المؤلفون: Tamara Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi‐Fakhari, Jennifer Friedman, Jean‐Pierre Lin, Jonathan Mink, Alexander Munchau, Daniela Munoz, Nardo Nardocci, Belen Perez‐Dueñas, Zomer Sardar, Chahnez Triki, Hilla Ben‐Pazi, Laura Silveira‐Moriyama, Monica Troncoso‐Schifferli, Kyoko Hoshino, Russell C. Dale, Victor S.C. Fung, Manju A. Kurian, Emmanuel Roze

المساهمون: Institut Català de la Salut, [Pringsheim T] Department of Clinical Neurosciences, Psychiatry, Pediatrics and Community Health Sciences, University of Calgary, Calgary, AB, Canada. [Batla A] Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK. [Shalash A] Department of Neurology, Faculty of medicine, Ain Shams Univeristy, Cairo, Egypt. [Sahu JK] Pediatric Neurology Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India. [Cosentino C] Department of Neurodegenerative Diseases, Instituto Nacional de Ciencias Neurologicas and School of Medicine, Universidad Nacional Mayor de San Marcos, Lima, Peru. [Ebrahimi-Fakhari D] Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA. [Perez-Dueñas B] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Centre for Biomedical Research of Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Investigative Techniques::Epidemiologic Methods::Data Collection::Surveys and Questionnaires [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Nervous System Diseases::Central Nervous System Diseases::Movement Disorders [DISEASES], Neurology, Trastorns motors, técnicas de investigación::métodos epidemiológicos::recopilación de datos::encuestas y cuestionarios [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], personas::Grupos de Edad::niño [DENOMINACIONES DE GRUPOS], enfermedades del sistema nervioso::enfermedades del sistema nervioso central::trastornos del movimiento [ENFERMEDADES], Neurology (clinical), Persons::Age Groups::Child [NAMED GROUPS], Infants, Enquestes

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08ed9f4656ceb2a51243c736588d1d8Test
https://doi.org/10.1002/mdc3.13728Test

المؤلفون: Julian E. Alecu, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Oleksandr Strelko, Catherine A. Brownstein, Joseph Gonzalez‐Heydrich, Lance H. Rodan, Mark P. Gorman, Mustafa Sahin, Darius Ebrahimi‐Fakhari

المصدر: Annals of Clinical and Translational Neurology. 9:570-576

مصطلحات موضوعية: Adolescent, Psychotic Disorders, Calpain, Spastic Paraplegia, Hereditary, General Neuroscience, Mutation, Humans, Neurology (clinical), Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::612adc392c1c5caabd22387c8177f59eTest
https://doi.org/10.1002/acn3.51531Test

المؤلفون: Avaneesh R. Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari

المصدر: Neurology Genetics. 8:e200041

مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f893b8eac0e1f4d4d9d946218c258955Test
https://doi.org/10.1212/nxg.0000000000200041Test

المؤلفون: Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O'Donnell‐Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava

المصدر: Annals of clinical and translational neurology. 9(2)

مصطلحات موضوعية: Cohort Studies, Male, Adolescent, General Neuroscience, Cerebral Palsy, Child, Preschool, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Neurology (clinical), Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d693dc0df3bfd8751dd36e957feac1Test
https://pubmed.ncbi.nlm.nih.gov/35076175Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc0bac310e1eef3e88abdecf1712a2c9Test
http://europepmc.org/articles/PMC7187712Test

المؤلفون: Catherine Jordan, Gregory Geisel, Mustafa Sahin, Julian E. Alecu, Darius Ebrahimi-Fakhari, Bo Zhang

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: medicine.medical_specialty, Hereditary spastic paraplegia, Article, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Disease severity, Quality of life, Rating scale, Spastic, Medicine, Genetics (clinical), 0303 health sciences, business.industry, 030305 genetics & heredity, Motor impairment, medicine.disease, Physical therapy, Neurology (clinical), business, Paraplegia, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf4e98223173587ef9eb99a8b4e563aTest
https://pubmed.ncbi.nlm.nih.gov/34295967Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa858a9cf7bccbd8ff365118fd51b8fbTest
https://pubmed.ncbi.nlm.nih.gov/32147972Test

المؤلفون: Clara C. Hildebrandt, Irina Anselm, Darius Ebrahimi-Fakhari, Olaf Bodamer, Lance H. Rodan, Peter E. Davis

المصدر: Movement Disorders Clinical Practice. 5:149-155

مصطلحات موضوعية: 0301 basic medicine, Dystonia, Pediatrics, medicine.medical_specialty, Ataxia, Movement disorders, business.industry, Parkinsonism, Neurogenetics, Chorea, medicine.disease, Article, nervous system diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Medicine, Neuronal ceroid lipofuscinosis, Neurology (clinical), medicine.symptom, business, Myoclonus, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ad27a0803e9c3eae41b3dae563d52b4Test
https://doi.org/10.1002/mdc3.12573Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16bcaf88226cde8fedce925b8e3ea36Test
https://pubmed.ncbi.nlm.nih.gov/33294911Test

المؤلفون: Harley I. Kornblum, Bianca E. Russell, Darius Ebrahimi-Fakhari, Angelica D'Amore, Gregory Geisel, Kathrin Eberhardt, Marvin Ziegler, Mustafa Sahin

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: 0301 basic medicine, Chromosome 7 (human), Microcephaly, Pathology, medicine.medical_specialty, business.industry, Hereditary spastic paraplegia, Silver–Russell syndrome, 030105 genetics & heredity, medicine.disease, Short stature, Article, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Uniparental Isodisomy, Medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Genetics (clinical), Ventriculomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0559fddca77006fc91b8c9ff662f6aa1Test
https://doi.org/10.1212/nxg.0000000000000544Test