المؤلفون: Sameer C. Dhamne, Meera E. Modi, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge, Lahin Lalani, Chloe E. Super, Samantha Schaeffer, Ketthsy Capre, Danuta Lubicka, Guiqing Liang, Doug Burdette, Stephanie M. McTighe, Sarika Gurnani, Sheryl Anne D. Vermudez, Daniel Curtis, Christopher J. Wilson, Mustafa Q. Hameed, Angelica D'Amore, Alexander Rotenberg, Mustafa Sahin

المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1790-1801 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/5e6e60c1d4644ed1b4ab20f434f5f54a

المؤلفون: Angelica D'Amore, Maria Marchese, Wardiya Afshar-Saber, Mustafa Q. Hameed

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: neurodevelopmental disorders (NDDs), Alzheimer's disease, animal model, induced pluripotent stem cells (IPSCs), ARSs, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1239577/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/f36dc7373a0f48a6a88f335977e20675

المؤلفون: Gabriele Pizzino, Natasha Irrera, Federica Galfo, Giacomo Oteri, Marco Atteritano, Giovanni Pallio, Federica Mannino, Angelica D’Amore, Enrica Pellegrino, Federica Aliquò, Giuseppe P. Anastasi, Giuseppina Cutroneo, Francesco Squadrito, Domenica Altavilla, Alessandra Bitto

المصدر: Frontiers in Pharmacology, Vol 13 (2022)

مصطلحات موضوعية: PDRN, Adenosine, glucocorticoids, osteoporosis, rats, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2022.1073618/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/7a476b9be9914a44978cdc8f5e140e1c

المؤلفون: Angelica D’Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 584-589 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/e705ad72625a42b6bdc07ccec9f43a7e

المؤلفون: Siddharth Srivastava, Angelica D’Amore, Julie S. Cohen, Lindsay C. Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 573-578 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/5e578e6b88534943875397040f482203

المؤلفون: Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari

المصدر: Stem Cell Research, Vol 53, Iss , Pp 102335- (2021)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506121001811; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/1a2c2c1c2a2c4516bb17492ea7c051c7

المؤلفون: Valentina Naef, Serena Mero, Gianluca Fichi, Angelica D'Amore, Asahi Ogi, Federica Gemignani, Filippo M. Santorelli, Maria Marchese

المصدر: Frontiers in Neuroscience, Vol 13 (2019)

مصطلحات موضوعية: zebrafish, hereditary ataxia (HA), hereditary spastic paraplegia (HSP), neurodegenerative disorders, motor neuron disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnins.2019.01311/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/70d3766d7ccd4e69a2c248ca21cfb28b

المؤلفون: Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean Dwyer, Teresa Chen, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-Fakhari

المصدر: Stem Cell Research, Vol 40, Iss , Pp - (2019)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506119302053; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/41717570b0b941e8bf0ac68810b4393e

المؤلفون: Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli

المصدر: Frontiers in Neurology, Vol 9 (2018)

مصطلحات موضوعية: hereditary spastic paraplegia, next generation sequencing, neurogenetics, diagnostic yield, variants of unknown significance, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.00981/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/88d19cc830784200a8ba57f6b7fe7905

المؤلفون: Gabriele Pizzino, Natasha Irrera, Federica Galfo, Giacomo Oteri, Marco Atteritano, Giovanni Pallio, Federica Mannino, Angelica D’Amore, Enrica Pellegrino, Federica Aliquò, Giuseppe P. Anastasi, Giuseppina Cutroneo, Francesco Squadrito, Domenica Altavilla, Alessandra Bitto

المصدر: Frontiers in Pharmacology, Vol 8 (2017)

مصطلحات موضوعية: osteoporosis, adenosine, PDRN, glucocorticoids, rats, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fphar.2017.00558/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/99179ac8a05f4db08cbc255e73b51ab5

المؤلفون: Roberta Battini, Giulia Bertocci, G. Fichi, Mustafa Sahin, Federico Sicca, Ivana Ricca, Daniele Galatolo, Darius Ebrahimi-Fakhari, Jacopo Baldacci, Federica Gemignani, Anna Rubegni, Maria Teresa Bassi, Filippo M. Santorelli, Angelica D'Amore, Andrea Citterio, Romina Romaniello, Jennifer Hirst, Serena Mero, Maria Marchese, Alessandra Tessa, Valentina Naef

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 584-589 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Protein subunit, Adaptor Protein Complex 4, Neurosciences. Biological psychiatry. Neuropsychiatry, Brief Communication, Cerebral palsy, Animals, Genetically Modified, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Spastic, Medicine, Animals, Humans, RC346-429, Zebrafish, Gene knockdown, Epilepsy, biology, Behavior, Animal, business.industry, Spastic Paraplegia, Hereditary, General Neuroscience, Cerebral Palsy, Signal transducing adaptor protein, High-Throughput Nucleotide Sequencing, medicine.disease, biology.organism_classification, Phenotype, Cell biology, Disease Models, Animal, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, Female, Neurology (clinical), Neurology. Diseases of the nervous system, business, Paraplegia, Brief Communications, 030217 neurology & neurosurgery, RC321-571

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc0bac310e1eef3e88abdecf1712a2c9
http://europepmc.org/articles/PMC7187712

المؤلفون: Barbara Brechmann, Sandrine Vuillaumier-Barrot, Kathrin Eberhardt, Mohammad Ali Faghihi, Jennifer Hirst, Jan De Bleecker, Lee Barrett, Stéphane Auvin, Afshin Saffari, Filippo M. Santorelli, Julian E. Alecu, Bernt Popp, Sonja Neuser, Darius Ebrahimi-Fakhari, Alexandra K Davies, Angelica D'Amore, Parham Habibzadeh, Hellen Jumo, Edward Yang, Marvin Ziegler, Mustafa Sahin

المساهمون: Ebrahimi-Fakhari, D [0000-0002-0026-4714], Habibzadeh, P [0000-0002-2086-0425], Auvin, S [0000-0003-3874-9749], Popp, B [0000-0002-3679-1081], Yang, E [0000-0002-9912-4163], Apollo - University of Cambridge Repository

المصدر: Brain Communications

مصطلحات موضوعية: Hereditary spastic paraplegia, Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, high-throughput imaging, Missense mutation, hereditary spastic paraplegia, 030304 developmental biology, 0303 health sciences, AcademicSubjects/SCI01870, General Engineering, Signal transducing adaptor protein, Adaptor Signaling Protein, medicine.disease, Subcellular localization, Molecular biology, Transmembrane protein, Biomarker (cell), Cytoplasm, biomarker, Original Article, AcademicSubjects/MED00310, adaptor protein complex 4, 030217 neurology & neurosurgery, functional assay

وصف الملف: application/pdf; application/zip

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e565d14b139dcc05a846c785c59bacfe

المؤلفون: Edward Yang, Bernt Popp, Afshin Saffari, Sonja Neuser, Filippo M. Santorelli, Hellen Jumo, Julian E. Alecu, Marvin Ziegler, Mustafa Sahin, Kathrin Eberhardt, Lee Barrett, Darius Ebrahimi-Fakhari, Barbara Brechmann, Angelica D'Amore, Jennifer Hirst

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

مصطلحات موضوعية: Functional assay, Hereditary spastic paraplegia, business.industry, medicine, Signal transducing adaptor protein, Distribution (pharmacology), High throughput imaging, medicine.disease, business, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aebd838dc49f508e536a283eee569349
https://doi.org/10.1055/s-0041-1739686

المؤلفون: Darius, Ebrahimi-Fakhari, Julian E, Alecu, Marvin, Ziegler, Gregory, Geisel, Catherine, Jordan, Angelica, D'Amore, Rebecca C, Yeh, Shyam K, Akula, Afshin, Saffari, Sanjay P, Prabhu, Mustafa, Sahin, Edward, Yang, Conny M A, van Ravenswaaij-Arts

المصدر: Neurology

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hereditary spastic paraplegia, business.industry, Spastic Paraplegia, Hereditary, Adaptor Protein Complex 4, Splenium, Anterior commissure, Neuroimaging, Status epilepticus, medicine.disease, Corpus callosum, Magnetic Resonance Imaging, Cerebral palsy, Corpus Callosum, White matter, medicine.anatomical_structure, medicine, Polymicrogyria, Humans, Neurology (clinical), medicine.symptom, business, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcfcacb2aaf18a724159e2e69ac27c77
https://pubmed.ncbi.nlm.nih.gov/34544818

المؤلفون: Giovanni Pallio, Federica Mannino, Angelica D'Amore, Federica Galfo, Alessandra Bitto, Natasha Irrera, Giuseppina T. Russo, Francesco Squadrito, Marco Calapai, Gabriele Pizzino, Domenica Altavilla, Antonio Ieni, Enrica Pellegrino

المصدر: British Journal of Pharmacology. 175:644-655

مصطلحات موضوعية: 0301 basic medicine, Pharmacology, medicine.medical_specialty, Messenger RNA, integumentary system, business.industry, Angiogenesis, Transgene, medicine.disease, Blot, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Diabetes mellitus, Internal medicine, microRNA, Medicine, Experimental pathology, business, Receptor, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6817edcf3d67b8e6f2ac5e95c704f6d5
https://doi.org/10.1111/bph.14113

المؤلفون: Miriam Wimmer, Mustafa Sahin, Henry Houlden, Elizabeth D. Buttermore, Joseph M. Scarrott, Antje Wiesener, Agathe Roubertie, Teresa Chen, Margaret S. Robinson, Sofia T. Duarte, Thomas Bourinaris, Robert Behne, Lee Barrett, Jonathan O. Lipton, Devorah Segal, James T. Bennett, Darius Ebrahimi-Fakhari, Jennifer Hirst, Julian Teinert, Andrea Martinuzzi, Kathrin Eberhardt, Angelica D'Amore, Filippo M. Santorelli, Barbara Brechmann, Georg H. H. Borner, Sean Dwyer, Ivy Pin-Fang Chen, Alexandra K Davies, Mimoun Azzouz

المصدر: Hum Mol Genet

مصطلحات موضوعية: Autophagosome, Male, Neurite, Adolescent, Protein subunit, Adaptor Protein Complex 4, Iron, Neurogenesis, Induced Pluripotent Stem Cells, Vesicular Transport Proteins, Autophagy-Related Proteins, Biology, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Genetics, medicine, Autophagy, Humans, Adaptor Protein Complex beta Subunits, Child, Molecular Biology, Genetics (clinical), 030304 developmental biology, Neurons, 0303 health sciences, Spastic Paraplegia, Hereditary, Neurodegeneration, Autophagosomes, Signal transducing adaptor protein, Adaptor Signaling Protein, Membrane Proteins, General Medicine, Fibroblasts, medicine.disease, Transport protein, Cell biology, Mitochondria, Protein Transport, Child, Preschool, Female, General Article, Microtubule-Associated Proteins, 030217 neurology & neurosurgery, trans-Golgi Network

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72475bec4d66828ce338e15e047d9884
https://europepmc.org/articles/PMC7001721/

المؤلفون: Ali Fatemi, Darius Ebrahimi-Fakhari, Angelica D'Amore, Julie S. Cohen, Antonella Pini, Siddharth Srivastava, Lindsay C. Swanson, Filippo M. Santorelli, Ivana Ricca

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 573-578 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, Neurosciences. Biological psychiatry. Neuropsychiatry, Brief Communication, Genetic analysis, Frameshift mutation, Cohort Studies, 03 medical and health sciences, Dysarthria, Consanguinity, 0302 clinical medicine, Chromosome (genetic algorithm), medicine, Humans, RC346-429, Child, Exome sequencing, Genetics, Movement Disorders, business.industry, General Neuroscience, Inheritance (genetic algorithm), Membrane Proteins, medicine.disease, Uniparental disomy, Pedigree, 030104 developmental biology, Phenotype, Child, Preschool, Sensorineural hearing loss, Female, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, business, Brief Communications, 030217 neurology & neurosurgery, RC321-571

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa858a9cf7bccbd8ff365118fd51b8fb
https://pubmed.ncbi.nlm.nih.gov/32147972

المؤلفون: Melissa Barghigiani, Federica Ginanneschi, Angelica D'Amore, Filippo M. Santorelli, Alessandra Tessa, Alessandro Rossi

المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 41(3)

مصطلحات موضوعية: Adult, Spastic gait, medicine.medical_specialty, Pediatrics, Neurology, Hereditary spastic paraplegia, Dermatology, Disease, 03 medical and health sciences, KIAA0196, 0302 clinical medicine, Hereditary spastic paraparesis Literature review KIAA0196 Strumpellin, medicine, Spastic, Humans, 030212 general & internal medicine, Genetic Association Studies, Paraplegia, business.industry, Spastic Paraplegia, Hereditary, Proteins, General Medicine, Middle Aged, medicine.disease, Pedigree, Psychiatry and Mental health, Italy, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093dd87565684915ce8b53390842bc92
https://pubmed.ncbi.nlm.nih.gov/31814071

المؤلفون: Yoshihisa Takiyama, Stefanie Brock, Jennifer Hirst, Niklas Dahl, Radka Kremlikova Pourova, Andrea Martinuzzi, Seth Perlman, Helene Verhelst, Omnia Fathy El-Rashidy, Nour Elkhateeb, Sarah I. Sheikh, Jamal Ghoumid, Erin Carmody, Georgia Xiromerisiou, Diego Miguel, James T. Bennett, Barbara Brechmann, William O. Walker, David Dacruz-Álvarez, Mathieu Anheim, Dana M. Jensen, Stefan Kölker, Uzma Shamshad, Darius Ebrahimi-Fakhari, Grace Yoon, Katharina Vill, David Bearden, Adel A. Mahmoud, Sheela Nampoothiri, Devorah Segal, Antje Wiesener, Shenela Lakhani, Joseph G. Gleeson, Chirag Patel, Angelica D'Amore, Abdelrahim Abdrabou Sadek, Marvin Ziegler, Mustafa Sahin, Toni S. Pearson, Julian Teinert, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Lubov Blumkin, Jonathan Baets, Laura Robelin, Daniel Ebrahimi-Fakhari, Parham Habibzadeh, Anju Shukla, Peter O. Bauer, Saskia Bulk, Afshin Saffari, Elizabeth Lim-Melia, Michael C. Kruer, Christian Beetz, Andreas Ziegler, Pankaj B. Agrawal, Thomas Bourinaris, Filippo M. Santorelli, Mireille Guillot, Abdullah Alamri, Mohammad Ali Faghihi, Kathrin Eberhardt, Thomas Smol, Henry Houlden, Nur Aydinli, Constanze Heine, Soroor Inaloo, Anaita Udwadia-Hegde, Alejandro Brea-Fernández, Yasemin Alanay, Rachana Dubey Gupta, Ayse Aksoy, Agathe Roubertie, Jens Volkmann, Basil T. Darras, Hendrik Langen, Mauricio R. Delgado, Jan Ulrich Schlump, Gregory Geisel, Anna Jansen, Somayeh Bakhtiari, Steven P. Miller, Miriam Wimmer, Maha S. Zaki, Premsai Nagabhyrava, Robert Behne, Hossein Darvish

المساهمون: Acibadem University Dspace

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, SPG47, Microcephaly, Pediatrics, medicine.medical_specialty, Adolescent, Hereditary spastic paraplegia, Adaptor Protein Complex 4, Cerebral palsy, Corpus Callosum, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Spastic diplegia, medicine, SPG51, Humans, SPG50, Registries, SPG52, Child, Tetraplegia, business.industry, Spastic Paraplegia, Hereditary, neurodegeneration, Infant, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Corrigenda, Hypotonia, 030104 developmental biology, Cross-Sectional Studies, Child, Preschool, Speech delay, Female, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery, Ventriculomegaly

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16bcaf88226cde8fedce925b8e3ea36
https://pubmed.ncbi.nlm.nih.gov/33294911

المؤلفون: Federica Ginanneschi, Angelica D’Amore, Melissa Barghigiani, Alessandra Tessa, Alessandro Rossi, Filippo Maria Santorelli

المساهمون: Ginanneschi, Federica, D'Amore, Angelica, Barghigiani, Melissa, Tessa, Alessandra, Rossi, Alessandro, Maria Santorelli, Filippo

مصطلحات موضوعية: Hereditary spastic paraparesis Literature review KIAA0196 Strumpellin

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31814071; info:eu-repo/semantics/altIdentifier/wos/WOS:000501768700001; firstpage:1; lastpage:5; numberofpages:5; journal:NEUROLOGICAL SCIENCES; http://hdl.handle.net/11365/1086942; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85076420745; https://link.springer.com/article/10.1007/s10072-019-04180-z

الاتاحة: http://hdl.handle.net/11365/1086942
https://doi.org/10.1007/s10072-019-04180-z
https://link.springer.com/article/10.1007/s10072-019-04180-z