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Tytuł :
Evaluation of peripapillary atrophy in early open-angle glaucoma using autofluorescence combined with optical coherence tomography.
Autorzy :
Sayed SY; Department of Ophthalmology, National Institute of Diabetes and Endocrinology, National Organization for Teaching Hospitals and Institutes, Cairo, Egypt.
Raafat KA; Department of Ophthalmology, Faculty of Medicine, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.
Ahmed RA; Department of Ophthalmology, Faculty of Medicine, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.
Allam RSHM; Department of Ophthalmology, Faculty of Medicine, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt. .
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Źródło :
International ophthalmology [Int Ophthalmol] 2021 Jul; Vol. 41 (7), pp. 2405-2415. Date of Electronic Publication: 2021 Apr 29.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Glaucoma, Open-Angle*/diagnosis
Glaucoma, Open-Angle*/pathology
Optic Atrophy*/diagnosis
Optic Disk*/pathology
Atrophy/pathology ; Case-Control Studies ; Cross-Sectional Studies ; Humans ; Intraocular Pressure ; Optic Nerve ; Tomography, Optical Coherence
Czasopismo naukowe
Tytuł :
[A novel frameshift NDUFV1 mutation in a child with the phenotype of optic nerve atrophy].
Autorzy :
Zhang Z; Department of Ophthalmology, China-Japan Friendship Hospital, Beijing 100029, China.
Yuan H; Bascom Palmer Eye Institute, USA, 33136.
Zhang S; Beijing Haidian District Traditional Chinese Medicine Hospital, Beijing 100080, China.
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Źródło :
Nan fang yi ke da xue xue bao = Journal of Southern Medical University [Nan Fang Yi Ke Da Xue Xue Bao] 2021 May 20; Vol. 41 (5), pp. 789-792.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Optic Atrophy*/genetics
Optic Atrophy*/pathology
Adolescent ; Atrophy/pathology ; Child ; Electron Transport Complex I ; Female ; Frameshift Mutation ; Humans ; Mutation ; Optic Nerve/diagnostic imaging ; Optic Nerve/pathology ; Phenotype
Czasopismo naukowe
Tytuł :
A novel diagnostic marker for progressive supranuclear palsy targeting atrophy of the subthalamic nucleus.
Autorzy :
Fujioka S; Department of Neurology, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, Japan. Electronic address: .
Morishita T; Department of Neurosurgery, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, Japan. Electronic address: .
Takano K; Department of Radiology, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, Japan. Electronic address: .
Takahashi N; Department of Neurology, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, Japan.
Kurihara K; Department of Neurology, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, Japan. Electronic address: .
Nishida A; Department of Neurology, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, Japan.
Mishima T; Department of Neurology, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, Japan. Electronic address: .
Suenaga M; Department of Pharmaceutical Science, Tokushima Bunri University, 180 Nishihama, Yamashiro-cho, Tokushima, Japan. Electronic address: .
Matsunaga Y; Department of Neurosurgery, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, Japan. Electronic address: .
Tsuboi Y; Department of Neurology, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka, Japan. Electronic address: .
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Źródło :
Journal of the neurological sciences [J Neurol Sci] 2021 Apr 15; Vol. 423, pp. 117366. Date of Electronic Publication: 2021 Feb 23.
Typ publikacji :
Journal Article
MeSH Terms :
Multiple System Atrophy*/diagnostic imaging
Subthalamic Nucleus*
Supranuclear Palsy, Progressive*/diagnostic imaging
Atrophy ; Diagnosis, Differential ; Humans ; Magnetic Resonance Imaging ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Deep learning-based classification of retinal atrophy using fundus autofluorescence imaging.
Autorzy :
Miere A; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Créteil, France; Laboratory of Images, Signals and Intelligent Systems (LISSI), (EA N° 3956), University Paris-Est, Créteil, France. Electronic address: .
Capuano V; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
Kessler A; EPISEN - ISBS, University Paris-Est, Créteil, France.
Zambrowski O; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
Jung C; Clinical Research Center, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
Colantuono D; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
Pallone C; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
Semoun O; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
Petit E; Laboratory of Images, Signals and Intelligent Systems (LISSI), (EA N° 3956), University Paris-Est, Créteil, France.
Souied E; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil, Créteil, France.
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Źródło :
Computers in biology and medicine [Comput Biol Med] 2021 Mar; Vol. 130, pp. 104198. Date of Electronic Publication: 2020 Dec 28.
Typ publikacji :
Journal Article
MeSH Terms :
Deep Learning*
Geographic Atrophy*
Atrophy ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Optical Imaging ; Tomography, Optical Coherence
Czasopismo naukowe
Tytuł :
Coronavirus disease 2019-associated worsening and improvement of ataxia and gait in a patient with multiple system atrophy.
Autorzy :
Park JE; Department of Neurology, Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang, Korea.
Kwon KY; Department of Neurology, Soonchunhyang University Seoul Hospital, Soonchunhyang University School of Medicine, Seoul, Korea.
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Źródło :
Geriatrics & gerontology international [Geriatr Gerontol Int] 2021 Jul; Vol. 21 (7), pp. 591-593. Date of Electronic Publication: 2021 May 18.
Typ publikacji :
Letter
MeSH Terms :
Ataxia*/diagnosis
Ataxia*/etiology
COVID-19*
Gait*
Multiple System Atrophy/*complications
Atrophy ; Humans ; Male ; Middle Aged ; Multiple System Atrophy/diagnosis ; SARS-CoV-2 ; Severity of Illness Index
Opinia redakcyjna
Tytuł :
Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl.
Autorzy :
Guan W; Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Capital Medical University, 100005, Beijing, China.
Wang G; Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Capital Medical University, 100005, Beijing, China.
Hu F; Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Capital Medical University, 100005, Beijing, China.
Peng X; Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing Tongren Hospital, Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Capital Medical University, 100005, Beijing, China. .
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Źródło :
BMC ophthalmology [BMC Ophthalmol] 2021 Feb 18; Vol. 21 (1), pp. 93. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Gyrate Atrophy*/drug therapy
Pharmaceutical Preparations*
Atrophy/pathology ; Child ; China ; Choroid/pathology ; Female ; Fluorescein Angiography ; Humans ; Tomography, Optical Coherence ; Visual Acuity ; Vitamin B 6
Czasopismo naukowe
Tytuł :
Clinical Assessment and Etiological Evaluation of Optic Nerve Atrophy.
Autorzy :
Shrestha P; Mechi Eye Hospital, Birtamode, Jhapa, Nepal.
Sitaula S
Sharma AK
Joshi P
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Źródło :
Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH [Nepal J Ophthalmol] 2021 Jan; Vol. 13 (25), pp. 73-81.
Typ publikacji :
Journal Article
MeSH Terms :
Optic Atrophy*/diagnosis
Optic Atrophy*/etiology
Adult ; Atrophy ; Female ; Humans ; Male ; Middle Aged ; Optic Nerve ; Visual Acuity ; Visual Fields ; Young Adult
Czasopismo naukowe
Tytuł :
Relationship between peripapillary atrophy and myopia progression in the eyes of young school children.
Autorzy :
Moon Y; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Lim HT; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. .
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Źródło :
Eye (London, England) [Eye (Lond)] 2021 Feb; Vol. 35 (2), pp. 665-671. Date of Electronic Publication: 2020 May 12.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Myopia*
Optic Atrophy*/diagnosis
Optic Disk*/pathology
Atrophy/pathology ; Child ; Humans ; Retrospective Studies ; Schools
Czasopismo naukowe
Tytuł :
Split-hand sign: clinical feature of spinal bulbar muscular atrophy?
Autorzy :
Vucic S; Westmead Clinical School, University of Sydney, Westmead, New South Wales, Australia .
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Źródło :
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2020 Nov; Vol. 91 (11), pp. 1143-1144. Date of Electronic Publication: 2020 Oct 01.
Typ publikacji :
Editorial; Comment
MeSH Terms :
Bulbo-Spinal Atrophy, X-Linked*/diagnosis
Bulbo-Spinal Atrophy, X-Linked*/genetics
Muscular Atrophy, Spinal*/diagnosis
Humans ; Muscular Atrophy
Opinia redakcyjna
Tytuł :
Later-Onset Multiple System Atrophy: A Multicenter Asian Study.
Autorzy :
Lee YH; Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Ando T; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
Lee JJ; Department of Neurology, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, South Korea.
Baek MS; Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Lyoo CH; Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Kim SJ; Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, South Korea.
Kim M; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Cho JW; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Sohn YH; Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Katsuno M; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Watanabe H; Department of Neurology, Fujita Health University, Toyoake, Japan.
Yoshida M; Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
Lee PH; Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.; Severance Biomedical Science Institute, Yonsei University, Seoul, Korea.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Sep; Vol. 35 (9), pp. 1692-1693. Date of Electronic Publication: 2020 Jul 04.
Typ publikacji :
Letter; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Multiple System Atrophy*
Asian Continental Ancestry Group ; Atrophy ; Humans ; Phenotype
Raport
Tytuł :
[Sporadic Cerebellar Ataxia: Multiple System Atrophy and Mono System Atrophy].
Autorzy :
Watanabe H; Department of Neurology, Fujita Health University School of Medicine.
Ito M
Mizutani Y
Ueda A
Shima S
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Źródło :
Brain and nerve = Shinkei kenkyu no shinpo [Brain Nerve] 2020 Sep; Vol. 72 (9), pp. 931-937.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Cerebellar Ataxia*/diagnosis
Cerebellar Ataxia*/drug therapy
Multiple System Atrophy*/diagnosis
Multiple System Atrophy*/drug therapy
Multiple System Atrophy*/pathology
Adult ; Ataxia ; Atrophy/pathology ; Cerebellum ; Humans
Czasopismo naukowe
Tytuł :
[Bilateral optic nerve atrophy in an 18-year-old female patient with diabetes mellitus].
Autorzy :
Hall J; MVZ Prof. Neuhann, Rotkreuzklinikum München, Nymphenburger Str. 163, 80634, München, Deutschland. .
Neuhann T; MGZ - Medizinisch Genetisches Zentrum, Bayerstr. 3-5, 80335, München, Deutschland.
Treumer F; Klinik für Ophthalmologie (Augenheilkunde), Universitätsklinikum Schleswig-Holstein, Arnold-Heller-Str. 3, 24105, Kiel, Deutschland.
Neuhann T; MVZ Prof. Neuhann, Rotkreuzklinikum München, Nymphenburger Str. 163, 80634, München, Deutschland.
Neuhann I; MVZ Prof. Neuhann, Rotkreuzklinikum München, Nymphenburger Str. 163, 80634, München, Deutschland.
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Transliterated Title :
Beidseitige Optikusatrophie bei 18-jähriger Patientin mit Diabetes mellitus.
Źródło :
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft [Ophthalmologe] 2020 Sep; Vol. 117 (9), pp. 934-938.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Diabetes Mellitus, Type 1*/complications
Diabetes Mellitus, Type 1*/diagnosis
Optic Atrophy*/diagnosis
Optic Atrophy*/etiology
Adolescent ; Atrophy ; Female ; Humans ; Optic Nerve/diagnostic imaging
Czasopismo naukowe
Tytuł :
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
Autorzy :
da Silva Schmitt G; Neuromuscular Division, Department of Neurology, University of Campinas, Campinas, Brazil.
Martinez ARM; Neuromuscular Division, Department of Neurology, University of Campinas, Campinas, Brazil.
da Graça FF; Neuromuscular Division, Department of Neurology, University of Campinas, Campinas, Brazil.
de Lima FD; Neuromuscular Division, Department of Neurology, University of Campinas, Campinas, Brazil.
Bonadia LC; Department of Medical Genetics and Genomic Medicine, University of Campinas, Campinas, Brazil.
Amorim BJ; Nuclear Medicine Division, Department of Radiology, University of Campinas, Campinas, Brazil.
Nucci A; Neuromuscular Division, Department of Neurology, University of Campinas, Campinas, Brazil.
França MC Jr; Neuromuscular Division, Department of Neurology, University of Campinas, Campinas, Brazil.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Oct; Vol. 35 (10), pp. 1889-1890.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :
Multiple System Atrophy*
Parkinsonian Disorders*/drug therapy
Parkinsonian Disorders*/genetics
Atrophy ; Dihydroxyphenylalanine ; Homozygote ; Humans
Raport
Tytuł :
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
Autorzy :
Sullivan R; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.
Yau WY; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; The National Hospital for Neurology and Neurosurgery, Queen's Square, London, United Kingdom.
Chelban V; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; The National Hospital for Neurology and Neurosurgery, Queen's Square, London, United Kingdom.
Rossi S; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.
O'Connor E; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; The National Hospital for Neurology and Neurosurgery, Queen's Square, London, United Kingdom.
Wood NW; The National Hospital for Neurology and Neurosurgery, Queen's Square, London, United Kingdom.; Movement Disorders, Queen's Square Institute of Neurology, London, United Kingdom.
Cortese A; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioural Science, University of Pavia, Pavia, Italy.
Houlden H; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; The National Hospital for Neurology and Neurosurgery, Queen's Square, London, United Kingdom.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Oct; Vol. 35 (10), pp. 1890-1891.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :
Multiple System Atrophy*
Parkinsonian Disorders*/drug therapy
Parkinsonian Disorders*/genetics
Atrophy ; Humans ; Levodopa/therapeutic use
Raport
Tytuł :
Spinal Muscular Atrophy: Autopsy Based Neuropathological Demonstration.
Autorzy :
Thirunavukkarasu B; Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Gupta K; Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Bansal A; Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Dhanasekaran N; Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Baranwal A; Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
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Źródło :
Neurology India [Neurol India] 2020 Jul-Aug; Vol. 68 (4), pp. 882-885.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Atrophy, Spinal*/pathology
Spinal Muscular Atrophies of Childhood*/pathology
Autopsy ; Humans ; Infant ; Male ; Motor Neurons/pathology ; Muscular Atrophy/pathology ; Spinal Cord/pathology
Czasopismo naukowe
Tytuł :
Effects of fenofibrate and its combination with lovastatin on the expression of genes involved in skeletal muscle atrophy, including FoxO1 and its targets.
Autorzy :
Ajima H; Laboratory of Nutritional Biochemistry, Graduate School of Nutritional and Environmental Sciences, University of Shizuoka.
Kai Y; Department of Nutritional Science, National Institute of Health and Nutrition.
Fujimaki J; Laboratory of Nutritional Biochemistry, Graduate School of Nutritional and Environmental Sciences, University of Shizuoka.
Akashi S; Laboratory of Nutritional Biochemistry, Graduate School of Nutritional and Environmental Sciences, University of Shizuoka.
Morita A; Laboratory of Nutritional Biochemistry, Graduate School of Nutritional and Environmental Sciences, University of Shizuoka.
Ezaki O; Department of Nutritional Science, National Institute of Health and Nutrition.
Kamei Y; Department of Nutritional Science, National Institute of Health and Nutrition.; Laboratory of Molecular Nutrition, Graduate School of Environmental and Life Science, Kyoto Prefectural University.
Miura S; Laboratory of Nutritional Biochemistry, Graduate School of Nutritional and Environmental Sciences, University of Shizuoka.; Department of Nutritional Science, National Institute of Health and Nutrition.
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Źródło :
The Journal of toxicological sciences [J Toxicol Sci] 2021; Vol. 46 (1), pp. 11-24.
Typ publikacji :
Journal Article
MeSH Terms :
Fenofibrate/*adverse effects
Forkhead Box Protein O1/*genetics
Forkhead Box Protein O1/*metabolism
Gene Expression/*drug effects
Hydroxymethylglutaryl-CoA Reductase Inhibitors/*adverse effects
Lovastatin/*adverse effects
Muscle, Skeletal/*pathology
Muscular Atrophy/*chemically induced
Muscular Atrophy/*genetics
Animals ; Atrophy ; Drug Therapy, Combination/adverse effects ; Fenofibrate/administration & dosage ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/administration & dosage ; Lovastatin/administration & dosage ; Male ; Mice, Inbred C57BL ; Muscle, Skeletal/metabolism ; Rhabdomyolysis/chemically induced ; Rhabdomyolysis/genetics
Czasopismo naukowe
Tytuł :
RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy.
Autorzy :
Sullivan R; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.
Yau WY; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; The National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Chelban V; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; The National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Rossi S; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.
O'Connor E; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; The National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Wood NW; Movement Disorders, Queen's Square Institute of Neurology, London, United Kingdom.; The National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Cortese A; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioural Science, University of Pavia, Pavia, Italy.
Houlden H; Department of Neuromuscular Disease, Queen's Square Institute of Neurology, London, United Kingdom.; The National Hospital for Neurology and Neurosurgery, London, United Kingdom.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Jul; Vol. 35 (7), pp. 1277-1279. Date of Electronic Publication: 2020 Apr 24.
Typ publikacji :
Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Multiple System Atrophy*/genetics
Atrophy ; DNA Repeat Expansion ; Humans ; Introns/genetics
Raport
Tytuł :
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Autorzy :
Xu X; State Key Laboratory of Ophthalmology, Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China.
Wang P; State Key Laboratory of Ophthalmology, Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China.
Jia X; State Key Laboratory of Ophthalmology, Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China.
Sun W; State Key Laboratory of Ophthalmology, Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China.
Li S; State Key Laboratory of Ophthalmology, Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China.
Xiao X; State Key Laboratory of Ophthalmology, Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China.
Hejtmancik JF; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Zhang Q; State Key Laboratory of Ophthalmology, Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou, 510060, China. .
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Źródło :
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2021 Jul; Vol. 296 (4), pp. 845-862. Date of Electronic Publication: 2021 Apr 21.
Typ publikacji :
Journal Article
MeSH Terms :
GTP Phosphohydrolases/*genetics
Optic Atrophy, Autosomal Dominant/*genetics
Optic Atrophy, Autosomal Dominant/*pathology
Adolescent ; Adult ; Case-Control Studies ; Cells, Cultured ; Child ; Child, Preschool ; DNA Mutational Analysis ; Family ; Female ; Genetic Association Studies ; Genetic Testing ; Humans ; Male ; Mutation, Missense ; Optic Atrophy, Autosomal Dominant/epidemiology ; Optic Atrophy, Autosomal Dominant/urine ; Pedigree ; Phenotype ; Polymorphism, Genetic ; Urinalysis/methods ; Urine/cytology ; Young Adult
Czasopismo naukowe
Tytuł :
Prominent White Matter Involvement in Multiple System Atrophy of Cerebellar Type.
Autorzy :
Faber J; Clinical Research, German Center for Neurodegenerative Diseases, Bonn, Germany.; Department of Neurology, University Hospital Bonn, Germany.
Giordano I; Clinical Research, German Center for Neurodegenerative Diseases, Bonn, Germany.; Department of Neurology, University Hospital Bonn, Germany.
Jiang X; Clinical Research, German Center for Neurodegenerative Diseases, Bonn, Germany.
Kindler C; Clinical Research, German Center for Neurodegenerative Diseases, Bonn, Germany.; Department of Neurology, University Hospital Bonn, Germany.
Spottke A; Clinical Research, German Center for Neurodegenerative Diseases, Bonn, Germany.; Department of Neurology, University Hospital Bonn, Germany.
Acosta-Cabronero J; Tenoke Ltd., Cambridge, United Kingdom.
Nestor PJ; Queensland Brain Institute, University of Queensland, Brisbane, Australia.; Neuroscience and Cognitive Health Program, Mater Hospital, South Brisbane, Australia.
Machts J; German Center for Neurodegenerative Diseases, Magdeburg, Germany.; Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany.
Düzel E; German Center for Neurodegenerative Diseases, Magdeburg, Germany.; Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany.
Vielhaber S; German Center for Neurodegenerative Diseases, Magdeburg, Germany.; Department of Neurology, Otto-von-Guericke University, Magdeburg, Germany.
Speck O; German Center for Neurodegenerative Diseases, Magdeburg, Germany.; Department of Biomedical Magnetic Resonance, Faculty for Natural Sciences, Otto-von-Guericke University, Magdeburg, Germany.; Center for Behavioral Brain Sciences, Magdeburg, Germany.
Dudesek A; Department of Neurology, University of Rostock, Rostock, Germany.
Kamm C; Department of Neurology, University of Rostock, Rostock, Germany.
Scheef L; Clinical Research, German Center for Neurodegenerative Diseases, Bonn, Germany.; Department of Radiology, University of Bonn, Bonn, Germany.
Klockgether T; Clinical Research, German Center for Neurodegenerative Diseases, Bonn, Germany.; Department of Neurology, University Hospital Bonn, Germany.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 May; Vol. 35 (5), pp. 816-824. Date of Electronic Publication: 2020 Jan 29.
Typ publikacji :
Journal Article
MeSH Terms :
Multiple System Atrophy*/diagnostic imaging
Multiple System Atrophy*/pathology
White Matter*/diagnostic imaging
White Matter*/pathology
Adult ; Atrophy/pathology ; Cerebellum/diagnostic imaging ; Cerebellum/pathology ; Humans ; Image Processing, Computer-Assisted ; Magnetic Resonance Imaging
Czasopismo naukowe
Tytuł :
Subcortical atrophy and perfusion patterns in Parkinson disease and multiple system atrophy.
Autorzy :
Erro R; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Neuroscience Section, University of Salerno, Baronissi, SA, Italy. Electronic address: .
Ponticorvo S; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Neuroscience Section, University of Salerno, Baronissi, SA, Italy.
Manara R; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Neuroscience Section, University of Salerno, Baronissi, SA, Italy.
Barone P; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Neuroscience Section, University of Salerno, Baronissi, SA, Italy.
Picillo M; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Neuroscience Section, University of Salerno, Baronissi, SA, Italy.
Scannapieco S; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Neuroscience Section, University of Salerno, Baronissi, SA, Italy.
Cicarelli G; 'San Giuseppe Moscati' Hospital, Avellino, Italy.
Squillante M; University Hospital 'San Giovanni di Dio e Ruggi d'Aragona', Salerno, Italy.
Volpe G; University Hospital 'San Giovanni di Dio e Ruggi d'Aragona', Salerno, Italy.
Esposito F; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Neuroscience Section, University of Salerno, Baronissi, SA, Italy.
Pellecchia MT; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Neuroscience Section, University of Salerno, Baronissi, SA, Italy.
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Źródło :
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2020 Mar; Vol. 72, pp. 49-55. Date of Electronic Publication: 2020 Feb 21.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Basal Ganglia*/diagnostic imaging
Basal Ganglia*/pathology
Basal Ganglia*/physiopathology
Cerebellum*/diagnostic imaging
Cerebellum*/pathology
Cerebellum*/physiopathology
Cerebrovascular Circulation*/physiology
Multiple System Atrophy*/diagnostic imaging
Multiple System Atrophy*/pathology
Multiple System Atrophy*/physiopathology
Neuroimaging*/methods
Parkinson Disease*/diagnostic imaging
Parkinson Disease*/pathology
Parkinson Disease*/physiopathology
Aged ; Atrophy/pathology ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Spin Labels
Czasopismo naukowe

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