المؤلفون: Mary Clare McKenna, Jana Kleinerova, Alan Power, Angela Garcia-Gallardo, Ee Ling Tan, Peter Bede

المصدر: Biology ; Volume 13 ; Issue 11 ; Pages: 909

مصطلحات موضوعية: spinal cord, MRI, biomarker, radiology, neurodegenerative conditions, ALS, Parkinson’s disease, ataxia, diffusion tensor imaging, hereditary spastic paraparesis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Neuroscience; https://dx.doi.org/10.3390/biology13110909

الاتاحة: https://doi.org/10.3390/biology13110909

المؤلفون: Alessandro Orsini, Andrea Santangelo, Alessandra Carmignani, Anna Camporeale, Francesco Massart, Nina Tyutyusheva, Diego Giampietro Peroni, Thomas Foiadelli, Alessandro Ferretti, Benedetta Toschi, Silvia Romano, Alice Bonuccelli

المصدر: Genes, Vol 15, Iss 4, p 436 (2024)

مصطلحات موضوعية: AP-4, ERF, epilepsy, AP-4 deficiency syndrome, ERF-related craniosynostosis, hereditary spastic paraparesis, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/4/436; https://doaj.org/toc/2073-4425; https://doaj.org/article/1682f8442ef04e14929c4ae4f0358f9b

الاتاحة: https://doi.org/10.3390/genes15040436
https://doaj.org/article/1682f8442ef04e14929c4ae4f0358f9b

المؤلفون: Roberto Tedeschi

المصدر: Brain Disorders, Vol 11, Iss , Pp 100097- (2023)

مصطلحات موضوعية: Gait abnormalities, Spasticity, Strumpell-Lorrain, Hereditary spastic paraparesis, Lower limb weakness, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666459323000343; https://doaj.org/toc/2666-4593

URL الوصول: https://doaj.org/article/7c99c14f6f37448386b1cad29f12d6e3

المؤلفون: Hans C. J. W. Kerstens, Maarten J. Nijkrake, Bert J. M. de Swart, Ria W. G. Nijhuis-van der Sanden, Marije Vos-van de Hulst, Gery J. Bos, Alexander C. H. Geurts, Philip J. van der Wees

المصدر: Journal of Rehabilitation Medicine, Vol 55 (2023)

مصطلحات موضوعية: stroke, hereditary spastic paraparesis, spasticity, feasibility studies, internet-based intervention, electronic health record, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://medicaljournalssweden.se/jrm/article/view/6572; https://doaj.org/toc/1651-2081

URL الوصول: https://doaj.org/article/cad28840d9c9441793ed6a32116a6313

المؤلفون: Kıraç Ünal, Zeynep

المصدر: Chronicles of Precision Medical Researchers, 4(1), 107-109, (2023-03-20)

مصطلحات موضوعية: Hereditary spastic paraparesis, polyneuropathy, rehabilitation

Relation: https://zenodo.org/communities/chronpmr; https://doi.org/10.5281/zenodo.7708922; https://doi.org/10.5281/zenodo.7708923; oai:zenodo.org:7708923

الاتاحة: https://doi.org/10.5281/zenodo.7708923

المؤلفون: Lallemant-Dudek, Pauline, Parodi, Livia, Coarelli, Giulia, Heinzmann, Anna, Charles, Perrine, Ewenczyk, Claire, Fenu, Silvia, Monin, Marie-Lorraine, Corcia, Philippe, Depienne, Christel, Mochel, Fanny, Benard, Jean, Tezenas Du Montcel, Sophie, Durr, Alexandra

المساهمون: 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), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Association Strümpell-Lorrain (Association ASL-HSP), Algorithms, models and methods for images and signals of the human brain = Algorithmes, modèles et méthodes pour les images et les signaux du cerveau humain ICM Paris (ARAMIS), Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau = Paris Brain Institute (ICM), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), The present work was funded by the VERUM Foundation for Behaviour and Environmentand iCRIN by Paris Brain Institute

المصدر: ISSN: 1877-0657 ; Annals of Physical and Rehabilitation Medicine ; https://hal.science/hal-04252199 ; Annals of Physical and Rehabilitation Medicine, 2023, 66 (6), pp.101732. ⟨10.1016/j.rehab.2023.101732⟩.

مصطلحات موضوعية: Coping, Hereditary spastic paraparesis, Physical activity, Physiotherapy, Spasticity, Survey, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: hal-04252199; https://hal.science/hal-04252199; https://hal.science/hal-04252199/document; https://hal.science/hal-04252199/file/AnnalesMPR_Modifspa_manuscript.v2.pdf

الاتاحة: https://hal.science/hal-04252199
https://hal.science/hal-04252199/document
https://hal.science/hal-04252199/file/AnnalesMPR_Modifspa_manuscript.v2.pdf
https://doi.org/10.1016/j.rehab.2023.101732

المؤلفون: Tjerk Joppe Lagrand, Gerard Hageman

المصدر: Case Reports in Neurology, Vol 12, Iss 3, Pp 329-333 (2020)

مصطلحات موضوعية: hereditary spastic paraparesis, spg7, ataxia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/509346; https://doaj.org/toc/1662-680X

URL الوصول: https://doaj.org/article/6c7c2c7f059c47d6b1291321aefc47a1

المؤلفون: Yung-Tsai Chu, Han-Yi Lin, Pei-Lung Chen, Chin-Hsien Lin

المصدر: BMC Neurology, Vol 20, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: PLA2G6, Dystonia-parkinsonism, Early-onset parkinsonism, Hereditary spastic paraparesis, Ataxia, PLA2G6-associated neurodegeneration, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-020-01684-6; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/d3d809cc09e942bba8c58746441f491a

المؤلفون: Sanchez Marco, S. B., Buhl, E., Firth, R., Zhu, B., Gainsborough, M., Beleza-Meireles, A., Moore, S., Caswell, R., Stals, K., Ellard, S., Kennedy, C., Hodge, J. J. L., Majumdar, A.

مصطلحات موضوعية: Add3, Drosophila, cerebral palsy, hereditary spastic paraparesis, hts, whole exome sequencing

Relation: https://doi.org/10.1111/cge.14220; Clin Genet. 2022 Aug 31. doi:10.1111/cge.14220.; https://rde.dspace-express.com/handle/11287/622560; Clinical genetics

الاتاحة: https://doi.org/10.1111/cge.14220
https://rde.dspace-express.com/handle/11287/622560

المؤلفون: Fostier, Michèle, Roland, V, Dereine, T, Deltombe, Thierry, Gustin, Thierry

المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service d'anesthésiologie, UCL - (MGD) Service de médecine physique et revalidation, UCL - (MGD) Service de neurochirurgie

المصدر: Journal of Clinical Images and Medical Case Reports, Vol. 2, no. 3, p. 1202 (2021)

مصطلحات موضوعية: Caesarean section, case report, hereditary spastic paraparesis, intrathecal baclofen, pregnancy

Relation: boreal:251032; http://hdl.handle.net/2078.1/251032; urn:ISSN:2766-7820

الاتاحة: http://hdl.handle.net/2078.1/251032

المؤلفون: Clara Vidic (11521867), Marcin Zaniew (7710905), Szymon Jurga (11521870), Holger Thiele (455371), Heiko Reutter (701370), Alina C. Hilger (11521873)

مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Sociology, Biological Sciences not elsewhere classified, DSTYK, Functional urinary bladder disturbance, HSP23, Hereditary spastic paraparesis, Epilepsy, CAKUT

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Exome_sequencing_implicates_a_novel_heterozygous_missense_variant_in_DSTYK_in_autosomal_dominant_lower_urinary_tract_dysfunction_and_mild_hereditary_spastic_paraparesis/16735717

الاتاحة: https://doi.org/10.6084/m9.figshare.16735717.v1

المؤلفون: Krister W. Fjermestad, Øivind Kanavin, Livø Nyhus, Lise B. Hoxmark

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

مصطلحات موضوعية: health service experiences, hereditary spastic paraparesis, HSP, neurofibromatosis type 1, NF1, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/1e969d0501834746acbc5a3862533b4a

المؤلفون: Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E. Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D. Buttermore, Lee Barrett, Georg H H Borner, Alexandra K. Davies, Mustafa Sahin, Darius Ebrahimi-Fakhari

مصطلحات موضوعية: Cell Biology, Neuroscience, Adaptor Protein AP, Hereditary spastic paraparesis, Small Molecule Compounds, phenotypic screens, High Throughput Assay, cell biologists

Relation: https://figshare.com/articles/dataset/High-Content_Screening_Identifies_A_Small_Molecule_That_Restores_AP-4-dependent_Protein_Trafficking_In_Neuronal_Models_Of_AP-4-Associated_Hereditary_Spastic_Paraplegia/23217491

الاتاحة: https://doi.org/10.6084/m9.figshare.23217491.v1
https://figshare.com/articles/dataset/High-Content_Screening_Identifies_A_Small_Molecule_That_Restores_AP-4-dependent_Protein_Trafficking_In_Neuronal_Models_Of_AP-4-Associated_Hereditary_Spastic_Paraplegia/23217491

المؤلفون: Nemani, T, Steel, D, Kaliakatsos, M, DeVile, C, Ververi, A, Scott, R, Getov, S, Sudhakar, S, Male, A, Mankad, K, Genomics England Research Consortium, Muntoni, F, Reilly, MM, Kurian, MA, Carr, L, Munot, P

المصدر: Journal of the Peripheral Nervous System , 25 (2) pp. 117-124. (2020)

مصطلحات موضوعية: KIF1A, dysautonomia, dystonia, hereditary spastic paraparesis, neuropathy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10095064/3/Kurian_KIF1A%20revision%20draft%20clean.pdf; https://discovery.ucl.ac.uk/id/eprint/10095064/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10095064/3/Kurian_KIF1A%20revision%20draft%20clean.pdf
https://discovery.ucl.ac.uk/id/eprint/10095064/

المؤلفون: Elke Pucks-Faes, Judith Dobesberger, Gabriel Hitzenberger, Heinrich Matzak, Andreas Mayr, Elena Fava, Eleonora Genelin, Leopold Saltuari

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: intrathecal baclofen, sporadic spastic paraparesis, hereditary spastic paraparesis, spasticity, device implantation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00901/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/f35187c52e86436d826521e04f0a2ae8

المؤلفون: Goffin, Nicolas, Nguyen, Virginie, Fostier, Michèle, Gustin, Thierry, Deltombe, Thierry

المساهمون: UCL - SSS/IREC/MEDA - Pôle de médecine aiguë, UCL - SSS/IONS - Institute of NeuroScience, UCL - (MGD) Service de médecine physique et revalidation, UCL - (MGD) Service d'anesthésiologie, UCL - (MGD) Service de neurochirurgie, UCL - SSS/IREC/MONT - Pôle Mont Godinne

المصدر: Journal of rehabilitation medicine clinical communications, Vol. 3 (2020) (2020)

مصطلحات موضوعية: serotonin syndrome, hereditary spastic paraparesis, intrathecal baclofen, paroxetine

Relation: boreal:226715; http://hdl.handle.net/2078.1/226715; urn:ISSN:2003-0711

الاتاحة: http://hdl.handle.net/2078.1/226715
https://doi.org/10.2340/20030711-1000026

المؤلفون: Wortmann, S.B., Mayr, J.A.

المصدر: J. Inherit. Metab. Dis. 42, 237-242 (2019)

مصطلحات موضوعية: Choline, Epilepsy, Fish Odor Disease, Hereditary Spastic Paraparesis, Uridine

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/30681159; info:eu-repo/semantics/altIdentifier/wos/WOS:000460859500005; info:eu-repo/semantics/altIdentifier/isbn/0141-8955; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55703; urn:isbn:0141-8955; urn:issn:0141-8955; urn:issn:1573-2665

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55703
https://doi.org/10.1002/jimd.12011

المؤلفون: Navas-Sánchez, F.J., Martín De Blas, D., Fernández-Pena, A., Alemán-Gómez, Y., Lage-Castellanos, A., Marcos-Vidal, L., Guzmán-De-Villoria, J.A., Catalina, I., Lillo, L., Muñoz-Blanco, J.L., Ugalde, A.O., Quintáns, B., Sobrido, M.J., Carmona, S., Grandas, F., Desco, M.

المصدر: Amyotrophic lateral sclerosis & frontotemporal degeneration, vol. 23, no. 1-2, pp. 25-34

مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, Humans, Motor Cortex/diagnostic imaging, Paraparesis, Spastic, Pyramidal Tracts/diagnostic imaging, Spastic Paraplegia, Hereditary/diagnostic imaging, Hereditary/genetics, Spastin/genetics, Hereditary spastic paraparesis, SPG4, cortical thickness, corticospinal, neuroimaging

Relation: info:eu-repo/semantics/altIdentifier/pmid/34396852; info:eu-repo/semantics/altIdentifier/eissn/2167-9223; https://serval.unil.ch/notice/serval:BIB_E7D0380B5BCB

الاتاحة: https://serval.unil.ch/notice/serval:BIB_E7D0380B5BCB
https://doi.org/10.1080/21678421.2021.1962353

المؤلفون: Guja Astrea, Anna Rita Ferrari, Stefania Della Vecchia, Cristina Sancricca, Anna Maria Pinto, Chiara Ticci, Claudia Dosi, Federico Melani, Greta Conti, Carlo Fusco, Antonella Pini, Diego Lopergolo, Ettore Cioffi, Alessandra Tessa, Carlo Casali, Alessandro Filla, Andrea Martinuzzi, Chiara Germiniasi, Romina Romaniello, Guido Primiano, Alessandra Renieri, Jacopo Baldacci, Filippo M. Santorelli, Elena Procopio, Renzo Guerrini, Salvatore Gallone, Shalom Haggiag, Chiara Fiorillo, Andrea Mignarri, Carlotta Spagnoli, Elena Panzeri, Francesca Pochiero, Antonella Antenora, Rosa Pasquariello, Giovanna De Michele, Maria Teresa Bassi, Anna Rubegni, Serenella Servidei, Roberta Battini

مصطلحات موضوعية: Spastic gait, medicine.medical_specialty, Heterozygote, Neurology, KIF1A neuroimaging, DNA Copy Number Variations, Respiratory chain, Kinesins, Bioinformatics, Psychiatric manifestation in neurological disease, Neuroimaging, medicine, Spastic, Humans, Spastic Paraplegia, Copy-number variation, KIF1A, Muscle biopsy, medicine.diagnostic_test, business.industry, Spastic Paraplegia, Hereditary, KIF1A phenotype, CoQ10, medicine.disease, Hereditary ataxia, Hereditary spastic paraparesis, Cross-Sectional Studies, Mutation, Phenotype, Hereditary, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6bc7fd51a1a5ca9e58594df4786c74
http://hdl.handle.net/11573/1619821

المؤلفون: Simonsen, Cecilia, Celius, Elisabeth, Brunborg, Cathrine, Tallaksen, Chantal, Eriksen, Erik, Holmøy, Trygve, Moen, Stine

مصطلحات موضوعية: Bone Mineral Density, Case control, Hereditary Ataxia, Hereditary Spastic Paraparesis, Multiple Sclerosis, Osteoporosis

Relation: http://www.biomedcentral.com/1471-2377/16/252

الاتاحة: http://www.biomedcentral.com/1471-2377/16/252