan Reid, P. Nisipeanu, Aziz Mazarib, David Withers, Sergiu C. Blumen, Saif Abu-Mouch, Michael Kahana, Rifka Inzelberg, Simon Bevan, R.L. Carasso, Ruth Navon, David Negus, Ahmad Mahamid, Hanoch Slor

المصدر: Annals of Neurology. 54:796-803

مصطلحات موضوعية: Adult, Genetic Markers, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Genetic Linkage, Hereditary spastic paraplegia, Skin Pigmentation, Locus (genetics), Gene Frequency, Spastic, medicine, Humans, Complicated hereditary spastic paraplegia, Genetics, Spastic Paraplegia, Hereditary, business.industry, Chromosome Mapping, Skin Diseases, Genetic, Chromosome, medicine.disease, Pedigree, nervous system diseases, Neurology, Chromosomes, Human, Pair 1, Genetic marker, Pigmentary abnormalities, Female, Neurology (clinical), Paraplegia, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd34edb478edee2bcf7c9f69585e64bd
https://doi.org/10.1002/ana.10768

المؤلفون: Jan Kassubek, Andrew H. Crosby, Ingo Uttner, Albert C. Ludolph, Beate Winner, C. Oliver Hanemann, Anne-Dorte Sperfeld

المصدر: Journal of Neurology. 251:1285-1287

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Neurology, Variation (linguistics), business.industry, Medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, Thin corpus callosum, business, Phenotype, Neuroradiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7c1806a5d0fb83b8c2b9cbab98a08bc6
https://doi.org/10.1007/s00415-004-0562-5