Temat: "Atrophy" - OpacWWW

Skocz do pozycji: 1.

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. .; Pokaż więcej
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

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Skocz do pozycji: 2.

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.; Pokaż więcej
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

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Skocz do pozycji: 3.

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.; Pokaż więcej
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

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Skocz do pozycji: 4.

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.; Pokaż więcej
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

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Skocz do pozycji: 5.

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. .; Pokaż więcej
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

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Skocz do pozycji: 6.

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.; Pokaż więcej
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

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Skocz do pozycji: 7.

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.; Pokaż więcej
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

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Skocz do pozycji: 8.

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. .; Pokaż więcej
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

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Skocz do pozycji: 9.

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. .; Pokaż więcej
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

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Skocz do pozycji: 10.

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.; Pokaż więcej
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

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Skocz do pozycji: 11.

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. .; Pokaż więcej
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

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Skocz do pozycji: 12.

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.; Pokaż więcej
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

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Skocz do pozycji: 13.

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.; Pokaż więcej
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

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Skocz do pozycji: 14.

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.; Pokaż więcej
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

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Skocz do pozycji: 15.

Tytuł:: Whole-brain dopamine transporter binding pattern predicts survival in multiple system atrophy.
Autorzy:: Kang YK; Department of Nuclear Medicine, Seoul National University Hospital, 101, Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.; Department of Nuclear Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Shin JH; Department of Neurology, Seoul National University Hospital, 101, Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.; Department of Neurology, Seoul National University College of Medicine, Seoul, Republic of Korea.
Choi H; Department of Nuclear Medicine, Seoul National University Hospital, 101, Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea. .; Department of Nuclear Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea. .
Kim HJ; Department of Neurology, Seoul National University Hospital, 101, Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea. .; Department of Neurology, Seoul National University College of Medicine, Seoul, Republic of Korea. .
Cheon GJ; Department of Nuclear Medicine, Seoul National University Hospital, 101, Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.; Department of Nuclear Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul National University, Seoul, Republic of Korea.; Institute on Aging, Seoul National University, Seoul, Republic of Korea.; Cancer Research Institute, Seoul National University, Seoul, Republic of Korea.; Institute of Radiation Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Jeon B; Department of Neurology, Seoul National University Hospital, 101, Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.; Department of Neurology, Seoul National University College of Medicine, Seoul, Republic of Korea.; Pokaż więcej
Źródło:: Translational neurodegeneration [Transl Neurodegener] 2024 Apr 02; Vol. 13 (1), pp. 18. Date of Electronic Publication: 2024 Apr 02.
Typ publikacji:: Letter
MeSH Terms:: Dopamine Plasma Membrane Transport Proteins*/metabolism
Multiple System Atrophy*/diagnostic imaging
Multiple System Atrophy*/metabolism
Humans ; Brain/metabolism ; Positron-Emission Tomography

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Skocz do pozycji: 16.

Tytuł:: Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen.
Autorzy:: Andrés-Benito P; Neurologic Diseases and Neurogenetics Group, Institute of Biomedical Research (IDIBELL), 08907 Barcelona, Spain.; CIBERNED (Network Centre of Biomedical Research of Neurodegenerative Diseases), Institute of Health Carlos III, 08907 Barcelona, Spain.
Vázquez-Costa JF; Neuromuscular Unit and ERN-NMD Group, Department of Neurology, Hospital Universitario y Politécnico La Fe and IIS La Fe, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 46026 Valencia, Spain.; Department of Medicine, University of Valencia, 46021 Valencia, Spain.
Ñungo Garzón NC; Neuromuscular Unit and ERN-NMD Group, Department of Neurology, Hospital Universitario y Politécnico La Fe and IIS La Fe, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 46026 Valencia, Spain.
Colomina MJ; Anesthesia and Critical Care Department, Bellvitge University Hospital-University of Barcelona, 08907 Barcelona, Spain.
Marco C; Functional Unit of Amyotrophic Lateral Sclerosis (UFELA), Department of Neurology, Bellvitge University Hospital, 08907 Barcelona, Spain.
González L; Functional Unit of Amyotrophic Lateral Sclerosis (UFELA), Department of Neurology, Bellvitge University Hospital, 08907 Barcelona, Spain.
Terrafeta C; Functional Unit of Amyotrophic Lateral Sclerosis (UFELA), Department of Neurology, Bellvitge University Hospital, 08907 Barcelona, Spain.
Domínguez R; Neurologic Diseases and Neurogenetics Group, Institute of Biomedical Research (IDIBELL), 08907 Barcelona, Spain.; CIBERNED (Network Centre of Biomedical Research of Neurodegenerative Diseases), Institute of Health Carlos III, 08907 Barcelona, Spain.; Functional Unit of Amyotrophic Lateral Sclerosis (UFELA), Department of Neurology, Bellvitge University Hospital, 08907 Barcelona, Spain.
Ferrer I; CIBERNED (Network Centre of Biomedical Research of Neurodegenerative Diseases), Institute of Health Carlos III, 08907 Barcelona, Spain.; Neuropathology Group, Institute of Biomedical Research (IDIBELL), 08907 Barcelona, Spain.; Department of Pathology and Experimental Therapeutics, University of Barcelona, 08907 Barcelona, Spain.
Povedano M; Neurologic Diseases and Neurogenetics Group, Institute of Biomedical Research (IDIBELL), 08907 Barcelona, Spain.; CIBERNED (Network Centre of Biomedical Research of Neurodegenerative Diseases), Institute of Health Carlos III, 08907 Barcelona, Spain.; Functional Unit of Amyotrophic Lateral Sclerosis (UFELA), Department of Neurology, Bellvitge University Hospital, 08907 Barcelona, Spain.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 29; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 29.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Atrophy, Spinal*
Spinal Muscular Atrophies of Childhood*
Oligonucleotides*
Humans ; Child ; Aged ; Chitinase-3-Like Protein 1 ; Biomarkers

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Skocz do pozycji: 17.

Tytuł:: Biases in α-synuclein immuno-quantitation: a core problem for basic and ancillary studies of Parkinson's disease and multiple system atrophy.
Autorzy:: Laferrière F; Univ. Bordeaux, CNRS, IMN, UMR 5293, 33000, Bordeaux, France. .
Sabatier L; Univ. Bordeaux, CNRS, IMN, UMR 5293, 33000, Bordeaux, France.
Claverol S; Bordeaux Proteome, Univ. Bordeaux, Bordeaux, France.
De Giorgi F; Univ. Bordeaux, CNRS, IMN, UMR 5293, 33000, Bordeaux, France.
Ichas F; Univ. Bordeaux, CNRS, IMN, UMR 5293, 33000, Bordeaux, France.; DiSTeBA, Univ. Salento, Anatomia Umana, Lecce, Italy.; Pokaż więcej
Źródło:: Translational neurodegeneration [Transl Neurodegener] 2024 Mar 25; Vol. 13 (1), pp. 15. Date of Electronic Publication: 2024 Mar 25.
Typ publikacji:: Letter
MeSH Terms:: alpha-Synuclein*/chemistry
alpha-Synuclein*/immunology
alpha-Synuclein*/metabolism
Multiple System Atrophy*/diagnosis
Multiple System Atrophy*/genetics
Parkinson Disease*/diagnosis
Humans ; Bias ; Brain/metabolism

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Skocz do pozycji: 18.

Tytuł:: Prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume.
Autorzy:: Otmani A; Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, 171 64, Stockholm, Sweden.
Jóhannesson G; Department of Clinical Sciences, Ophthalmology, Umeå University, Umeå, Sweden.; Wallenberg Centre of Molecular Medicine, Umeå University, Umeå, Sweden.; Department of Ophthalmology, University of Iceland, Reykjavik, Iceland.
Brautaset R; Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, 171 64, Stockholm, Sweden.
Tribble JR; Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, 171 64, Stockholm, Sweden. .
Williams PA; Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, 171 64, Stockholm, Sweden. .; Pokaż więcej
Źródło:: Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Mar 01; Vol. 12 (1), pp. 37. Date of Electronic Publication: 2024 Mar 01.
Typ publikacji:: Journal Article
MeSH Terms:: Rotenone*/toxicity
Rotenone*/metabolism
Optic Atrophy, Hereditary, Leber*/genetics
Optic Atrophy, Hereditary, Leber*/metabolism
Optic Atrophy, Hereditary, Leber*/therapy
Mice ; Animals ; Niacinamide/adverse effects ; Niacinamide/metabolism ; Mitochondria/metabolism ; Retinal Ganglion Cells ; Electron Transport Complex I/metabolism

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Skocz do pozycji: 19.

Tytuł:: RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy.
Autorzy:: Cattinari MG; Fundación Atrofia Muscular Espinal España (FundAME), Madrid, Spain. .
de Lemus M; Fundación Atrofia Muscular Espinal España (FundAME), Madrid, Spain.; SMA Europe, Freiburg, Germany.; Committee of Advanced Therapies at the European Medicines Agency, Amsterdam, The Netherlands.
Tizzano E; Department of Clinical and Molecular Genetics and Rare Diseases Unit and Medicine Genetics Group, VHIR, Hospital Valle Hebron, Barcelona, Spain.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 19; Vol. 19 (1), pp. 76. Date of Electronic Publication: 2024 Feb 19.
Typ publikacji:: Journal Article
MeSH Terms:: Disabled Persons*
Motor Disorders*
Muscular Atrophy, Spinal*/diagnosis
Spinal Muscular Atrophies of Childhood*
Child ; Adult ; Humans ; Infant ; Child, Preschool ; Adolescent ; Self Report ; Rare Diseases ; Registries

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Skocz do pozycji: 20.

Tytuł:: Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction.
Autorzy:: Bjelica B; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany. .
Wohnrade C; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.
Cespedes I; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.
Osmanovic A; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.; Essen Center for Rare Diseases (EZSE), University Hospital Essen, Essen, Germany.
Schreiber-Katz O; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.
Petri S; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.; Pokaż więcej
Źródło:: BMC neurology [BMC Neurol] 2024 Feb 17; Vol. 24 (1), pp. 67. Date of Electronic Publication: 2024 Feb 17.
Typ publikacji:: Observational Study; Journal Article
MeSH Terms:: Spinal Muscular Atrophies of Childhood*
Muscular Atrophy, Spinal*
Azo Compounds*
Pyrimidines*
Adult ; Humans ; Adolescent ; Young Adult ; Middle Aged ; Abdominal Pain ; Germany

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Skocz do pozycji: 21.

Tytuł:: Modeling Spinal Muscular Atrophy in Zebrafish: Current Advances and Future Perspectives.
Autorzy:: Gonzalez D; Millennium Institute Center for Genome Regulation, Facultad de Ciencias, Universidad de Chile, Santiago 7800003, RM, Chile.; Departamento de Ciencias Químicas y Biológicas, Facultad de Ciencias de la Salud, Universidad Bernardo O'Higgins, Santiago 8370854, RM, Chile.
Vásquez-Doorman C; Millennium Institute Center for Genome Regulation, Facultad de Ciencias, Universidad de Chile, Santiago 7800003, RM, Chile.; Departamento de Ciencias Químicas y Biológicas, Facultad de Ciencias de la Salud, Universidad Bernardo O'Higgins, Santiago 8370854, RM, Chile.
Luna A; Departamento de Ciencias Químicas y Biológicas, Facultad de Ciencias de la Salud, Universidad Bernardo O'Higgins, Santiago 8370854, RM, Chile.
Allende ML; Millennium Institute Center for Genome Regulation, Facultad de Ciencias, Universidad de Chile, Santiago 7800003, RM, Chile.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 06; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 06.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Neurodegenerative Diseases*
Muscular Atrophy, Spinal*/therapy
Motor Neuron Disease*
Animals ; Humans ; Zebrafish/genetics ; Motor Neurons ; Survival of Motor Neuron 1 Protein ; Disease Models, Animal

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Skocz do pozycji: 22.

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.; Pokaż więcej
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

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Skocz do pozycji: 23.

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.; Pokaż więcej
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

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Skocz do pozycji: 24.

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.; Pokaż więcej
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

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Skocz do pozycji: 25.

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. .; Pokaż więcej
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

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