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Wyświetlanie 21-40 z 92238
Tytuł:
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
Autorzy:
Mair H; Department of Ophthalmology and Visual Sciences-Ophthalmic Genetics Service, University of Kentucky, Lexington, Kentucky, USA.
Fowler N; Department of Ophthalmology and Visual Sciences-Ophthalmic Genetics Service, University of Kentucky, Lexington, Kentucky, USA.
Papatzanaki ME; Department of Ophthalmology, Iassis Medical Center, Chania, Greece.
Sudhakar P; Department of Ophthalmology and Visual Sciences-Ophthalmic Genetics Service, University of Kentucky, Lexington, Kentucky, USA.; Department of Neurology, University of Kentucky, Lexington, Kentucky, USA.
Maldonado RS; Department of Ophthalmology and Visual Sciences-Ophthalmic Genetics Service, University of Kentucky, Lexington, Kentucky, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2022 Aug; Vol. 43 (4), pp. 567-572. Date of Electronic Publication: 2022 Apr 21.
Typ publikacji:
Journal Article
MeSH Terms:
Hearing Loss, Sensorineural*/diagnosis
Hearing Loss, Sensorineural*/genetics
Optic Atrophy*/diagnosis
Optic Atrophy*/genetics
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Humans ; Atrophy ; Membrane Proteins/genetics ; Mutation ; Mutation, Missense
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Impact of amyloid and tau positivity on longitudinal brain atrophy in cognitively normal individuals.
Autorzy:
Fujishima M; Department of Radiology, Kumagaya General Hospital, 4-5-1 Nakanishi, Kumagaya, 360-8567, Japan. .
Kawasaki Y; Department of Biostatistics, Graduate School of Medicine, Saitama Medical University, 38 Morohongo, Moroyama, 350-0495, Japan.; Biostatistics Section, Clinical Research Center, Chiba University Hospital, 1-8-1 Inohana, Chuo-Ku, Chiba, 260-8670, Japan.
Mitsuhashi T; Center for Innovative Clinical Medicine, Okayama University Hospital, 2-5-1 Shikata-Cho, Kita-Ku, Okayama, 700-8558, Japan.
Matsuda H; Department of Biofunctional Imaging, Fukushima Medical University, 1 Hikariga-Oka, Fukushima, 960-1295, Japan.; Drug Discovery and Cyclotron Research Center, Southern Tohoku Research Institute for Neuroscience, 7-61-2 Yatsuyamada, Koriyama, 963-8052, Japan.
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Corporate Authors:
Alzheimer’s Disease Neuroimaging Initiative
Źródło:
Alzheimer's research & therapy [Alzheimers Res Ther] 2024 Apr 10; Vol. 16 (1), pp. 77. Date of Electronic Publication: 2024 Apr 10.
Typ publikacji:
Journal Article
MeSH Terms:
Alzheimer Disease*/cerebrospinal fluid
Atrophy*/pathology
Brain*/pathology
Cognitive Dysfunction*/cerebrospinal fluid
Aged ; Female ; Humans ; Male ; Amyloid beta-Peptides/cerebrospinal fluid ; Amyloidogenic Proteins ; Biomarkers/cerebrospinal fluid ; Disease Progression ; Magnetic Resonance Imaging ; tau Proteins/cerebrospinal fluid
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Understanding the Impact of Polyunsaturated Fatty Acids on Age-Related Macular Degeneration: A Review.
Autorzy:
Brito M; Unither Développement Bordeaux, Avenue Toussaint Catros, 33185 Le Haillan, France.; Université Paris Cité, CNRS, INSERM, UTCBS, Unité de Technologies Chimiques et Biologiques pour la Santé, F-75006 Paris, France.; Département de Recherche et Développement (DRDP), Agence Générale des Equipements et Produits de Santé (AGEPS), Assistance Publique Hôpitaux de Paris (AP-HP), 7 Rue du Fer-à-Moulin, 75005 Paris, France.; Institute of Pharmaceutical Sciences of Western Switzerland (ISPSO), School of Pharmaceutical Sciences, University of Geneva, Rue Michel-Servet 1, 1206 Geneva, Switzerland.
Sorbier C; Unither Développement Bordeaux, Avenue Toussaint Catros, 33185 Le Haillan, France.
Mignet N; Université Paris Cité, CNRS, INSERM, UTCBS, Unité de Technologies Chimiques et Biologiques pour la Santé, F-75006 Paris, France.
Boudy V; Université Paris Cité, CNRS, INSERM, UTCBS, Unité de Technologies Chimiques et Biologiques pour la Santé, F-75006 Paris, France.; Département de Recherche et Développement (DRDP), Agence Générale des Equipements et Produits de Santé (AGEPS), Assistance Publique Hôpitaux de Paris (AP-HP), 7 Rue du Fer-à-Moulin, 75005 Paris, France.
Borchard G; Institute of Pharmaceutical Sciences of Western Switzerland (ISPSO), School of Pharmaceutical Sciences, University of Geneva, Rue Michel-Servet 1, 1206 Geneva, Switzerland.
Vacher G; Institute of Pharmaceutical Sciences of Western Switzerland (ISPSO), School of Pharmaceutical Sciences, University of Geneva, Rue Michel-Servet 1, 1206 Geneva, Switzerland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Apr 07; Vol. 25 (7). Date of Electronic Publication: 2024 Apr 07.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Wet Macular Degeneration*
Fatty Acids, Omega-3*/therapeutic use
Geographic Atrophy*
Humans ; Fatty Acids, Unsaturated/therapeutic use ; Fatty Acids
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.
Autorzy:
Emperador S; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Habbane M; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Laboratoire Biologie Et Santé, Faculté Des Sciences Ben M'Sick, Hassan II University of Casablanca, 20670, Casablanca, Morocco.
López-Gallardo E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Del Rio A; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.
Llobet L; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Certest Biotec, 50840-San Mateo de Gállego, Zaragoza, Spain.
Mateo J; Servicio de Oftalmología, Hospital Clínico Universitario Lozano Blesa, 50009, Zaragoza, Spain.
Sanz-López AM; Servicio de Oftalmología, Hospital Universitario de Toledo, 45004, Toledo, Spain.
Fernández-García MJ; Servicio de Oftalmología, Hospital Universitario de Toledo, 45004, Toledo, Spain.
Sánchez-Tocino H; Servicio de Oftalmología. Hospital Universitario Río Hortega, 47012, Valladolid, Spain.
Benbunan-Ferreiro S; Servicio de Oftalmología. Hospital Universitario Río Hortega, 47012, Valladolid, Spain.
Calabuig-Goena M; Servicio de Oftalmología. Hospital Universitario Río Hortega, 47012, Valladolid, Spain.
Narvaez-Palazón C; Instituto Oftalmológico Recoletas, 47004, Valladolid, Spain.
Fernández-Vega B; Instituto Oftalmológico Fernández-Vega, 33012-Oviedo, Asturias, Spain.
González-Iglesias H; Instituto de Productos Lácteos de Asturias, Consejo Superior de Investigaciones Científicas (IPLA-CSIC), 33300-Villaviciosa, Asturias, Spain.
Urreizti R; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Departament de Bioquímica Clínica, Institut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.
Artuch R; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Departament de Bioquímica Clínica, Institut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.
Pacheu-Grau D; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Bayona-Bafaluy P; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Instituto de Biocomputación y Física de Sistemas Complejos (BIFI), Universidad de Zaragoza, 50018, Zaragoza, Spain.
Montoya J; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain. .; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain. .; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. .
Ruiz-Pesini E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain. .; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain. .; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 06; Vol. 19 (1), pp. 148. Date of Electronic Publication: 2024 Apr 06.
Typ publikacji:
Journal Article
MeSH Terms:
DNA, Mitochondrial*/genetics
Optic Atrophy, Hereditary, Leber*/genetics
Humans ; Pedigree ; Mutation/genetics ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy.
Autorzy:
Lapp HS; Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Freigang M; Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Friese J; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany.
Bernsen S; Department of Neurodegenerative Diseases, University Hospital Bonn, Bonn, Germany.
Tüngler V; Department of Neuropediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
von der Hagen M; Department of Neuropediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Weydt P; Department of Neurodegenerative Diseases, University Hospital Bonn, Bonn, Germany.
Günther R; Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. .; German Center for Neurodegenerative Diseases, Dresden, Germany. .
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Źródło:
Scientific reports [Sci Rep] 2024 Mar 19; Vol. 14 (1), pp. 6634. Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Troponin T*/genetics
Muscular Atrophy, Spinal*/diagnosis
Adult ; Humans ; Child ; Retrospective Studies ; Troponin I ; Biomarkers
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study.
Autorzy:
Iammarino MA; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Alfano LN; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America.
Reash NF; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Sabo B; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Conroy S; Center for Biostatistics, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States of America.; Biostatistics Resource at Nationwide Children's Hospital, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Noritz G; Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; School of Medicine, The Ohio State University, Columbus, Ohio, United States of America.
Wendland M; Doctor of Physical Therapy Program, Cleveland State University, Cleveland, Ohio, United States of America.
Lowes LP; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Mar 19; Vol. 19 (3), pp. e0300244. Date of Electronic Publication: 2024 Mar 19 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/therapy
Spinal Muscular Atrophies of Childhood*/drug therapy
Child ; Humans ; Child, Preschool ; Prospective Studies ; Feasibility Studies ; Exercise ; Body Weight
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report
Autorzy:
Kokumai T; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan
Suzuki S; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan
Nishikawa N; Asahikawa Medical University, Department of Ophthalmology, Asahikawa, Japan
Yamamura H; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan
Mukai T; Japanese Red Cross Asahikawa Hospital, Department of Pediatrics, Asahikawa, Japan
Tanahashi Y; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan; Wakkanai City Hospital, Department of Pediatrics, Wakkanai, Japan
Takahashi S; Asahikawa Medical University, Department of Pediatrics, Asahikawa, Japan
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 102-105. Date of Electronic Publication: 2022 Aug 19.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Optic Atrophy*/genetics
Diabetes Mellitus, Type 1*/complications
Diabetes Mellitus, Type 1*/diagnosis
Diabetes Mellitus, Type 1*/genetics
Male ; Humans ; Child, Preschool ; Child ; Membrane Proteins/genetics ; Early Diagnosis ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A decentralized approach for the aerial manipulator robust trajectory tracking.
Autorzy:
Tlatelpa-Osorio YE; Sección de Mecatrónica, Deparatamento de Ingeniería Eléctrica del Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Ciudad de México, México.
Rodríguez-Cortés H; Sección de Mecatrónica, Deparatamento de Ingeniería Eléctrica del Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Ciudad de México, México.
Acosta JÁ; Departamento de Ingeniería de Sistemas y Automática, Universidad de Sevilla, Sevilla, Spain.
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Źródło:
PloS one [PLoS One] 2024 Mar 07; Vol. 19 (3), pp. e0299223. Date of Electronic Publication: 2024 Mar 07 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Mental Retardation, X-Linked*
Optic Atrophy*
Humans ; Wind
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Exploration of adverse events associated with risdiplam use: Retrospective cases from the US Food and Drug Administration Adverse Event Reporting System (FAERS) database.
Autorzy:
Yu L; College of Traditional Chinese Medicine of Chongqing Medical University, Chongqing, China.
Liu L; Pharmacy Department of Chongqing YouYou BaoBei Women's and Children's Hospital, Chongqing, China.
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Źródło:
PloS one [PLoS One] 2024 Mar 01; Vol. 19 (3), pp. e0298609. Date of Electronic Publication: 2024 Mar 01 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*
Drug-Related Side Effects and Adverse Reactions*/epidemiology
Pyrimidines*
United States/epidemiology ; Humans ; Retrospective Studies ; United States Food and Drug Administration ; Azo Compounds ; Databases, Factual ; Pharmacovigilance ; Adverse Drug Reaction Reporting Systems
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.
Autorzy:
Bardakov SN; Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia. .
Titova AA; Kazan (Volga Region) Federal University, 18 Kremlyevskaya str., Kazan, 420008, Russia.
Nikitin SS; Research Centre for Medical Genetics, 1 Moskvorechye str., Moscow, 115522, Russia.
Nikitins V; North-Western State Medical University named after I.I. Mechnikov, 47 Piskarevskij prospect, St. Petersburg, 191015, Russia.
Sokolova MO; Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia.
Tsargush VA; Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia.
Yuhno EA; FSBI All-Russian Center for Emergency and Radiation Medicine named after A.M. Nikiforov EMERCOM of Russia, 4/2 Lebedev str., St. Petersburg, 194044, Russia.
Vetrovoj OV; Pavlov Institute of Physiology, Russian Academy of Sciences, 6 Makarova emb, St. Petersburg, 199034, Russia.
Carlier PG; Neuromuscular Disease Reference Center, University of Liege, and Department of Neurology, St Luc University Hospital, Avenue Hippocrate 10, Brussels, 1200, Belgium.
Sofronova YV; Genetico, 3, Gubkina str., Bldg. 1, Moscow, 119333, Russia.
Isaev АА; Artgen Biotech PJSC, 3 Gubkina str., Moscow, 119333, Russia.
Deev RV; Avtsyn Research Institute of Human Morphology of Federal State Budgetary Scientific Institution 'Petrovsky National Research Centre of Surgery', 3 Tsyurupy str., Moscow, 117418, Russia.; Artgen Biotech PJSC, 3 Gubkina str., Moscow, 119333, Russia.
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Źródło:
BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Feb 16; Vol. 25 (1), pp. 146. Date of Electronic Publication: 2024 Feb 16.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/complications
Muscular Dystrophies, Limb-Girdle*/diagnostic imaging
Muscular Dystrophies, Limb-Girdle*/genetics
Distal Myopathies*
Contracture*/etiology
Contracture*/genetics
Muscular Atrophy*
Humans ; Adolescent ; Young Adult ; Adult ; Membrane Proteins/genetics ; Muscle Proteins/genetics ; Mutation
SCR Disease Name:
Dysferlinopathy; Miyoshi myopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice.
Autorzy:
Meijboom KE; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.; Gene Therapy Center, UMass Medical School, Worcester, USA.
Sutton ER; School of Medicine, Keele University, Staffordshire, UK.
McCallion E; School of Medicine, Keele University, Staffordshire, UK.
McFall E; Regenerative Medicine Program and Department of Cellular and Molecular Medicine, Ottawa Hospital Research Institute and University of Ottawa, Ottawa, Canada.
Anthony D; Department of Pharmacology, University of Oxford, Oxford, UK.
Edwards B; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Kubinski S; Center for Systems Neuroscience and Institute of Neuroanatomy and Cell Biology, Hannover Medical School, Hannover, Germany.
Tapken I; Center for Systems Neuroscience and Institute of Neuroanatomy and Cell Biology, Hannover Medical School, Hannover, Germany.; SMATHERIA - Non-Profit Biomedical Research Institute, Hannover, Germany.
Bünermann I; SMATHERIA - Non-Profit Biomedical Research Institute, Hannover, Germany.
Hazell G; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Ahlskog N; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK.
Claus P; Center for Systems Neuroscience and Institute of Neuroanatomy and Cell Biology, Hannover Medical School, Hannover, Germany.; SMATHERIA - Non-Profit Biomedical Research Institute, Hannover, Germany.
Davies KE; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Kothary R; Regenerative Medicine Program and Department of Cellular and Molecular Medicine, Ottawa Hospital Research Institute and University of Ottawa, Ottawa, Canada.
Wood MJA; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK.
Bowerman M; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK. .; School of Medicine, Keele University, Staffordshire, UK. .; Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, UK. .
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Źródło:
Skeletal muscle [Skelet Muscle] 2022 Jul 28; Vol. 12 (1), pp. 18. Date of Electronic Publication: 2022 Jul 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Receptors, Tumor Necrosis Factor*/genetics
Receptors, Tumor Necrosis Factor*/metabolism
Animals ; Cytokine TWEAK ; Disease Models, Animal ; Mice ; Muscle, Skeletal/metabolism ; Muscular Atrophy/metabolism ; RNA, Small Interfering/genetics ; TWEAK Receptor/genetics ; TWEAK Receptor/metabolism ; Transcription Factors/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Automated segmentation and feature discovery of age-related macular degeneration and Stargardt disease via self-attended neural networks.
Autorzy:
Wang Z; Doheny Eye Institute, 150 N Orange Grove Blvd, Pasadena, 91103, USA.; The University of California, Los Angeles, CA, 90095, USA.
Sadda SR; Doheny Eye Institute, 150 N Orange Grove Blvd, Pasadena, 91103, USA.; The University of California, Los Angeles, CA, 90095, USA.
Lee A; The University of Washington, Seattle, WA, 98195, USA.
Hu ZJ; Doheny Eye Institute, 150 N Orange Grove Blvd, Pasadena, 91103, USA. .
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Źródło:
Scientific reports [Sci Rep] 2022 Aug 26; Vol. 12 (1), pp. 14565. Date of Electronic Publication: 2022 Aug 26.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Geographic Atrophy*
Macular Degeneration*
Aged ; Atrophy ; Humans ; Neural Networks, Computer ; Stargardt Disease ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women.
Autorzy:
Zhang L; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Mo J; Shenzhen Center for Chronic Disease Control, Shenzhen, Guangdong, China.
Zhou L; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Xu X; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Xu Z; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Zhang L; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Wu W; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2359.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/epidemiology
Muscular Atrophy, Spinal*/genetics
Pregnancy ; Humans ; Female ; Prenatal Diagnosis/methods ; Exons ; Real-Time Polymerase Chain Reaction ; China
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study.
Autorzy:
Wang Z; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Feng E; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Jiao Y; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Zhao J; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Chen X; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Zhang H; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Liang J; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Li Z; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Cui X; Department of Anesthesiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Chen W; Department of Anesthesiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Shen J; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 29; Vol. 18 (1), pp. 369. Date of Electronic Publication: 2023 Nov 29.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/drug therapy
Muscular Atrophy, Spinal*/surgery
Spinal Muscular Atrophies of Childhood*
Humans ; Retrospective Studies ; Reproducibility of Results
Czasopismo naukowe
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Tytuł:
Altered m6A RNA methylation governs denervation-induced muscle atrophy by regulating ubiquitin proteasome pathway.
Autorzy:
Sun J; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.
Zhou H; Department of Neurosurgery, Binhai County People's Hospital, Yancheng, 224500, Jiangsu, People's Republic of China.
Chen Z; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.
Zhang H; Department of Clinical Medicine, Medical College, Nantong University, Nantong, 226001, China.
Cao Y; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.
Yao X; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.
Chen X; Department of Neurology, Affiliated Hospital of Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.
Liu B; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.
Gao Z; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China.
Shen Y; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China. .
Qi L; Department of Emergency Medicine, Affiliated Hospital of Nantong University, Nantong, 226001, Jiangsu, People's Republic of China. .
Sun H; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, NMPA Key Laboratory for Research and Evaluation of Tissue Engineering Technology Products, Nantong University, Nantong, 226001, Jiangsu, People's Republic of China. .
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Źródło:
Journal of translational medicine [J Transl Med] 2023 Nov 23; Vol. 21 (1), pp. 845. Date of Electronic Publication: 2023 Nov 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Proteasome Endopeptidase Complex*/metabolism
Muscular Atrophy*/genetics
Muscular Atrophy*/metabolism
Humans ; Methylation ; RNA/metabolism ; Denervation ; Ubiquitins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Longitudinal evolution of sleep disturbances in early multiple system atrophy: a 2-year prospective cohort study.
Autorzy:
Zhang L; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Health Management Center, General Practice Medical Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China.
Hou Y; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Li C; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Wei Q; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Ou R; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Liu K; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Lin J; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Yang T; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Xiao Y; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Jiang Q; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Zhao B; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
Shang H; Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China. .
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Źródło:
BMC medicine [BMC Med] 2023 Nov 22; Vol. 21 (1), pp. 454. Date of Electronic Publication: 2023 Nov 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Multiple System Atrophy*/complications
Multiple System Atrophy*/epidemiology
Multiple System Atrophy*/diagnosis
Parkinson Disease*/complications
Parkinson Disease*/epidemiology
Parkinson Disease*/diagnosis
REM Sleep Behavior Disorder*/complications
REM Sleep Behavior Disorder*/diagnosis
Disorders of Excessive Somnolence*
Sleep Wake Disorders*/epidemiology
Humans ; Prospective Studies ; Sleep
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series.
Autorzy:
Hammond CK; Department of Child Health, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
Oppong E; Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
Ameyaw E; Department of Child Health, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
Dogbe JA; Department of Child Health, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
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Źródło:
The Pan African medical journal [Pan Afr Med J] 2023 Nov 09; Vol. 46, pp. 78. Date of Electronic Publication: 2023 Nov 09 (Print Publication: 2023).
Typ publikacji:
Case Reports
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Spinal Muscular Atrophies of Childhood*/diagnosis
Spinal Muscular Atrophies of Childhood*/genetics
Spinal Muscular Atrophies of Childhood*/therapy
Child ; Infant, Newborn ; Female ; Humans ; Ghana ; Retrospective Studies ; Genetic Testing ; Molecular Biology
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy.
Autorzy:
Molotsky E; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Jefferson Alumni Hall, Rm. 411E, Philadelphia, PA, 19107, USA.
Liu Y; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Jefferson Alumni Hall, Rm. 411E, Philadelphia, PA, 19107, USA.
Lieberman AP; Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, USA.
Merry DE; Department of Biochemistry and Molecular Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Jefferson Alumni Hall, Rm. 411E, Philadelphia, PA, 19107, USA. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Jul 05; Vol. 10 (1), pp. 97. Date of Electronic Publication: 2022 Jul 05.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Bulbo-Spinal Atrophy, X-Linked*/metabolism
Bulbo-Spinal Atrophy, X-Linked*/pathology
Neurodegenerative Diseases*/pathology
Animals ; Mice ; Muscle, Skeletal/pathology ; Muscular Atrophy/metabolism ; Neuromuscular Junction/metabolism ; Pressure ; Tongue/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Bezafibrate attenuates immobilization-induced muscle atrophy in mice.
Autorzy:
Nakamura S; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Sato Y; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Kobayashi T; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Oya A; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Fujie A; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Matsumoto M; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Nakamura M; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Kanaji A; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan. .
Miyamoto T; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan. .; Department of Orthopedic Surgery, Kumamoto University, 1-1-1 Honjo, Chuo-Ku, Kumamoto, 860-8556, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2024 Jan 26; Vol. 14 (1), pp. 2240. Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:
Journal Article
MeSH Terms:
Bezafibrate*/pharmacology
Muscular Atrophy*/drug therapy
Muscular Atrophy*/etiology
Muscular Atrophy*/metabolism
Mice ; Animals ; Muscle, Skeletal/metabolism ; Muscle Fibers, Skeletal/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Spinal adhesive arachnoiditis in an adult patient with spinal muscular atrophy type 3 treated with intrathecal therapy.
Autorzy:
Ubysz J; Department of Neurology, Wroclaw Medical University, Borowska 213, Wroclaw, 50-556, Poland.
Koszewicz M; Department of Neurology, Wroclaw Medical University, Borowska 213, Wroclaw, 50-556, Poland. .
Bladowska J; Department of Preclinical Sciences, Pharmacology and Medical Diagnostics, Faculty of Medicine, Wroclaw University of Science and Technology, Wroclaw, Poland.; Department of Radiology, Wroclaw 4th Military Hospital, Wroclaw, Poland.
Budrewicz S; Department of Neurology, Wroclaw Medical University, Borowska 213, Wroclaw, 50-556, Poland.
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Źródło:
BMC neurology [BMC Neurol] 2024 Jan 24; Vol. 24 (1), pp. 43. Date of Electronic Publication: 2024 Jan 24.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Arachnoiditis*/complications
Arachnoiditis*/diagnostic imaging
Arachnoiditis*/drug therapy
Spinal Muscular Atrophies of Childhood*
Muscular Atrophy, Spinal*
Adult ; Female ; Humans ; Inflammation
SCR Disease Name:
Familial spinal arachnoiditis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 21-40 z 92238

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