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Wyszukujesz frazę ""Atrophy"" wg kryterium: Temat


Starter badań:

Tytuł:
The influence of the topographic location of geographic atrophy on vision-related quality of life in nonexudative age-related macular degeneration.
Autorzy:
Ahluwalia A; Department of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, USA.
Shen LL; Department of Ophthalmology, University of California San Francisco School of Medicine, San Francisco, CA, USA.
Bao Y; Department of Statistics and Data Science, Yale University, New Haven, CT, USA.
Sun M; Institute of Cardiovascular Diseases, Gladstone Institute, San Francisco, CA, USA.
Young BK; Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, MI, USA.
Park MM; Department of Ophthalmology, New York Eye and Ear Infirmary of Mount Sinai, New York, NY, USA.
Del Priore LV; Department of Ophthalmology and Visual Science, Yale School of Medicine, 40 Temple Street, Suite 1B, New Haven, CT, USA. .
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Źródło:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2023 Mar; Vol. 261 (3), pp. 699-708. Date of Electronic Publication: 2022 Oct 21.
Typ publikacji:
Journal Article
MeSH Terms:
Geographic Atrophy*/diagnosis
Diabetic Retinopathy*
Humans ; Quality of Life ; Visual Acuity ; Vision, Ocular ; Atrophy ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł:
Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
Autorzy:
Floriani F; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.
Borri Voltattorni C; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.
Cellini B; Department of Medicine and Surgery, University of Perugia, 06123 Perugia, Italy.
Montioli R; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37134 Verona, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 08; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 08.
Typ publikacji:
Journal Article
MeSH Terms:
Gyrate Atrophy*/genetics
Ornithine-Oxo-Acid Transaminase*/metabolism
Humans ; Atrophy/pathology ; Choroid/metabolism ; Mutation ; Ornithine ; Pyridoxal Phosphate ; Retina/metabolism
Czasopismo naukowe
Tytuł:
Alzheimer's disease pathology concomitant with memory impairment in late-onset multiple system atrophy.
Autorzy:
Miki Y; Department of Neuropathology, Institute of Brain Science, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.
Bettencourt C; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Jaunmuktane Z; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.
Holton JL; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.
Warner TT; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.; Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK.
Wakabayashi K; Department of Neuropathology, Institute of Brain Science, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
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Źródło:
Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2023 Feb; Vol. 49 (1), pp. e12878.
Typ publikacji:
Letter
MeSH Terms:
Alzheimer Disease*/complications
Alzheimer Disease*/pathology
Multiple System Atrophy*/complications
Lewy Body Disease*/pathology
Humans ; tau Proteins ; Atrophy ; Magnetic Resonance Imaging
Opinia redakcyjna
Tytuł:
Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy.
Autorzy:
Kobayashi Y; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan. Electronic address: .
Ishikawa N; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
Tateishi Y; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
Izumo H; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
Eto S; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
Eguchi Y; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
Okada S; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
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Źródło:
Brain & development [Brain Dev] 2023 Jan; Vol. 45 (1), pp. 2-7. Date of Electronic Publication: 2022 Oct 07.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/drug therapy
Spinal Muscular Atrophies of Childhood*/diagnosis
Spinal Muscular Atrophies of Childhood*/drug therapy
Child ; Humans ; Biomarkers/cerebrospinal fluid ; Interferon-gamma ; Muscular Atrophy ; Cytokines
Czasopismo naukowe
Tytuł:
A laser-induced mouse model of progressive retinal degeneration with central sparing displays features of parafoveal geographic atrophy.
Autorzy:
Khan AH; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.; Southampton Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Soundara Pandi SP; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Scott JA; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Sánchez-Bretaño A; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Lynn SA; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
Ratnayaka JA; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK. .
Teeling JL; Biological Sciences, Faculty of Environmental and Life Sciences, University of Southampton, Southampton, UK. .
Lotery AJ; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK. .; Southampton Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK. .
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Źródło:
Scientific reports [Sci Rep] 2023 Mar 14; Vol. 13 (1), pp. 4194. Date of Electronic Publication: 2023 Mar 14.
Typ publikacji:
Journal Article
MeSH Terms:
Geographic Atrophy*/pathology
Retinal Degeneration*/etiology
Retinal Degeneration*/pathology
Animals ; Mice ; Fluorescein Angiography/methods ; Retina/diagnostic imaging ; Retina/pathology ; Tomography, Optical Coherence/methods ; Lasers ; Disease Models, Animal ; Atrophy/pathology ; Retinal Pigment Epithelium/pathology
Czasopismo naukowe
Tytuł:
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.
Autorzy:
Mei Y; Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University School of Medicine, 200233, Shanghai, China.
Jiang Y; Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University School of Medicine, 200233, Shanghai, China.
Zhang Z; Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University School of Medicine, 200233, Shanghai, China. .
Zhang H; Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University School of Medicine, 200233, Shanghai, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Mar 07; Vol. 16 (1), pp. 47. Date of Electronic Publication: 2023 Mar 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cytoplasmic Dyneins*/genetics
Muscular Atrophy, Spinal*/genetics
Humans ; Amino Acids ; Atrophy ; East Asian People ; Lower Extremity ; Muscles ; Mutation, Missense
Czasopismo naukowe
Tytuł:
Exploring the mechanism of astragalus membranaceus in the treatment of multiple system atrophy based on network pharmacology and molecular docking.
Autorzy:
Yang N; Shandong University of Traditional Chinese Medicine, Jinan, China.
Qi X; Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, China.
Hu J; Shandong Public Health Clinical Center, Jinan, China.
Teng J; Shandong University of Traditional Chinese Medicine, Jinan, China.
Wang Y; Shandong University of Traditional Chinese Medicine, Jinan, China.
Li C; Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, China.
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Źródło:
Medicine [Medicine (Baltimore)] 2023 Feb 03; Vol. 102 (5), pp. e32523.
Typ publikacji:
Journal Article
MeSH Terms:
Multiple System Atrophy*
Drugs, Chinese Herbal*
Humans ; Molecular Docking Simulation ; Network Pharmacology ; Astragalus propinquus ; Protein Interaction Maps ; Medicine, Chinese Traditional ; Muscular Atrophy
Czasopismo naukowe
Tytuł:
Quantitative multimodal imaging of extensive macular atrophy with pseudodrusen and geographic atrophy with diffuse trickling pattern.
Autorzy:
Antropoli A; IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina 60, 20132, Milan, Italy.
Arrigo A; IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina 60, 20132, Milan, Italy. .
Bianco L; IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina 60, 20132, Milan, Italy.
Berni A; IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina 60, 20132, Milan, Italy.
Lamberto F; IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina 60, 20132, Milan, Italy.
Saladino A; IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina 60, 20132, Milan, Italy.
Bandello F; IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina 60, 20132, Milan, Italy.
Battaglia Parodi M; IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Via Olgettina 60, 20132, Milan, Italy.
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Źródło:
Scientific reports [Sci Rep] 2023 Feb 01; Vol. 13 (1), pp. 1822. Date of Electronic Publication: 2023 Feb 01.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Geographic Atrophy*/diagnostic imaging
Macular Degeneration*/diagnostic imaging
Humans ; Prospective Studies ; Fluorescein Angiography/methods ; Disease Progression ; Tomography, Optical Coherence/methods ; Atrophy ; Multimodal Imaging ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy.
Autorzy:
Khani M; School of Biology, College of Science, University of Tehran, Tehran, Iran.; Iranian Neuromusclar Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Nafissi S; Iranian Neuromusclar Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
Shamshiri H; Iranian Neuromusclar Research Center, Tehran University of Medical Sciences, Tehran, Iran.; Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
Moazzeni H; School of Biology, College of Science, University of Tehran, Tehran, Iran.
Taheri H; School of Biology, College of Science, University of Tehran, Tehran, Iran.
Sadeghi M; National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
Salehi N; School of Biological Science, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
Chitsazian F; Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran.
Elahi E; School of Biology, College of Science, University of Tehran, Tehran, Iran.; Iranian Neuromusclar Research Center, Tehran University of Medical Sciences, Tehran, Iran.
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Źródło:
European journal of neurology [Eur J Neurol] 2022 Dec; Vol. 29 (12), pp. 3556-3563. Date of Electronic Publication: 2022 Sep 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Arthrogryposis*/complications
Bulbo-Spinal Atrophy, X-Linked*/genetics
Motor Neuron Disease*/complications
Muscular Atrophy, Spinal*/genetics
Ubiquitin-Activating Enzymes*/genetics
Humans ; Muscular Atrophy/complications ; Receptors, Androgen/genetics ; Ubiquitins
Czasopismo naukowe
Tytuł:
Spinal Irisin Gene Delivery Attenuates Burn Injury-Induced Muscle Atrophy by Promoting Axonal Myelination and Innervation of Neuromuscular Junctions.
Autorzy:
Wu SH; Department of Anesthesiology, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung 801, Taiwan.; Department of Anesthesiology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Department of Anesthesiology, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.
Lu IC; Department of Anesthesiology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Department of Anesthesiology, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.; Department of Anesthesiology, Kaohsiung Municipal Siaogang Hospital, Kaohsiung 812, Taiwan.
Yang SM; Institute of Biomedical Sciences, National Sun Yat-Sun University, Kaohsiung 804, Taiwan.
Hsieh CF; Department of Anesthesiology, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung 801, Taiwan.
Chai CY; Institute of Biomedical Sciences, National Sun Yat-Sun University, Kaohsiung 804, Taiwan.; Department of Pathology, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Department of Pathology, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.
Tai MH; Institute of Biomedical Sciences, National Sun Yat-Sun University, Kaohsiung 804, Taiwan.
Huang SH; Department of Surgery, Division of Plastic Surgery, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.; Department of Surgery, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Regeneration Medicine and Cell Therapy Research Center, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Department of Surgery, Division of Plastic Surgery, Kaohsiung Municipal Siaogang Hospital, Kaohsiung 812, Taiwan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Dec 14; Vol. 23 (24). Date of Electronic Publication: 2022 Dec 14.
Typ publikacji:
Journal Article
MeSH Terms:
Burns*/complications
Burns*/therapy
Burns*/pathology
Muscular Atrophy, Spinal*/pathology
Peripheral Nerve Injuries*/pathology
Sciatic Neuropathy*/pathology
Axons/metabolism ; Fibronectins/genetics ; Muscle, Skeletal/metabolism ; Muscular Atrophy/genetics ; Muscular Atrophy/prevention & control ; Neuromuscular Junction/metabolism ; Animals
Czasopismo naukowe
Tytuł:
François-Amilcar Aran (1817-1861) and the recognition of spinal muscular atrophy.
Autorzy:
Walusinski O; Lauréat de l'Académie nationale de médecine, 20, rue de Chartres, 28160 Brou, France. Electronic address: .
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Źródło:
Revue neurologique [Rev Neurol (Paris)] 2022 Oct; Vol. 178 (8), pp. 756-765. Date of Electronic Publication: 2022 May 02.
Typ publikacji:
Historical Article; Journal Article; Review
MeSH Terms:
Muscular Atrophy, Spinal*
Nervous System Diseases*
Neurology*/history
Eponyms ; France ; History, 19th Century ; Humans ; Male ; Muscular Atrophy
Czasopismo naukowe
Tytuł:
Generation of FOUR iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from Spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype.
Autorzy:
Devito LG; Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: .
Cooper F; Centre for Stem Cell Biology, School of Bioscience, The University of Sheffield, Western Bank, Sheffield S10 2TN, UK; Neuroscience Institute, The University of Sheffield, Western Bank, Sheffield S10 2TN, UK.
D'Angelo I; Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK.
Smith J; Developmental Biology Laboratory, The Francis Crick Institute, London, UK.
Healy L; Human Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: .
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Źródło:
Stem cell research [Stem Cell Res] 2022 Dec; Vol. 65, pp. 102954. Date of Electronic Publication: 2022 Oct 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Induced Pluripotent Stem Cells*
Muscular Atrophy, Spinal*/genetics
Humans ; Muscular Atrophy
Czasopismo naukowe
Tytuł:
Beta zone parapapillary atrophy in elderly Chinese.
Autorzy:
Zhou LX; Department of Ophthalmology, The First Affiliated Hospital of Xi'an Medical University, Xi'an, Shaanxi, China.
Shao L; Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, 1 Dong Jiao Min Xiang, Dong Cheng District, Beijing, 100730, China.
Da Zhou W; Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, 1 Dong Jiao Min Xiang, Dong Cheng District, Beijing, 100730, China.
Xu L; Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Li R; Department of Ophthalmology, The First Affiliated Hospital of Xi'an Medical University, Xi'an, Shaanxi, China.
Wei WB; Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, 1 Dong Jiao Min Xiang, Dong Cheng District, Beijing, 100730, China. .
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Źródło:
BMC ophthalmology [BMC Ophthalmol] 2022 Nov 11; Vol. 22 (1), pp. 431. Date of Electronic Publication: 2022 Nov 11.
Typ publikacji:
Journal Article
MeSH Terms:
Cardiovascular Diseases*
Myopia*/epidemiology
Myopia*/pathology
Macular Degeneration*/pathology
Optic Atrophy*/epidemiology
Humans ; Male ; Aged ; Middle Aged ; Axial Length, Eye/pathology ; Tomography, Optical Coherence ; Cross-Sectional Studies ; Atrophy/pathology ; Beijing/epidemiology
Czasopismo naukowe
Tytuł:
Comparison of Multimodal Imaging for the Characterization of Geographic Atrophy.
Autorzy:
Crincoli E; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Creteil Cedex, France.; Ophthalmology Unit, 'Fondazione Policlinico Universitario A. Gemelli IRCCS,' Rome, Italy.; Catholic University of 'Sacro Cuore,' Rome, Italy.
De Rosa I; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Creteil Cedex, France.
Miere A; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Creteil Cedex, France.
Colantuono D; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Creteil Cedex, France.
Mehanna CJ; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Creteil Cedex, France.
Souied EH; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Creteil Cedex, France.
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Źródło:
Translational vision science & technology [Transl Vis Sci Technol] 2022 Nov 01; Vol. 11 (11), pp. 21.
Typ publikacji:
Journal Article
MeSH Terms:
Geographic Atrophy*/diagnostic imaging
Humans ; Fovea Centralis/diagnostic imaging ; Optical Imaging ; Retinal Pigments ; Atrophy ; Margins of Excision ; Multimodal Imaging
Czasopismo naukowe
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
Tytuł:
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.
Autorzy:
Yamamoto K; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan; Department of Pediatrics, Gifu Prefectural Tajimi Hospital, Gifu, Japan.
Ohashi K; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Fujimoto M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Ieda D; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Hattori A; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. Electronic address: .
Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
Ieda K; Department of Pediatrics, Tosei General Hospital, Aichi, Japan.
Nishino I; Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo, Japan.
Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
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Źródło:
Brain & development [Brain Dev] 2022 Sep; Vol. 44 (8), pp. 578-582. Date of Electronic Publication: 2022 May 06.
Typ publikacji:
Case Reports
MeSH Terms:
Arthrogryposis*/genetics
Contracture*
Muscular Atrophy, Spinal*/genetics
Spinal Muscular Atrophies of Childhood*
Adolescent ; Adult ; Female ; Follow-Up Studies ; Humans ; Infant, Newborn ; Lower Extremity ; Microtubule-Associated Proteins/genetics ; Muscular Atrophy ; Mutation ; Young Adult
SCR Disease Name:
Multiple Pterygium Syndrome, Autosomal Dominant
Raport
Tytuł:
Accuracy of muscle fasciculations for the diagnosis of later-onset spinal muscle atrophy.
Autorzy:
Dos Santos MAR; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Brighente SF; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Massignan A; Radiology Departament, Hospital Moinhos de Vento, Porto Alegre, Brazil.
Tenório RB; Hospital Pequeno Príncipe, Curitiba, Brazil; Graduate Program in Medicine: Internal Medicine, Universidade Federal do Paraná, Curitiba, Brazil.
Makariewicz LL; Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Moreira AL; Department of Neurosurgery (Peripheral Nerve Surgery Unit), University of São Paulo - USP, São Paulo, Brazil.
Saute JA; Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; Neurology Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Sep; Vol. 32 (9), pp. 763-768. Date of Electronic Publication: 2022 Jul 14.
Typ publikacji:
Journal Article
MeSH Terms:
Fasciculation*/diagnosis
Muscular Atrophy, Spinal*/diagnosis
Adolescent ; Adult ; Cross-Sectional Studies ; Humans ; Muscle Weakness ; Muscles ; Muscular Atrophy ; Reproducibility of Results
Czasopismo naukowe
Tytuł:
Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy.
Autorzy:
Ogura Y; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Sahashi K; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan. .
Hirunagi T; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Iida M; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Miyata T; Department of Anatomy and Cell Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Katsuno M; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan. .; Department of Clinical Research Education, Nagoya University Graduate School of Medicine, Nagoya, Japan. .
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Źródło:
Cell death & disease [Cell Death Dis] 2022 Jul 13; Vol. 13 (7), pp. 601. Date of Electronic Publication: 2022 Jul 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Androgens*/metabolism
Androgens*/pharmacology
Bulbo-Spinal Atrophy, X-Linked*/metabolism
Bulbo-Spinal Atrophy, X-Linked*/pathology
Neurodegenerative Diseases*/metabolism
Ubiquitin-Protein Ligases*/metabolism
Animals ; Mice ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Muscular Atrophy/metabolism
Czasopismo naukowe
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
Tytuł:
Clinical diagnosis sensitivity of neuropathologically established multiple system atrophy in Japan.
Autorzy:
Ando T; Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan. .; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan. .
Riku Y; Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Akagi A; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Miyahara H; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Sone J; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Katsuno M; Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.; Department of Clinical Research Education, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.
Yoshida M; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Iwasaki Y; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
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Źródło:
Journal of neurology [J Neurol] 2022 Sep; Vol. 269 (9), pp. 5162-5164. Date of Electronic Publication: 2022 Apr 11.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't; Comment
MeSH Terms:
Multiple System Atrophy*/diagnosis
Atrophy ; Humans ; Japan
Raport

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