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Wyszukujesz frazę ""Atrophy"" wg kryterium: Temat


Starter badań:

Tytuł:
Development of a deep learning model to distinguish the cause of optic disc atrophy using retinal fundus photography.
Autorzy:
Lee DK; Department of Ophthalmology, Institute of Vision Research, Severance Eye Hospital, Yonsei University College of Medicine, Yonsei-ro 50-1, Seodaemun-gu, Seoul, 03722, Republic of Korea.
Choi YJ; Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Yonsei-ro 50-1, Seodaemun-gu, Seoul, 03722, Republic of Korea.
Lee SJ; Department of Ophthalmology, Institute of Vision Research, Severance Eye Hospital, Yonsei University College of Medicine, Yonsei-ro 50-1, Seodaemun-gu, Seoul, 03722, Republic of Korea.
Kang HG; Department of Ophthalmology, Institute of Vision Research, Severance Eye Hospital, Yonsei University College of Medicine, Yonsei-ro 50-1, Seodaemun-gu, Seoul, 03722, Republic of Korea. .
Park YR; Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Yonsei-ro 50-1, Seodaemun-gu, Seoul, 03722, Republic of Korea. .
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Źródło:
Scientific reports [Sci Rep] 2024 Mar 01; Vol. 14 (1), pp. 5079. Date of Electronic Publication: 2024 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Optic Disk*/diagnostic imaging
Optic Disk*/pathology
Deep Learning*
Optic Atrophy, Hereditary, Leber*/pathology
Optic Neuritis*/pathology
Humans ; Retrospective Studies ; Photography ; Atrophy/pathology
Czasopismo naukowe
Tytuł:
Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.
Autorzy:
Sahli M; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco. .
Zrhidri A; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Faculty of Medicine and Pharmacy, Genomic Center of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco.
Boualaoui I; Department of Urology A, Ibn Sina Hospital, Mohammed V University, Rabat, Morocco.
Cherkaoui Jaouad I; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.
El Kadiri Y; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Faculty of Medicine and Pharmacy, Genomic Center of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco.
Nouini Y; Department of Urology A, Ibn Sina Hospital, Mohammed V University, Rabat, Morocco.
Sefiani A; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Faculty of Medicine and Pharmacy, Genomic Center of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2023 Sep 27; Vol. 17 (1), pp. 409. Date of Electronic Publication: 2023 Sep 27.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Wolfram Syndrome*/diagnosis
Wolfram Syndrome*/genetics
Optic Atrophy*/diagnosis
Optic Atrophy*/genetics
Diabetes Mellitus, Type 1*
Child, Preschool ; Male ; Child ; Humans ; Adult ; High-Throughput Nucleotide Sequencing ; Mutation ; Atrophy
Czasopismo naukowe
Tytuł:
Deep learning model for automatic differentiation of EMAP from AMD in macular atrophy.
Autorzy:
Chouraqui M; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, 40, Avenue de Verdun, 94100, Créteil, France.
Crincoli E; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, 40, Avenue de Verdun, 94100, Créteil, France.; Catholic University of 'Sacro Cuore', Rome, Italy.
Miere A; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, 40, Avenue de Verdun, 94100, Créteil, France. .
Meunier IA; National Reference Center for Inherited Sensory Diseases, University Hospital of Montpellier, University of Montpellier, Montpellier, France.; Sensgene Care Network, Strasbourg, France.; Institute for Neurosciences of Montpellier, Inserm, University of Montpellier, Montpellier, France.
Souied EH; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, 40, Avenue de Verdun, 94100, Créteil, France.
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Źródło:
Scientific reports [Sci Rep] 2023 Nov 21; Vol. 13 (1), pp. 20354. Date of Electronic Publication: 2023 Nov 21.
Typ publikacji:
Journal Article
MeSH Terms:
Deep Learning*
Geographic Atrophy*/diagnosis
Macular Degeneration*/diagnostic imaging
Humans ; Retrospective Studies ; Artificial Intelligence ; Fluorescein Angiography ; Fundus Oculi ; Atrophy
Czasopismo naukowe
Tytuł:
A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.
Autorzy:
Chen H; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Sun C; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Zheng Y; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Yin J; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Gao M; Department of Pathology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Zhao C; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Lin J; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China. .; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China. .; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China. .
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Źródło:
BMC neurology [BMC Neurol] 2023 Jun 30; Vol. 23 (1), pp. 250. Date of Electronic Publication: 2023 Jun 30.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Autoimmune Diseases*
Charcot-Marie-Tooth Disease*/genetics
Connective Tissue Diseases*
Muscular Atrophy, Spinal*/genetics
Humans ; Male ; Muscular Atrophy ; TRPV Cation Channels/genetics ; Middle Aged
SCR Disease Name:
Hereditary Motor And Sensory Neuropathy, Type IIC
Czasopismo naukowe
Tytuł:
Ventral Root Atrophy in Spine Magnetic Resonance Imaging in Spinal Muscular Atrophy: A New Biomarker?
Autorzy:
Gupta J; Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
Gupta R; Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
Tambi A; Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
Bhandari A; Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
Sharma JN; Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
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Źródło:
Neurology India [Neurol India] 2023 May-Jun; Vol. 71 (3), pp. 568-569.
Typ publikacji:
Letter
MeSH Terms:
Muscular Atrophy, Spinal*/diagnostic imaging
Muscular Atrophy, Spinal*/pathology
Humans ; Spinal Nerve Roots/pathology ; Magnetic Resonance Imaging/methods ; Atrophy/pathology ; Biomarkers
Opinia redakcyjna
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:
Delivering the diagnosis of multiple system atrophy: a multicenter survey on Japanese neurologists' perspectives.
Autorzy:
Yoshitake M; Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-Ku, Chiba, 260-8677, Japan.; Department of Neurology, Juntendo University Hospital, Tokyo, Japan.
Sugiyama A; Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-Ku, Chiba, 260-8677, Japan. .
Shimohata T; Department of Neurology, Gifu University Graduate School of Medicine, Gifu, Japan.
Araki N; Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-Ku, Chiba, 260-8677, Japan.; Department of Community-Oriented Medical Education, Chiba University Graduate School of Medicine, Chiba, Japan.
Suzuki M; Department of Neurology, Chiba Rosai Hospital, Chiba, Japan.
Shibuya K; Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-Ku, Chiba, 260-8677, Japan.
Nagashima K; Biostatistics Unit, Clinical and Translational Research Center, Keio University Hospital, Tokyo, Japan.
Hattori N; Department of Neurology, Juntendo University Hospital, Tokyo, Japan.
Kuwabara S; Department of Neurology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-Ku, Chiba, 260-8677, Japan.
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Źródło:
BMC neurology [BMC Neurol] 2024 May 13; Vol. 24 (1), pp. 160. Date of Electronic Publication: 2024 May 13.
Typ publikacji:
Journal Article; Multicenter Study
MeSH Terms:
Multiple System Atrophy*/diagnosis
Multiple System Atrophy*/epidemiology
Neurologists*/statistics & numerical data
Neurologists*/psychology
Humans ; Japan/epidemiology ; Male ; Female ; Middle Aged ; Surveys and Questionnaires ; Attitude of Health Personnel ; Adult ; Death, Sudden/epidemiology ; East Asian People
Czasopismo naukowe
Tytuł:
Comparison of Muscle Regeneration Effects at Different Melittin Concentrations in Rabbit Atrophied Muscle.
Autorzy:
Jang BC; Department of Molecular Medicine, College of Medicine, Keimyung University, Daegu 42601, Republic of Korea.
Kwon ES; Department of Medicine, College of Medicine, Keimyung University, Daegu 42601, Republic of Korea.
Lee YJ; Department of Biochemistry, College of Medicine, Soonchunhyang University, Cheonan 31151, Republic of Korea.
Jung JI; Department of Rehabilitation Medicine, Catholic University of Daegu School of Medicine, Daegu 42472, Republic of Korea.
Moon YS; Department of Anatomy, Catholic University of Daegu School of Medicine, Daegu 42472, Republic of Korea.
Kwon DR; Department of Rehabilitation Medicine, Catholic University of Daegu School of Medicine, Daegu 42472, Republic of Korea.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 May 05; Vol. 25 (9). Date of Electronic Publication: 2024 May 05.
Typ publikacji:
Journal Article; Comparative Study
MeSH Terms:
Melitten*/pharmacology
Muscle, Skeletal*/drug effects
Muscle, Skeletal*/metabolism
Muscle, Skeletal*/pathology
Regeneration*/drug effects
Muscular Atrophy*/drug therapy
Muscular Atrophy*/metabolism
Muscular Atrophy*/etiology
Muscular Atrophy*/pathology
Animals ; Rabbits ; Male
Czasopismo naukowe
Tytuł:
Systemic LPS Administration Stimulates the Activation of Non-Neuronal Cells in an Experimental Model of Spinal Muscular Atrophy.
Autorzy:
Karafoulidou E; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Kesidou E; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Theotokis P; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Konstantinou C; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Nella MK; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Michailidou I; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Touloumi O; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Polyzoidou E; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Salamotas I; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Einstein O; Department of Physical Therapy, Faculty of Health Sciences, Ariel University, Ariel 40700, Israel.
Chatzisotiriou A; Department of Physiology, Medical School, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Boziki MK; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
Grigoriadis N; Laboratory of Experimental Neurology and Neuroimmunology, 2nd Neurological University Department, AHEPA General Hospital of Thessaloniki, Faculty of Health Science, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.
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Źródło:
Cells [Cells] 2024 May 04; Vol. 13 (9). Date of Electronic Publication: 2024 May 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Lipopolysaccharides*/pharmacology
Muscular Atrophy, Spinal*/pathology
Muscular Atrophy, Spinal*/metabolism
Disease Models, Animal*
Animals ; Mice ; Muscle, Skeletal/drug effects ; Muscle, Skeletal/pathology ; Muscle, Skeletal/metabolism ; Microglia/metabolism ; Microglia/drug effects ; Microglia/pathology ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 1 Protein/genetics ; Mice, Inbred C57BL ; Astrocytes/metabolism ; Astrocytes/drug effects ; Astrocytes/pathology ; Inflammation/pathology
Czasopismo naukowe
Tytuł:
Targeting Molecular Mechanisms of Obesity- and Type 2 Diabetes Mellitus-Induced Skeletal Muscle Atrophy with Nerve Growth Factor.
Autorzy:
Jun L; Department of Nutritional Sciences, Auburn University, Auburn, AL 36849, USA.
Ding XW; Department of Nutritional Sciences, Auburn University, Auburn, AL 36849, USA.
Robinson M; Department of Nutritional Sciences, Auburn University, Auburn, AL 36849, USA.
Jafari H; Department of Nutritional Sciences, Auburn University, Auburn, AL 36849, USA.
Knight E; Department of Nutritional Sciences, Auburn University, Auburn, AL 36849, USA.
Geetha T; Department of Nutritional Sciences, Auburn University, Auburn, AL 36849, USA.; Boshell Metabolic Diseases and Diabetes Program, Auburn University, Auburn, AL 36849, USA.
Greene MW; Department of Nutritional Sciences, Auburn University, Auburn, AL 36849, USA.; Boshell Metabolic Diseases and Diabetes Program, Auburn University, Auburn, AL 36849, USA.
Babu JR; Department of Nutritional Sciences, Auburn University, Auburn, AL 36849, USA.; Boshell Metabolic Diseases and Diabetes Program, Auburn University, Auburn, AL 36849, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Apr 13; Vol. 25 (8). Date of Electronic Publication: 2024 Apr 13.
Typ publikacji:
Journal Article
MeSH Terms:
Diabetes Mellitus, Experimental*/metabolism
Diabetes Mellitus, Experimental*/pathology
Diabetes Mellitus, Experimental*/complications
Diabetes Mellitus, Type 2*/metabolism
Diabetes Mellitus, Type 2*/complications
Diabetes Mellitus, Type 2*/pathology
Muscle, Skeletal*/metabolism
Muscle, Skeletal*/pathology
Muscle, Skeletal*/drug effects
Muscular Atrophy*/metabolism
Muscular Atrophy*/etiology
Muscular Atrophy*/pathology
Nerve Growth Factor*/metabolism
Obesity*/metabolism
Obesity*/complications
Obesity*/pathology
Animals ; Male ; Mice ; Autophagy/drug effects ; Diet, Western ; Mice, Inbred C57BL ; Myostatin/metabolism
Czasopismo naukowe
Tytuł:
Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR.
Autorzy:
Yao M; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.; Department of Infectious Diseases, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Jiang L; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Yu Y; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Cui Y; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Chen Y; Xiamen Biofast Biotechnology Co., Ltd., Xiamen, China.
Zhou D; Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gao F; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Mao S; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China. .
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Źródło:
BMC neurology [BMC Neurol] 2024 Mar 11; Vol. 24 (1), pp. 93. Date of Electronic Publication: 2024 Mar 11.
Typ publikacji:
Journal Article
MeSH Terms:
Multiplex Polymerase Chain Reaction*
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Humans ; DNA Copy Number Variations/genetics ; Workflow ; Motor Neurons ; Exons/genetics ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł:
Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen.
Autorzy:
Šimić G; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Vukić V; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
Babić M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Banović M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Berečić I; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Španić E; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Zubčić K; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Golubić AT; Department of Nuclear Medicine and Radiation Protection, University Hospital Centre Zagreb, Zagreb, Croatia.
Barišić Kutija M; Department of Ophthalmology, University Hospital Centre Zagreb, Zagreb, Croatia.
Merkler Šorgić A; Department of Laboratory Diagnostics, Laboratory for Molecular Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.
Vogrinc Ž; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.
Lehman I; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
Hof PR; Nash Family Department of Neuroscience, Friedman Brain Institute, and Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Sertić J; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.; Department of Medical Chemistry and Biochemistry, University of Zagreb School of Medicine, Zagreb, Croatia.
Barišić N; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
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Źródło:
CNS neuroscience & therapeutics [CNS Neurosci Ther] 2024 Mar; Vol. 30 (3), pp. e14051. Date of Electronic Publication: 2022 Dec 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Spinal Muscular Atrophies of Childhood*/drug therapy
Spinal Muscular Atrophies of Childhood*/cerebrospinal fluid
Muscular Atrophy, Spinal*/cerebrospinal fluid
Muscular Atrophy, Spinal*/drug therapy
Humans ; Child ; Oligonucleotides/therapeutic use ; Biomarkers/cerebrospinal fluid
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:
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:
Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.
Autorzy:
Gagliardi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Canzio E; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Orsini P; Medical Genetic Unit, Department of Reproductive Pregnancy Risk, ASL BARI, Bari, Italy.
Conti P; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Sinisi V; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Maggiore C; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Santarsia MC; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Lagioia G; U.O.C. Medicina Fisica e Riabilitazione, A.O.U. Consorziale Policlinico di Bari, Bari, Italy.
Lupis G; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Roppa I; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Scianatico G; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Mancini D; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Corti S; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Gentile M; Medical Genetic Unit, Department of Reproductive Pregnancy Risk, ASL BARI, Bari, Italy.
Gagliardi D; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 May; Vol. 11 (5), pp. 1090-1096. Date of Electronic Publication: 2024 Apr 10.
Typ publikacji:
Journal Article
MeSH Terms:
Neonatal Screening*
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Survival of Motor Neuron 1 Protein*/genetics
Humans ; Italy ; Infant, Newborn ; Female ; Male ; Survival of Motor Neuron 2 Protein/genetics ; Oligonucleotides/administration & dosage ; Oligonucleotides/pharmacology ; Infant
Czasopismo naukowe
Tytuł:
Alzheimer's and neurodegenerative disease biomarkers in blood predict brain atrophy and cognitive decline.
Autorzy:
Dark HE; Laboratory of Behavioral Neuroscience, National Institute On Aging, NIH BRC BG RM 04B311, 251 Bayview Blvd, Baltimore, MD, 21224, USA. .
An Y; Laboratory of Behavioral Neuroscience, National Institute On Aging, NIH BRC BG RM 04B311, 251 Bayview Blvd, Baltimore, MD, 21224, USA.
Duggan MR; Laboratory of Behavioral Neuroscience, National Institute On Aging, NIH BRC BG RM 04B311, 251 Bayview Blvd, Baltimore, MD, 21224, USA.
Joynes C; Laboratory of Behavioral Neuroscience, National Institute On Aging, NIH BRC BG RM 04B311, 251 Bayview Blvd, Baltimore, MD, 21224, USA.
Davatzikos C; Department of Radiology, University of Pennsylvania, Philadelphia, PA, USA.
Erus G; Department of Radiology, University of Pennsylvania, Philadelphia, PA, USA.
Lewis A; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Moghekar AR; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Resnick SM; Laboratory of Behavioral Neuroscience, National Institute On Aging, NIH BRC BG RM 04B311, 251 Bayview Blvd, Baltimore, MD, 21224, USA.
Walker KA; Laboratory of Behavioral Neuroscience, National Institute On Aging, NIH BRC BG RM 04B311, 251 Bayview Blvd, Baltimore, MD, 21224, USA. .
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Źródło:
Alzheimer's research & therapy [Alzheimers Res Ther] 2024 Apr 30; Vol. 16 (1), pp. 94. Date of Electronic Publication: 2024 Apr 30.
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural
MeSH Terms:
Biomarkers*/blood
Atrophy*/pathology
Brain*/pathology
Brain*/diagnostic imaging
Alzheimer Disease*/blood
Alzheimer Disease*/pathology
Alzheimer Disease*/diagnostic imaging
Amyloid beta-Peptides*/blood
Cognitive Dysfunction*/blood
Cognitive Dysfunction*/pathology
tau Proteins*/blood
tau Proteins*/cerebrospinal fluid
Humans ; Female ; Male ; Aged ; Longitudinal Studies ; Glial Fibrillary Acidic Protein/blood ; Middle Aged ; Aged, 80 and over ; Neurofilament Proteins/blood ; Neurodegenerative Diseases/blood ; Neurodegenerative Diseases/diagnostic imaging ; Neurodegenerative Diseases/pathology ; Neuropsychological Tests ; Magnetic Resonance Imaging ; Peptide Fragments/blood
Czasopismo naukowe
Tytuł:
Dysregulation of innate immune signaling in animal models of spinal muscular atrophy.
Autorzy:
Garcia EL; Integrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.; Department of Biology, University of Kentucky, Lexington, KY, USA.
Steiner RE; Integrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.; RNA Discovery and Lineberger Comprehensive Cancer Centers, University of North Carolina at Chapel Hill, Chapel Hill, 27599, USA.; Present Address: Lake, Erie College of Osteopathic Medicine, Bradenton, FL, USA.
Raimer AC; Integrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.; Curriculum in Genetics and Molecular Biology, University of North Carolina at Chapel Hill, Chapel Hill, 27599, USA.; Present Address, Radford University, Radford, VA, USA.
Herring LE; Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, USA.
Matera AG; Integrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. .; Curriculum in Genetics and Molecular Biology, University of North Carolina at Chapel Hill, Chapel Hill, 27599, USA. .; Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, 27599, USA. .; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, 27599, USA. .; RNA Discovery and Lineberger Comprehensive Cancer Centers, University of North Carolina at Chapel Hill, Chapel Hill, 27599, USA. .
Spring AM; Integrative Program for Biological and Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. .; Department of Biology, University of North Carolina at Greensboro, Greensboro, NC, 27402, USA. .
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Źródło:
BMC biology [BMC Biol] 2024 Apr 25; Vol. 22 (1), pp. 94. Date of Electronic Publication: 2024 Apr 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/immunology
Immunity, Innate*
Disease Models, Animal*
Signal Transduction*
Animals ; Drosophila melanogaster/immunology ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism
Czasopismo naukowe
Tytuł:
Profound hypoxemia and hypotension during posterior spinal fusion in a spinal muscular atrophy child with severe scoliosis: a case report.
Autorzy:
Shu Q; Department of Anesthesiology, Peking Union Medical College Hospital, Beijing, China.
Dong Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Beijing, China.
Chen W; Department of Anesthesiology, Peking Union Medical College Hospital, Beijing, China. .
Shen J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Beijing, China.
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Źródło:
BMC anesthesiology [BMC Anesthesiol] 2024 Apr 18; Vol. 24 (1), pp. 148. Date of Electronic Publication: 2024 Apr 18.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hypotension*/etiology
Muscular Atrophy, Spinal*/complications
Scoliosis*/surgery
Spinal Fusion*/adverse effects
Spinal Fusion*/methods
Female ; Humans ; Hypoxia/complications ; Retrospective Studies ; Treatment Outcome ; Adolescent
Czasopismo naukowe

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