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Wyszukujesz frazę ""Neuroaxonal Dystrophies"" wg kryterium: Temat


Tytuł :
Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy.
Autorzy :
Letko A; Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Strugnell B; Farm Post Mortems Ltd, Hamsterley House, Hamsterley, Bishop Auckland, Durham, DL13 3QF, UK.
Häfliger IM; Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Paris JM; Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Waine K; University of Nottingham, College Road, Sutton Bonington, Loughborough, LE12 5RD, UK.
Drögemüller C; Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland. .
Scholes S; SRUC Consulting Veterinary Services, Pentlands Science Park, Bush Estate Loan, Penicuik, Midlothian, EH26 0PZ, UK.
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Źródło :
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2021 Jan; Vol. 296 (1), pp. 235-242. Date of Electronic Publication: 2020 Nov 06.
Typ publikacji :
Journal Article
MeSH Terms :
Polymorphism, Single Nucleotide*
Amyloid beta-Protein Precursor/*genetics
Group VI Phospholipases A2/*genetics
Neuroaxonal Dystrophies/*genetics
Neuroaxonal Dystrophies/*veterinary
Sheep Diseases/*genetics
Alternative Splicing ; Amyloid beta-Protein Precursor/metabolism ; Animals ; Base Sequence ; Chromosome Mapping ; Chromosomes, Mammalian/chemistry ; Exons ; Female ; Gene Expression ; Genetic Linkage ; Group VI Phospholipases A2/deficiency ; Heterozygote ; Introns ; Male ; Neuroaxonal Dystrophies/metabolism ; Neuroaxonal Dystrophies/pathology ; Sheep ; Sheep Diseases/metabolism ; Sheep Diseases/pathology ; Sheep, Domestic ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient.
Autorzy :
Christoforou S; St George's University of London (SGUL), London, UK.
Christodoulou K; The Cyprus Institute of Neurology and Genetics (CING), Nicosia, Cyprus; The Cyprus School of Molecular Medicine, Nicosia, Cyprus.
Anastasiadou V; The Cyprus School of Molecular Medicine, Nicosia, Cyprus; Archbishop Makarios III Hospital, Nicosia, Cyprus.
Nicolaides P; The University of Nicosia Medical School (UNic), Nicosia, Cyprus; The American Medical Center, Nicosia, Cyprus. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Mar; Vol. 63 (3), pp. 103765. Date of Electronic Publication: 2019 Sep 16.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Carrier Proteins/*genetics
Iron Metabolism Disorders/*diagnosis
Neuroaxonal Dystrophies/*diagnosis
Basal Ganglia/diagnostic imaging ; Basal Ganglia/pathology ; Brain/diagnostic imaging ; Brain/pathology ; Child ; Epileptic Syndromes/genetics ; Female ; Heterozygote ; Humans ; Iron Metabolism Disorders/diagnostic imaging ; Iron Metabolism Disorders/genetics ; Iron Metabolism Disorders/physiopathology ; Magnetic Resonance Imaging ; Neuroaxonal Dystrophies/diagnostic imaging ; Neuroaxonal Dystrophies/genetics ; Neuroaxonal Dystrophies/physiopathology ; Sequence Deletion
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Tytuł :
Palliative care in 9 children with neurodegeneration with brain iron accumulation.
Autorzy :
Dangel T; Warsaw Hospice for Children Foundation, Agatowa 10, 03-680, Warsaw, Poland. .
Kmieć T; Department of Neurology and Epileptology, Children's Memorial Health Institute, Warsaw, Poland.
Januszaniec A; Warsaw Hospice for Children Foundation, Agatowa 10, 03-680, Warsaw, Poland.
Ważny B; Warsaw Hospice for Children Foundation, Agatowa 10, 03-680, Warsaw, Poland.
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Mar; Vol. 41 (3), pp. 653-660. Date of Electronic Publication: 2019 Nov 22.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Home Care Services*
Iron Metabolism Disorders/*therapy
Neuroaxonal Dystrophies/*therapy
Neuromuscular Agents/*pharmacology
Palliative Care/*methods
Adolescent ; Bone Diseases/drug therapy ; Bone Diseases/etiology ; Botulinum Toxins/pharmacology ; Child ; Dystonia/drug therapy ; Dystonia/etiology ; Female ; Humans ; Iron Metabolism Disorders/complications ; Iron Metabolism Disorders/drug therapy ; Iron Metabolism Disorders/nursing ; Male ; Muscle Spasticity/drug therapy ; Muscle Spasticity/etiology ; Musculoskeletal Pain/drug therapy ; Musculoskeletal Pain/etiology ; Neuroaxonal Dystrophies/complications ; Neuroaxonal Dystrophies/drug therapy ; Neuroaxonal Dystrophies/nursing
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Tytuł :
Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models.
Autorzy :
Hales EN; Department of Population, Health and Reproduction, University of California, Davis School of Veterinary Medicine, Davis, CA 95616, USA.
Esparza C; Department of Population, Health and Reproduction, University of California, Davis School of Veterinary Medicine, Davis, CA 95616, USA.
Peng S; Department of Population, Health and Reproduction, University of California, Davis School of Veterinary Medicine, Davis, CA 95616, USA.
Dahlgren AR; Department of Population, Health and Reproduction, University of California, Davis School of Veterinary Medicine, Davis, CA 95616, USA.
Peterson JM; Department of Population, Health and Reproduction, University of California, Davis School of Veterinary Medicine, Davis, CA 95616, USA.
Miller AD; Department of Biomedical Sciences, Cornell University College of Veterinary Medicine, Ithaca, NY 14853, USA.
Finno CJ; Department of Population, Health and Reproduction, University of California, Davis School of Veterinary Medicine, Davis, CA 95616, USA.
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Źródło :
Genes [Genes (Basel)] 2020 Jan 10; Vol. 11 (1). Date of Electronic Publication: 2020 Jan 10.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Horses/*genetics
Neuroaxonal Dystrophies/*genetics
Animals ; Disease Models, Animal ; Female ; Genome-Wide Association Study ; Homozygote ; Horse Diseases/genetics ; Male ; Mice ; Mice, Inbred C3H ; Mice, Knockout ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; Neuroaxonal Dystrophies/veterinary ; Phenotype ; Vitamin E ; Vitamin E Deficiency
Czasopismo naukowe
Tytuł :
[Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy].
Autorzy :
Tan J; Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou, Guangxi 545001, China. .
Yan T
Chang R
Yuan D
Pan L
Cai R
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Jan 10; Vol. 37 (1), pp. 21-24.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Group VI Phospholipases A2*/genetics
Neuroaxonal Dystrophies*/genetics
Child ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.
Autorzy :
Mohamed FE; Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box: 17666, Al Ain, United Arab Emirates.
Al Sorkhy M; College of Pharmacy, Al Ain University of Science and Technology, Al Ain, United Arab Emirates.
Ghattas MA; College of Pharmacy, Al Ain University of Science and Technology, Al Ain, United Arab Emirates.
Al-Zaabi N; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates.
Al-Shamsi A; Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates.
Almansoori TM; Department of Radiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Al-Gazali L; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Al-Dirbashi OY; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Al-Jasmi F; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. .; Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates. .
Ali BR; Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box: 17666, Al Ain, United Arab Emirates. .
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Źródło :
Journal of molecular neuroscience : MN [J Mol Neurosci] 2020 Jan; Vol. 70 (1), pp. 45-55. Date of Electronic Publication: 2019 Aug 29.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation, Missense*
Phenotype*
Lysosomal Storage Diseases/*genetics
Neuroaxonal Dystrophies/*genetics
alpha-N-Acetylgalactosaminidase/*deficiency
Adult ; Catalytic Domain ; Cells, Cultured ; Child ; Female ; Humans ; Lysosomal Storage Diseases/pathology ; Male ; Neuroaxonal Dystrophies/pathology ; Pedigree ; Protein Binding ; alpha-N-Acetylgalactosaminidase/chemistry ; alpha-N-Acetylgalactosaminidase/genetics ; alpha-N-Acetylgalactosaminidase/metabolism
SCR Disease Name :
Schindler Disease, Type I
Czasopismo naukowe
Tytuł :
Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation.
Autorzy :
Wang ZB; Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China.
Liu JY; Department of Orthopaedics, The First Affiliated Hospital of the University of South China, Hengyang 421001, PR China.
Xu XJ; Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China.
Mao XY; Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China.
Zhang W; Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China.
Zhou HH; Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China.
Liu ZQ; Departments of Clinical Pharmacology and National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China. Electronic address: .
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Źródło :
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie [Biomed Pharmacother] 2019 Oct; Vol. 118, pp. 109068. Date of Electronic Publication: 2019 Aug 09.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Group VI Phospholipases A2/*genetics
Iron Metabolism Disorders/*genetics
Mitochondria/*pathology
Mitochondrial Proteins/*genetics
Neuroaxonal Dystrophies/*genetics
Phosphotransferases (Alcohol Group Acceptor)/*genetics
Transferases/*genetics
Humans ; Iron Metabolism Disorders/metabolism ; Iron Metabolism Disorders/pathology ; Lipid Metabolism/genetics ; Membrane Potential, Mitochondrial/genetics ; Neuroaxonal Dystrophies/metabolism ; Neuroaxonal Dystrophies/pathology
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Tytuł :
Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging.
Autorzy :
Cozzi A; Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Orellana DI; Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Santambrogio P; Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Rubio A; Stem Cells and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy; Institute of Neuroscience, National Research Council, 20129 Milan, Italy.
Cancellieri C; Stem Cells and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Giannelli S; Stem Cells and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Ripamonti M; Neuroimmunology Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Taverna S; Neuroimmunology Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Di Lullo G; Tumour Immunology, Division of Immunology, Transplantation and Infectious Diseases, San Raffaele Scientific Institute, 20132 Milan, Italy.
Rovida E; Institute for Genetic and Biomedical Research, National Research Council, 20138 Milan, Italy.
Ferrari M; Genomic Unit for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, 20132 Milan, Italy; Vita-Salute San Raffaele University, Via Olgettina 58, 20132 Milan, Italy.
Forni GL; Centre for Congenital Anaemias, Iron Dysmetabolism Galliera Hospital Genoa, Genoa, Italy.
Fiorillo C; Unit of Paediatric Neurology, Gaslini Institute, DINOGMI, University of Genoa, Genoa, Italy.
Broccoli V; Stem Cells and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy; Institute of Neuroscience, National Research Council, 20129 Milan, Italy.
Levi S; Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy; Vita-Salute San Raffaele University, Via Olgettina 58, 20132 Milan, Italy. Electronic address: .
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Źródło :
Stem cell reports [Stem Cell Reports] 2019 Nov 12; Vol. 13 (5), pp. 832-846. Date of Electronic Publication: 2019 Oct 03.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Ferroptosis*
Iron/*metabolism
Iron Metabolism Disorders/*pathology
Neuroaxonal Dystrophies/*pathology
Neurons/*pathology
Cells, Cultured ; Cellular Senescence ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Induced Pluripotent Stem Cells/pathology ; Iron Metabolism Disorders/metabolism ; Middle Aged ; Neuroaxonal Dystrophies/metabolism ; Neurons/metabolism
SCR Disease Name :
Neuroferritinopathy
Czasopismo naukowe
Tytuł :
Mutant L-chain ferritins that cause neuroferritinopathy alter ferritin functionality and iron permeability.
Autorzy :
McNally JR; Department of Chemistry, State University of New York, Potsdam, New York 13676, USA. .
Mehlenbacher MR
Luscieti S
Smith GL
Reutovich AA
Maura P
Arosio P
Bou-Abdallah F
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Źródło :
Metallomics : integrated biometal science [Metallomics] 2019 Oct 16; Vol. 11 (10), pp. 1635-1647.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Apoferritins/*genetics
Apoferritins/*metabolism
Iron/*metabolism
Iron Metabolism Disorders/*genetics
Neuroaxonal Dystrophies/*genetics
Apoferritins/chemistry ; Humans ; Iron Metabolism Disorders/metabolism ; Models, Molecular ; Neuroaxonal Dystrophies/metabolism ; Oxidation-Reduction ; Point Mutation ; Protein Stability ; Protein Unfolding
SCR Disease Name :
Neuroferritinopathy
Czasopismo naukowe
Tytuł :
Sequential formation of different layers of dystrophic neurites in Alzheimer's brains.
Autorzy :
Sharoar MG; Department of Neuroscience, University of Connecticut Health, Farmington, CT, 06032, USA.
Hu X; Department of Neuroscience, University of Connecticut Health, Farmington, CT, 06032, USA.
Ma XM; Department of Neuroscience, University of Connecticut Health, Farmington, CT, 06032, USA.
Zhu X; Department of Pathology, Case Western University School of Medicine, Cleveland, OH, 44106, USA.
Yan R; Department of Neuroscience, University of Connecticut Health, Farmington, CT, 06032, USA. .
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Źródło :
Molecular psychiatry [Mol Psychiatry] 2019 Sep; Vol. 24 (9), pp. 1369-1382. Date of Electronic Publication: 2019 Mar 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Alzheimer Disease/*metabolism
Neurites/*pathology
Neuroaxonal Dystrophies/*pathology
Alzheimer Disease/physiopathology ; Amyloid beta-Protein Precursor/metabolism ; Animals ; Autophagy-Related Proteins/metabolism ; Brain/metabolism ; Disease Models, Animal ; Endoplasmic Reticulum/metabolism ; Humans ; Membrane Proteins/metabolism ; Mice ; Mice, Transgenic ; Nerve Tissue Proteins/metabolism ; Neuroaxonal Dystrophies/classification ; Neuroaxonal Dystrophies/diagnostic imaging ; Plaque, Amyloid/metabolism ; Vesicular Transport Proteins/metabolism
Czasopismo naukowe
Tytuł :
Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus.
Autorzy :
Mehta S; Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, IN.
Lal V; Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, IN.
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Źródło :
Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2019 Aug 21; Vol. 9. Date of Electronic Publication: 2019 Aug 21 (Print Publication: 2019).
Typ publikacji :
Case Reports
MeSH Terms :
Dystonia/*etiology
Iron Metabolism Disorders/*complications
Neuroaxonal Dystrophies/*complications
Posture/*physiology
Adult ; Dystonia/physiopathology ; Humans ; Iron Metabolism Disorders/diagnosis ; Iron Metabolism Disorders/genetics ; Male ; Muscle, Skeletal/physiopathology ; Neuroaxonal Dystrophies/diagnosis ; Neuroaxonal Dystrophies/genetics ; Torso/physiopathology
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Raport
Tytuł :
Are some C19orf12 variants monoallelic for neurological disorders?
Autorzy :
Tariq H; Department of Neurogenetics, UCL Institute of Neurology, Queen Square House, University College London, London, UK; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
Butt JUR; Punjab Institute of Neurosciences, Lahore General Hospital, Lahore, Pakistan.
Houlden H; Department of Neurogenetics, UCL Institute of Neurology, Queen Square House, University College London, London, UK. Electronic address: .
Naz S; School of Biological Sciences, University of the Punjab, Lahore, Pakistan. Electronic address: .
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Źródło :
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2019 Aug; Vol. 65, pp. 267-269. Date of Electronic Publication: 2019 May 13.
Typ publikacji :
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Iron Metabolism Disorders*/genetics
Iron Metabolism Disorders*/metabolism
Iron Metabolism Disorders*/pathology
Iron Metabolism Disorders*/physiopathology
Neuroaxonal Dystrophies*/genetics
Neuroaxonal Dystrophies*/metabolism
Neuroaxonal Dystrophies*/pathology
Neuroaxonal Dystrophies*/physiopathology
Mitochondrial Proteins/*genetics
Adolescent ; Alleles ; Female ; Humans ; Male ; Pedigree
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Raport
Tytuł :
Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds.
Autorzy :
Marquardt SA; Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA. .
Wilcox CV; Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA. .
Burns EN; Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA. .
Peterson JA; Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA. .
Finno CJ; Department of Population, Health and Reproduction at the University of California, Davis, Davis, CA 95616, USA. .
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Źródło :
Genes [Genes (Basel)] 2019 Sep 05; Vol. 10 (9). Date of Electronic Publication: 2019 Sep 05.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Polymorphism, Single Nucleotide*
Horse Diseases/*genetics
Horses/*genetics
Neuroaxonal Dystrophies/*genetics
Receptors, G-Protein-Coupled/*genetics
Receptors, Peptide/*genetics
Animals ; Mutation, Missense ; Neuroaxonal Dystrophies/veterinary
Czasopismo naukowe
Tytuł :
[Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing].
Autorzy :
Lu Y; Department of Neonatology, Xianning Central Hospital/First Affiliated Hospital of Hubei University of Science and Technology, Xianning, Hubei 437100, China. .
Liu CH
Wang Y
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Źródło :
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2019 Sep; Vol. 21 (9), pp. 851-855.
Typ publikacji :
Journal Article
MeSH Terms :
Neuroaxonal Dystrophies*/genetics
Neurodegenerative Diseases*/genetics
Group VI Phospholipases A2/*genetics
Child, Preschool ; Humans ; Magnetic Resonance Imaging ; Male ; Mutation
Czasopismo naukowe
Tytuł :
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Autorzy :
Gregory A; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Lotia M; Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.
Jeong SY; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Fox R; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Zhen D; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Sanford L; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Hamada J; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Jahic A; Department of Clinical Chemistry, Jena University Hospital, Jena, Germany.
Beetz C; Department of Clinical Chemistry, Jena University Hospital, Jena, Germany.
Freed A; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Kurian MA; Developmental Neurosciences, GOSH-Institute of Child Health, UCL & Department of Neurology, Great Ormond Street Hospital, London, UK.
Cullup T; North East Thames Regional Genetics Laboratory, London, UK.
van der Weijden MCM; Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands.
Nguyen V; Pathology, Oregon Health & Science University, Portland, Oregon.
Setthavongsack N; Pathology, Oregon Health & Science University, Portland, Oregon.
Garcia D; Pathology, Oregon Health & Science University, Portland, Oregon.
Krajbich V; Pathology, Oregon Health & Science University, Portland, Oregon.
Pham T; Pathology, Oregon Health & Science University, Portland, Oregon.
Woltjer R; Pathology, Oregon Health & Science University, Portland, Oregon.
George BP; Department of Neurology, University of Rochester Medical Center, Rochester, New York.
Minks KQ; Department of Neurology, University of Rochester Medical Center, Rochester, New York.
Paciorkowski AR; Department of Neurology, University of Rochester Medical Center, Rochester, New York.; Departments of Pediatrics, Biomedical Genetics, and Neuroscience, University of Rochester Medical Center, Rochester, New York.
Hogarth P; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
Jankovic J; Parkinson's Disease Center and Movement Disorder Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.
Hayflick SJ; Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland, Oregon.
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Źródło :
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Jul; Vol. 7 (7), pp. e00736. Date of Electronic Publication: 2019 May 13.
Typ publikacji :
Journal Article
MeSH Terms :
Iron Metabolism Disorders/*genetics
Membrane Proteins/*genetics
Mitochondrial Proteins/*genetics
Neuroaxonal Dystrophies/*genetics
Adult ; Brain ; Codon, Nonsense/genetics ; Cohort Studies ; Family ; Female ; Genes, Dominant/genetics ; Heterozygote ; Humans ; Iron Metabolism Disorders/metabolism ; Male ; Mitochondrial Membranes/metabolism ; Mitochondrial Proteins/metabolism ; Mutation ; Neuroaxonal Dystrophies/metabolism ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/metabolism ; Pedigree
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Czasopismo naukowe
Tytuł :
Structure, Function, Folding, and Aggregation of a Neuroferritinopathy-Related Ferritin Variant.
Autorzy :
Kuwata T; Department of Bioinformatics , Soka University , 1-236 Tangi-machi , Hachioji, Tokyo 192-8577 , Japan.
Okada Y; Department of Bioinformatics , Soka University , 1-236 Tangi-machi , Hachioji, Tokyo 192-8577 , Japan.
Yamamoto T; Department of Bioinformatics , Soka University , 1-236 Tangi-machi , Hachioji, Tokyo 192-8577 , Japan.
Sato D; Department of Bioinformatics , Soka University , 1-236 Tangi-machi , Hachioji, Tokyo 192-8577 , Japan.
Fujiwara K; Department of Bioinformatics , Soka University , 1-236 Tangi-machi , Hachioji, Tokyo 192-8577 , Japan.
Fukumura T; EM Research and Development Department , JEOL Ltd. , 3-1-2 Musashino , Akishima, Tokyo 196-8558 , Japan.
Ikeguchi M; Department of Bioinformatics , Soka University , 1-236 Tangi-machi , Hachioji, Tokyo 192-8577 , Japan.
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Źródło :
Biochemistry [Biochemistry] 2019 May 07; Vol. 58 (18), pp. 2318-2325. Date of Electronic Publication: 2019 Apr 23.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Protein Aggregation, Pathological*
Protein Folding*
Apoferritins/*chemistry
Ferritins/*chemistry
Iron Metabolism Disorders/*metabolism
Neuroaxonal Dystrophies/*metabolism
Apoferritins/genetics ; Apoferritins/metabolism ; Circular Dichroism ; Ferritins/genetics ; Ferritins/metabolism ; Humans ; Hydrogen-Ion Concentration ; Iron Metabolism Disorders/genetics ; Iron Metabolism Disorders/pathology ; Microscopy, Electron, Transmission ; Mutation, Missense ; Neuroaxonal Dystrophies/genetics ; Neuroaxonal Dystrophies/pathology ; Protein Stability ; Scattering, Small Angle ; Temperature ; X-Ray Diffraction
SCR Disease Name :
Neuroferritinopathy
Czasopismo naukowe
Tytuł :
Teaching NeuroImages: Beaking in the brainstem: A diagnostic clue.
Autorzy :
Kesavan S; From the Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre (S.K., I.K.S., S.R.D., L.S., J.K.S., N.S.), and Department of Radiodiagnosis and Imaging (S.V.), Post Graduate Institute of Medical Education & Research, Chandigarh, India.
Sharawat IK; From the Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre (S.K., I.K.S., S.R.D., L.S., J.K.S., N.S.), and Department of Radiodiagnosis and Imaging (S.V.), Post Graduate Institute of Medical Education & Research, Chandigarh, India.
Dhawan SR; From the Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre (S.K., I.K.S., S.R.D., L.S., J.K.S., N.S.), and Department of Radiodiagnosis and Imaging (S.V.), Post Graduate Institute of Medical Education & Research, Chandigarh, India.
Saini L; From the Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre (S.K., I.K.S., S.R.D., L.S., J.K.S., N.S.), and Department of Radiodiagnosis and Imaging (S.V.), Post Graduate Institute of Medical Education & Research, Chandigarh, India. .
Vyas S; From the Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre (S.K., I.K.S., S.R.D., L.S., J.K.S., N.S.), and Department of Radiodiagnosis and Imaging (S.V.), Post Graduate Institute of Medical Education & Research, Chandigarh, India.
Sahu JK; From the Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre (S.K., I.K.S., S.R.D., L.S., J.K.S., N.S.), and Department of Radiodiagnosis and Imaging (S.V.), Post Graduate Institute of Medical Education & Research, Chandigarh, India.
Sankhyan N; From the Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre (S.K., I.K.S., S.R.D., L.S., J.K.S., N.S.), and Department of Radiodiagnosis and Imaging (S.V.), Post Graduate Institute of Medical Education & Research, Chandigarh, India.
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Źródło :
Neurology [Neurology] 2019 Apr 23; Vol. 92 (17), pp. e2066-e2067.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Brain Stem/*diagnostic imaging
Cerebellum/*diagnostic imaging
Corpus Callosum/*diagnostic imaging
Neuroaxonal Dystrophies/*diagnosis
Atrophy/diagnostic imaging ; Atrophy/genetics ; Child, Preschool ; Group VI Phospholipases A2/genetics ; Humans ; Male ; Neuroaxonal Dystrophies/diagnostic imaging ; Neuroaxonal Dystrophies/genetics
Czasopismo naukowe
Tytuł :
Beta-propeller protein associated neurodegeneration (BPAN); the first report of three patients from Iran with de novo novel mutations.
Autorzy :
Rohani M; Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
Fasano A; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Krembil Research Institute, Toronto, Ontario, Canada.
Akhoundi FH; Department of Neurology, Firouzgar Hospital, Iran University of Medical Sciences, Tehran, Iran.
Haeri G; Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran.
Lang AE; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital and Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Krembil Research Institute, Toronto, Ontario, Canada.
Rahimi Bidgoli MM; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Javanparast L; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Zamani B; Department of Neurology, Firouzgar Hospital, Iran University of Medical Sciences, Tehran, Iran.
Shahidi G; Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran; Department of Neurology, Firouzgar Hospital, Iran University of Medical Sciences, Tehran, Iran.
Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address: .
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Źródło :
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2019 Apr; Vol. 61, pp. 231-233. Date of Electronic Publication: 2018 Nov 13.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Iron Metabolism Disorders/*diagnosis
Neuroaxonal Dystrophies/*diagnosis
Adult ; Carrier Proteins/genetics ; Female ; Humans ; Iran ; Iron Metabolism Disorders/genetics ; Iron Metabolism Disorders/pathology ; Iron Metabolism Disorders/physiopathology ; Magnetic Resonance Imaging ; Neuroaxonal Dystrophies/genetics ; Neuroaxonal Dystrophies/pathology ; Neuroaxonal Dystrophies/physiopathology ; Ultrasonography, Doppler, Transcranial ; Young Adult
SCR Disease Name :
Neurodegeneration with brain iron accumulation (NBIA)
Raport
Tytuł :
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Autorzy :
Darling A; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain.
Tello CA; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe, Valencia, Spain.
Serrano M; Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, CIBERER, Instituto de Salud Carlos III, Spain.
Tomás M; Pediatric Neurology Department, Hospital Universitario Politécnico La Fe, Valencia, Spain.
Camino-León R; Pediatric Neurology Department, Hospital Universitario Reina Sofía, Córdoba, Spain.
Fernández-Ramos J; Pediatric Neurology Department, Hospital Universitario Reina Sofía, Córdoba, Spain.
Jiménez-Escrig A; Neurology Department, Hospital Ramón y Cajal, Madrid, Spain.
Poó P; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
O'Callaghan M; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Ortez C; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Nascimento A; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Fernández Mesaque RC; Pediatric Neurology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Madruga M; Pediatric Neurology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Arrabal L; Pediatric Neurology Department, Hospital Virgen de las Nieves, Granada, Spain.
Roldan S; Pediatric Neurology Department, Hospital Virgen de las Nieves, Granada, Spain.
Gómez-Martín H; Pediatric Neurology Department, Hospital San Pedro de Alcántara, Complejo Hospitalario Universitario de Cáceres, Spain.
Garrido C; Pediatric Neurology Department, Centro Materno-Infantil, Centro Hospitalario do Porto, Porto, Portugal.
Temudo T; Pediatric Neurology Department, Centro Materno-Infantil, Centro Hospitalario do Porto, Porto, Portugal.
Jou-Muñoz C; Pathology Department, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, CIBERER, Instituto de Salud Carlos III, Spain.
Muchart J; Neuroradiology Department, Sant Joan de Déu Hospital, University of Barcelona, Barcelona, Spain.
Huisman TAGM; Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Poretti A; Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Lupo V; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe, Valencia, Spain.
Espinós C; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe, Valencia, Spain.
Pérez-Dueñas B; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain. Electronic address: .
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Źródło :
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2019 Apr; Vol. 61, pp. 179-186. Date of Electronic Publication: 2018 Oct 13.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Cerebellum/*pathology
Globus Pallidus/*metabolism
Neuroaxonal Dystrophies/*pathology
Neuroaxonal Dystrophies/*physiopathology
Substantia Nigra/*metabolism
Adolescent ; Adult ; Age of Onset ; Atrophy/pathology ; Cerebellum/diagnostic imaging ; Child ; Child, Preschool ; Cross-Sectional Studies ; Globus Pallidus/diagnostic imaging ; Group VI Phospholipases A2/genetics ; Humans ; Magnetic Resonance Imaging ; Neuroaxonal Dystrophies/diagnostic imaging ; Phenotype ; Severity of Illness Index ; Substantia Nigra/diagnostic imaging ; Young Adult
Czasopismo naukowe
Tytuł :
Impaired iPLA 2 β activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA 2 β activity as the cause of iron deposition in PLAN.
Autorzy :
Guo YP; Center for Brain Disorders Research, Capital Medical University and Beijing Institute of Brain Disorders, Beijing 100069, People's Republic of China; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China.
Tang BS; Center for Brain Disorders Research, Capital Medical University and Beijing Institute of Brain Disorders, Beijing 100069, People's Republic of China; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China; Center for Medical Genetics, Central South University, Changsha 410008, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China.
Liu HL; Center for Brain Disorders Research, Capital Medical University and Beijing Institute of Brain Disorders, Beijing 100069, People's Republic of China; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China.
Huang JJ; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China.
Xu Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China.
Sun QY; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China.
Yan XX; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China.
Guo JF; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, Hunan, People's Republic of China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China; Center for Medical Genetics, Central South University, Changsha 410008, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha 410008, Hunan, People's Republic of China. Electronic address: .
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Źródło :
Brain research [Brain Res] 2019 Jun 01; Vol. 1712, pp. 25-33. Date of Electronic Publication: 2019 Jan 29.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Group VI Phospholipases A2/*metabolism
Iron/*metabolism
Neuroaxonal Dystrophies/*metabolism
Antigens, CD/metabolism ; Apoferritins/metabolism ; Biochemical Phenomena ; Biological Transport ; Brain/metabolism ; Cation Transport Proteins/metabolism ; Cell Line, Tumor ; Group VI Phospholipases A2/genetics ; Humans ; Magnetic Resonance Imaging ; Naphthalenes/pharmacology ; Neuroaxonal Dystrophies/genetics ; Pyrones/pharmacology ; Receptors, Transferrin/metabolism ; Transcription Factors/metabolism
Czasopismo naukowe

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