Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

English (EN)·Polski (PL)·Ukraiński (UK)
Przejdź do strony domowej biblioteki Uniwersytet Ekonomiczny we Wrocławiu Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaUniwersytet Ekonomiczny we Wrocławiu

Wyszukujesz frazę ""Spastic Paraplegia, Hereditary"" wg kryterium: Temat

  Lista filtrów
Wyrównaj
Wyświetlanie 1-20 z 288
Tytuł:
Vitamin D 3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.
Autorzy:
Ehnert S; Siegfried Weller Research Institute at the BG Unfallklinik Tübingen, Department of Trauma and Reconstructive Surgery, University of Tübingen, Schnarrenbergstr. 95, 72076, Tübingen, Germany.
Hauser S; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.
Hengel H; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.
Höflinger P; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.
Schüle R; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.
Lindig T; Department of Diagnostic and Interventional Neuroradiology, University Hospital Tübingen, 72076, Tübingen, Germany.
Baets J; Neurogenetics Group, Center for Molecular Neurology, VIB, 2610, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, 2610, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610, Antwerp, Belgium.
Deconinck T; Neurogenetics Group, Center for Molecular Neurology, VIB, 2610, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, 2610, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610, Antwerp, Belgium.
de Jonghe P; Neurogenetics Group, Center for Molecular Neurology, VIB, 2610, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, 2610, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610, Antwerp, Belgium.
Histing T; BG Unfallklinik Tübingen, Department of Trauma and Reconstructive Surgery, University of Tübingen, Schnarrenbergstr. 95, 72076, Tübingen, Germany.
Nüssler AK; Siegfried Weller Research Institute at the BG Unfallklinik Tübingen, Department of Trauma and Reconstructive Surgery, University of Tübingen, Schnarrenbergstr. 95, 72076, Tübingen, Germany.
Schöls L; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany. .; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany. .; Center for Rare Diseases (ZSE), University of Tübingen, Tübingen, Germany. .
Rattay TW; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Hoppe-Seyler-Straße 3, 72076, Tübingen, Germany.; Center for Rare Diseases (ZSE), University of Tübingen, Tübingen, Germany.; Center for Rare Diseases (ZSE), University of Schleswig Holstein, Kiel, Germany.; Department of Neurology, Christian-Albrechts University, Kiel, Germany.
Pokaż więcej
Źródło:
Scientific reports [Sci Rep] 2024 Mar 27; Vol. 14 (1), pp. 7335. Date of Electronic Publication: 2024 Mar 27.
Typ publikacji:
Journal Article
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Spastic Paraplegia, Hereditary*/metabolism
Oxysterols*
Humans ; Mutation ; Paraplegia ; Homeostasis ; Vitamin D/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia.
Autorzy:
Diella E; Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy.
D'Angelo MG; Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy.
Stefan C; Scientific Institute, IRCCS E. Medea, Pieve di Soligo, Treviso, Italy.
Girardi G; Scientific Institute, IRCCS E. Medea, Pieve di Soligo, Treviso, Italy.
Morganti R; Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy.
Martinuzzi A; Scientific Institute, IRCCS E. Medea, Conegliano, Treviso, Italy.
Biffi E; Scientific Institute, IRCCS E. Medea, Bosisio Parini, Lecco, Italy.
Pokaż więcej
Źródło:
PloS one [PLoS One] 2024 Apr 01; Vol. 19 (4), pp. e0301452. Date of Electronic Publication: 2024 Apr 01 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Spastic Paraplegia, Hereditary*/diagnosis
Humans ; Reproducibility of Results ; Paraplegia ; Patient Reported Outcome Measures ; Italy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.
Autorzy:
Qiu Y; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Rare Disease Center, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Xiong Y; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Wang L; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Zhu M; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Rare Disease Center, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Tan D; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Rare Disease Center, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Hong D; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Rare Disease Center, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Institute of Neurology, Jiangxi Academy of Clinical Medical Science, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Key Laboratory of Rare Neurological Diseases of Jiangxi Provincial Health Commission, Jiangxi Medical College, Nanchang University, Nanchang, China.
Pokaż więcej
Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Apr; Vol. 11 (4), pp. 1067-1074. Date of Electronic Publication: 2024 Mar 04.
Typ publikacji:
Journal Article
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Ubiquinone*
Humans ; Mutation ; Paraplegia ; Homozygote
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An Automated Imaging-Based Screen for Genetic Modulators of ER Organisation in Cultured Human Cells.
Autorzy:
Garcia-Pardo ME; UCD School of Biomolecular and Biomedical Science, UCD Conway Institute, University College Dublin, 4 Dublin, Ireland.
Simpson JC; Cell Screening Laboratory, UCD School of Biology and Environmental Science, University College Dublin, 4 Dublin, Ireland.
O'Sullivan NC; UCD School of Biomolecular and Biomedical Science, UCD Conway Institute, University College Dublin, 4 Dublin, Ireland.
Pokaż więcej
Źródło:
Cells [Cells] 2024 Mar 26; Vol. 13 (7). Date of Electronic Publication: 2024 Mar 26.
Typ publikacji:
Journal Article
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Nervous System Diseases*
Animals ; Humans ; Membrane Proteins/metabolism ; Membrane Transport Proteins/genetics ; GTP-Binding Proteins/metabolism ; Mammals/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.
Autorzy:
Jiang H; Neuroscience and Cell Biology, Rutgers Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.
Giarratana AO; Neuroscience and Cell Biology, Rutgers Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.
Theis T; Cell Biology and Neuroscience, Rutgers School of Arts and Sciences, Piscataway, NJ 08854, USA.
Nagaraj V; Cell Biology and Neuroscience, Rutgers School of Arts and Sciences, Piscataway, NJ 08854, USA.
Zhou X; Neuroscience and Cell Biology, Rutgers Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.
Thakker-Varia S; Neuroscience and Cell Biology, Rutgers Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.
Schachner M; Cell Biology and Neuroscience, Rutgers School of Arts and Sciences, Piscataway, NJ 08854, USA.
Alder J; Neuroscience and Cell Biology, Rutgers Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 06; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 06.
Typ publikacji:
Journal Article
MeSH Terms:
Neural Cell Adhesion Molecule L1*/genetics
Neurodegenerative Diseases*
Hydrocephalus*/genetics
Brain Injuries, Traumatic*
Intellectual Disability*
Spastic Paraplegia, Hereditary*
Genetic Diseases, X-Linked*
Humans ; Male ; Animals ; Mice ; Polymorphism, Single Nucleotide
SCR Disease Name:
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.
Autorzy:
Damiani D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.
Baggiani M; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.
Della Vecchia S; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy.
Naef V; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.
Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 23; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 23.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Cerebellar Ataxia*
Pluripotent Stem Cells*
Animals ; Humans ; Neurons ; Axons ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.
Autorzy:
Chojdak-Łukasiewicz J; Department of Neurology, Wroclaw Medical University, 50-556 Wroclaw, Poland.
Sulima K; Department of Neurology, Wroclaw Medical University, 50-556 Wroclaw, Poland.
Zimny A; Department of General Radiology, Interventional Radiology and Neuroradiology, Wroclaw Medical University, 50-556 Wroclaw, Poland.
Waliszewska-Prosół M; Department of Neurology, Wroclaw Medical University, 50-556 Wroclaw, Poland.
Budrewicz S; Department of Neurology, Wroclaw Medical University, 50-556 Wroclaw, Poland.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 15; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 15.
Typ publikacji:
Case Reports
MeSH Terms:
Spastic Paraplegia, Hereditary*/diagnostic imaging
Spastic Paraplegia, Hereditary*/genetics
Humans ; Pyramidal Tracts/pathology ; Mitochondria/pathology ; Neuroimaging ; Mutation
SCR Disease Name:
Spastic paraplegia 11, autosomal recessive
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics.
Autorzy:
Wang J; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China.; State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL), Inner Mongolia University, Hohhot, 010070, China.
Wu Y; Department of Family Medicine, Inner Mongolia People's Hospital, Hohhot, 010057, China.
Dong H; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China.
Ji Y; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China.
Zhang L; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China.
Liu Y; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China.
Liu Y; State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL), Inner Mongolia University, Hohhot, 010070, China.
Gao X; Department of Pediatrics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China.
Jia Y; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China. .
Wang X; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010020, China. .
Pokaż więcej
Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Dec 08; Vol. 16 (1), pp. 321. Date of Electronic Publication: 2023 Dec 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Spastic Paraplegia, Hereditary*/pathology
Spastin*/genetics
Spastin*/metabolism
Female ; Humans ; Male ; Microtubules/genetics ; Mutation
SCR Disease Name:
Spastic Paraplegia Type 4
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.
Autorzy:
Wang J; Department of Neurology, First Hospital of Shanxi Medical University, Taiyuan, China.; First Clinical Medical College, Shanxi Medical University, Taiyuan, China.
Zhao R; Department of Neurology, First Hospital of Shanxi Medical University, Taiyuan, China.
Cao H; First Clinical Medical College, Shanxi Medical University, Taiyuan, China.
Yin Z; First Clinical Medical College, Shanxi Medical University, Taiyuan, China.
Ma J; First Clinical Medical College, Shanxi Medical University, Taiyuan, China.
Xing Y; First Clinical Medical College, Shanxi Medical University, Taiyuan, China.
Zhang W; Department of Neurology, First Hospital of Shanxi Medical University, Taiyuan, China.
Chang X; Department of Neurology, First Hospital of Shanxi Medical University, Taiyuan, China.
Guo J; Department of Neurology, First Hospital of Shanxi Medical University, Taiyuan, China.
Pokaż więcej
Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Nov; Vol. 10 (11), pp. 2139-2148. Date of Electronic Publication: 2023 Sep 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Spastic Paraplegia, Hereditary*/diagnosis
Adolescent ; Animals ; Mice ; Humans ; Mutation ; East Asian People ; HeLa Cells ; Endoplasmic Reticulum Stress/genetics ; Membrane Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
Autorzy:
Zhang Q; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yang Q; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Luo J; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Zhou X; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yi S; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Tan S; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Qin Z; Maternal and Child Health Hospital of Guangxi, Nanning, China. .; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .
Pokaż więcej
Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 31; Vol. 17 (1), pp. 44. Date of Electronic Publication: 2024 Jan 31.
Typ publikacji:
Journal Article
MeSH Terms:
Siblings*
Guanine Nucleotide Exchange Factors*/genetics
Amyotrophic Lateral Sclerosis*
Spastic Paraplegia, Hereditary*
Female ; Pregnancy ; Humans ; Mutation ; DNA Mutational Analysis ; Molecular Biology ; China ; Pedigree
SCR Disease Name:
Hereditary spastic paralysis, infantile onset ascending; Amyotrophic Lateral Sclerosis 2, Juvenile
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia.
Autorzy:
Malina J; Department of Neurology, University Hospital Essen, Essen, Germany.
Huessler EM; Institute for Medical Informatics, Biometry and Epidemiology, University Hospital Essen, Essen, Germany.
Jöckel KH; Institute for Medical Informatics, Biometry and Epidemiology, University Hospital Essen, Essen, Germany.
Boog-Whiteside E; Department of Neurology, University Hospital Essen, Essen, Germany.
Jeschonneck N; Department of Neurology, University Hospital Essen, Essen, Germany.
Schröder B; Center for Clinical Trials, University Hospital Essen, Essen, Germany.
Schüle R; Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Kühl T; Center for Clinical Trials, University Hospital Essen, Essen, Germany.
Klebe S; Department of Neurology, University Hospital Essen, Essen, Germany. .
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 02; Vol. 19 (1), pp. 2. Date of Electronic Publication: 2024 Jan 02.
Typ publikacji:
Journal Article
MeSH Terms:
Neurodegenerative Diseases*
Spastic Paraplegia, Hereditary*
Humans ; Quality of Life ; Reproducibility of Results ; Activities of Daily Living ; Surveys and Questionnaires ; Patient Reported Outcome Measures ; Psychometrics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Autorzy:
Martínez-Rubio D; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.; Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 València, Spain.
Hinarejos I; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.; Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 València, Spain.
Argente-Escrig H; Department of Neurology, Hospital Universitari Arnau de Vilanova, 46012 València, Spain.
Marco-Marín C; Structural Enzymopathology Unit, Instituto de Biomedicina de Valencia (IBV), Consejo Superior de Investigaciones Científicas (CSIC), 46022 València, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.
Lozano MA; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.
Gorría-Redondo N; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario de Navarra, Navarrabiomed, 31008 Pamplona, Spain.
Lupo V; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.
Martí-Carrera I; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario Donostia, 20014 Donostia, Spain.
Miranda C; Paediatric Neurology Unit, Department of Paediatrics, Hospital General Universitario Gregorio Marañón, 28027 Madrid, Spain.
Vázquez-López M; Paediatric Neurology Unit, Department of Paediatrics, Hospital General Universitario Gregorio Marañón, 28027 Madrid, Spain.
García-Pérez A; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario Fundación Alcorcón, Alcorcón, 28922 Madrid, Spain.
Marco-Hernández AV; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitari Doctor, Peset, 46017 València, Spain.
Tomás-Vila M; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Aguilera-Albesa S; Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario de Navarra, Navarrabiomed, 31008 Pamplona, Spain.
Espinós C; Rare Neurodegenerative Diseases Laboratory, Valencia Biomedical Research Foundation, Centro de Investigación Príncipe Felipe (CIPF), 46012 València, Spain.; Joint Unit CIPF-IIS La Fe Rare Diseases, 46012 València, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Biotechnology Department, Universitat Politècnica de València, 46022 València, Spain.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 16; Vol. 24 (22). Date of Electronic Publication: 2023 Nov 16.
Typ publikacji:
Journal Article
MeSH Terms:
Cerebellar Ataxia*/genetics
Cerebellar Ataxia*/diagnosis
Cerebellar Diseases*
Spastic Paraplegia, Hereditary*/genetics
Neurodegenerative Diseases*
Child ; Humans ; Genetic Heterogeneity ; Mutation ; Ataxia ; Phenotype ; Paraplegia ; Pedigree ; Atrophy ; Microtubule-Associated Proteins/genetics ; Membrane Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.
Autorzy:
Chou YT; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.
Hsu SL; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.
Tsai YS; Center for Systems and Synthetic Biology, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Lu YJ; Department of Neurosurgery, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.
Yu KW; Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan.
Wu HM; Department of Radiology, Taipei Veterans General Hospital, Taipei, Taiwan.
Liao YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Lee YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Neurology, National Yang Ming Chiao Tung University School of Medicine, Taipei, Taiwan.; Brain Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Department of Biological Science and Technology, College of Biological Science and Technology, National Yang Ming Chiao Tung University, Hsinchu, Taiwan.; Center for Intelligent Drug Systems and Smart Bio-devices (IDS2B), National Yang Ming Chiao Tung University, Hsinchu, Taiwan.
Pokaż więcej
Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Sep; Vol. 10 (9), pp. 1603-1612. Date of Electronic Publication: 2023 Jul 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Spastic Paraplegia, Hereditary*/pathology
Humans ; Adult ; Phospholipases/genetics ; Mutation ; Brain/diagnostic imaging ; Brain/pathology ; Homozygote
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
Autorzy:
Zhou X; Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, China.
Wang Y; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
He R; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Liu Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Xu Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Guo J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Yan X; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
Li J; Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, China.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Tang B; Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, China.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Zeng S; Department of Geriatrics, The Second Xiangya Hospital, Central South University, Changsha, China.
Sun Q; Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
Pokaż więcej
Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Sep; Vol. 10 (9), pp. 1590-1602. Date of Electronic Publication: 2023 Jul 20.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Humans ; Myelin Proteolipid Protein/genetics ; Mutation ; Mutation, Missense ; Phenotype ; Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning.
Autorzy:
Ollenschläger M; Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 6, Erlangen, 91054, Germany. .; Machine Learning and Data Analytics Lab, Department of Artificial Intelligence in Biomedical Engineering (AIBE), Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany. .
Höfner P; Machine Learning and Data Analytics Lab, Department of Artificial Intelligence in Biomedical Engineering (AIBE), Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Ullrich M; Machine Learning and Data Analytics Lab, Department of Artificial Intelligence in Biomedical Engineering (AIBE), Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Kluge F; Machine Learning and Data Analytics Lab, Department of Artificial Intelligence in Biomedical Engineering (AIBE), Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Greinwalder T; Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 6, Erlangen, 91054, Germany.
Loris E; Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 6, Erlangen, 91054, Germany.
Regensburger M; Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 6, Erlangen, 91054, Germany.; Center for Rare Diseases Erlangen (ZSEER), Universitätsklinikum Erlangen, Erlangen, Germany.
Eskofier BM; Machine Learning and Data Analytics Lab, Department of Artificial Intelligence in Biomedical Engineering (AIBE), Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Winkler J; Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 6, Erlangen, 91054, Germany.; Center for Rare Diseases Erlangen (ZSEER), Universitätsklinikum Erlangen, Erlangen, Germany.
Gaßner H; Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 6, Erlangen, 91054, Germany.; Fraunhofer IIS, Fraunhofer Institute for Integrated Circuits IIS, Erlangen, Germany.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 29; Vol. 18 (1), pp. 249. Date of Electronic Publication: 2023 Aug 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Spastic Paraplegia, Hereditary*/diagnosis
Humans ; Adult ; Algorithms ; Gait ; Hospitals ; Machine Learning
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Single-Sensor Approach to Quantify Gait in Patients with Hereditary Spastic Paraplegia.
Autorzy:
van Gelder LMA; Department of Mechanical Engineering, INSIGNEO Institute for In Silico Medicine, The University of Sheffield, Sheffield S10 2TN, UK.
Bonci T; Department of Mechanical Engineering, INSIGNEO Institute for In Silico Medicine, The University of Sheffield, Sheffield S10 2TN, UK.
Buckley EE; Department of Mechanical Engineering, INSIGNEO Institute for In Silico Medicine, The University of Sheffield, Sheffield S10 2TN, UK.
Price K; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust, University of Sheffield, Sheffield S10 2TN, UK.
Salis F; Department of Biomedical Sciences, University of Sassari, 07100 Sassari, Italy.
Hadjivassiliou M; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust, University of Sheffield, Sheffield S10 2TN, UK.
Mazzà C; Department of Mechanical Engineering, INSIGNEO Institute for In Silico Medicine, The University of Sheffield, Sheffield S10 2TN, UK.
Hewamadduma C; Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust, University of Sheffield, Sheffield S10 2TN, UK.; The Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield S10 2TN, UK.
Pokaż więcej
Źródło:
Sensors (Basel, Switzerland) [Sensors (Basel)] 2023 Jul 20; Vol. 23 (14). Date of Electronic Publication: 2023 Jul 20.
Typ publikacji:
Journal Article
MeSH Terms:
Spastic Paraplegia, Hereditary*/diagnosis
Gait Disorders, Neurologic*/diagnosis
Humans ; Reproducibility of Results ; Gait ; Walking
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.
Autorzy:
Sadr Z; Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Zare-Abdollahi D; Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Rohani M; Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran.
Alavi A; Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. .; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran. .
Pokaż więcej
Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Jul; Vol. 44 (7), pp. 2599-2602. Date of Electronic Publication: 2023 Mar 01.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Humans ; Iran ; Mutation/genetics ; Pedigree ; Spastin/genetics
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Autorzy:
Wang XC; Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, P.R. China.
Liu RH; Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China.
Wang T; Department of Nursing, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China.
Wang Y; Department of Nursing, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China.
Jiang Y; Clinical Medical College, Jining Medical University, Jining, Shandong 272000, P.R. China.
Chen DD; Clinical Medical College, Jining Medical University, Jining, Shandong 272000, P.R. China.
Wang XY; Clinical Medical College, Jining Medical University, Jining, Shandong 272000, P.R. China.
Hou TS; Second Clinical Medical College, Binzhou Medical University, Binzhou, Shandong 256600, P.R. China.
Kong QX; Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, P.R. China.
Pokaż więcej
Źródło:
Molecular medicine reports [Mol Med Rep] 2023 Apr; Vol. 27 (4). Date of Electronic Publication: 2023 Feb 24.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Spastic Paraplegia, Hereditary*/diagnosis
Spastic Paraplegia, Hereditary*/pathology
Humans ; Male ; Mutation, Missense ; Spastin/genetics ; Mutation
SCR Disease Name:
Spastic Paraplegia Type 4
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
PLP1 gene mutations cause spastic paraplegia type 2 in three families.
Autorzy:
Yao L; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.; Suzhou Hospital of Anhui Medical University, Suzhou Municipal Hospital of Anhui Province, Suzhou, 234000, China.
Zhu Z; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Zhang C; Suzhou Hospital of Anhui Medical University, Suzhou Municipal Hospital of Anhui Province, Suzhou, 234000, China.
Tian W; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Cao L; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200233, China.
Pokaż więcej
Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Mar; Vol. 10 (3), pp. 328-338. Date of Electronic Publication: 2023 Jan 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Spastic Paraplegia, Hereditary*/genetics
Spastic Paraplegia, Hereditary*/pathology
Humans ; Myelin Proteolipid Protein/genetics ; Tremor ; Mutation
SCR Disease Name:
Spastic paraplegia 2, X-linked
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Spinal cord stimulation may improve gait and cognition in hereditary spastic paraplegia with mental retardation: a case report.
Autorzy:
Tufo T; Neurosurgery Unit, IRCCS Fondazione Policlinico Universitario A.Gemelli, Rome, Italy.
Ciavarro M; IRCCS Neuromed, Pozzilli, IS, Italy. .
Di Giuda D; Nuclear Medicine Unit, IRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.; Department of Radiological and Hematological Sciences, Università Cattolica del Sacro Cuore, Rome, Italy.
Piccininni C; Department of Geriatrics, Neurosciences and Orthopedics, High Intensity Neurorehabilitation Unit, Policlinico Universitario A. Gemelli, Rome, Italy.
Piano C; Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
Daniele A; Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.; Neurology Unit, IRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
Pokaż więcej
Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Mar; Vol. 44 (3), pp. 961-966. Date of Electronic Publication: 2022 Nov 11.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Spastic Paraplegia, Hereditary*/complications
Spastic Paraplegia, Hereditary*/therapy
Spastic Paraplegia, Hereditary*/diagnosis
Intellectual Disability*/complications
Intellectual Disability*/therapy
Spinal Cord Stimulation*
Humans ; Male ; Dysarthria ; Cognition ; Muscle Spasticity ; Gait
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 288

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies