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Last Posted: Sep 23, 2024

• Clonal hematopoiesis with DNMT3A mutations is associated with multiple system atrophy.
  Seungmin Lee, et al. Parkinsonism & related disorders 2024 0 107145
• Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
  Xu-Ying Li, et al. European journal of neurology 2024 0 e16441
• Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
  Kenta Orimo, et al. Journal of human genetics 2024 0
• Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
  Annalisa Schaub, et al. Journal of neurology 2024 0
• Genome sequence analyses identify novel risk loci for multiple system atrophy.
  Ruth Chia, et al. Neuron 2024 0
• Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis.
  Yufen Peng, et al. Open life sciences 2023 0 (1) 20220762
• Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation.
  Tommaso Carrer, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 0
• The molecular spectrum of amyloid-beta (A?) in neurodegenerative diseases beyond Alzheimer's disease.
  Shojiro Ichimata, et al. Brain pathology (Zurich, Switzerland) 2023 0 e13210
• Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.
  Yasuo Nakahara, et al. medRxiv : the preprint server for health sciences 2023 0
• Frequency of GBA variants in autopsy-proven multiple system atrophy.
  Sklerov Miriam, et al. Movement disorders clinical practice 2017 0 (4) 574-581
• Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
  Giordano Ilaria, et al. Neurology 2017 0 (10) 1043-1049
• COQ2 variants in Parkinson's disease and multiple system atrophy.
  Mikasa Michitaka, et al. Journal of neural transmission (Vienna, Austria : 1996) 2018 0 (6) 937-944
• Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients.
  Mongelli Alessia, et al. Neuroscience letters 2018 0 37-42
• Somatic copy number gains of ?-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.
  Mokretar Katya, et al. Brain : a journal of neurology 2018 0 (8) 2419-2431
• Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome.
  Jabbari Edwin, et al. JAMA neurology 2019 0 (3) 377-387
• Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.
  Foti Sandrine C, et al. Scientific reports 2019 0 (1) 6559
• Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration.
  Forrest Shelley L, et al. Neurology 2019 0 (21) e2472-e2482
• Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
  Wilke Matheus V M B, et al. Orphanet journal of rare diseases 2019 0 (1) 103
• Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study.
  Avenali Micol, et al. Journal of neurology, neurosurgery, and psychiatry 2019 0 (10) 1091-1097
• Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.
  Ozaki Kokoro, et al. Parkinsonism & related disorders 2019 0 238-242
• Screening for Niemann-Pick type C disease in neurodegenerative diseases.
  Boenzi Sara, et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 0 266-267
• Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy.
  Wan Linlin, et al. Annals of neurology 2020 0 (6) 1132-1143
• Contribution of Five Functional Loci of Dopamine Metabolism-Related Genes to Parkinson's Disease and Multiple System Atrophy in a Chinese Population.
  Chen Yongping, et al. Frontiers in neuroscience 2020 0 889
• Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease.
  Leija-Salazar Melissa, et al. Frontiers in neurology 2020 0 570424
• Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.
  Shadrin Alexey A, et al. Movement disorders : official journal of the Movement Disorder Society 2020 0 (2) 449-459
• Intrafamilial phenotypic variation in spinocerebellar ataxia type 23.
  Satoh Shunichi, et al. Cerebellum & ataxias 2020 0 7
• Laryngeal Movement Disorders in Multiple System Atrophy: A Diagnostic Biomarker?
  Gandor Florin, et al. Movement disorders : official journal of the Movement Disorder Society 2020 0 (12) 2174-2183
• Clinicopathologic and genetic features of multiple system atrophy with Lewy body disease.
  Koga Shunsuke, et al. Brain pathology (Zurich, Switzerland) 2020 0 (4) 766-778
• Shared Metabolic Profile of Caffeine in Parkinsonian Disorders.
  Takeshige-Amano Haruka, et al. Movement disorders : official journal of the Movement Disorder Society 2020 0 (8) 1438-1447
• COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population.
  Porto Kristine Joyce, et al. Journal of the neurological sciences 2021 0 117623
• Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
  Montaut Solveig, et al. Journal of neurology 2021 0 (9) 3337-3343
• Determinants of cognitive impairment in multiple system atrophy: Clinical and genetic study.
  Nasri Amina, et al. PloS one 2022 0 (12) e0277798
• Association Analysis of WNT3, HLA-DRB5 and IL1R2 Polymorphisms in Chinese Patients With Parkinson's Disease and Multiple System Atrophy.
  Su Wei-Ming, et al. Frontiers in genetics 2021 0 765833
• Prediction of early-wheelchair dependence in multiple system atrophy based on machine learning algorithm: A prospective cohort study.
  Lingyu Zhang et al. Clinical parkinsonism & related disorders 2023 8100183
• Progression of parkinsonism in multiple system atrophy.
  Seppi Klaus, et al. Journal of neurology 2005 0 (1) 91-6
• Multiple system atrophy/progressive supranuclear palsy: alpha-Synuclein, synphilin, tau, and APOE.
  Morris H R, et al. Neurology 2001 0 (12) 1918-20
• Role of Apolipoprotein E in the Clinical Profile of Atypical Parkinsonian Syndromes.
  Nasri Amina, et al. Alzheimer disease and associated disorders 2022 0 (1) 36-43
• COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition.
  Kuo Ming-Che, et al. European journal of neurology 2022 6
• Genetics of validated Parkinson's disease subtypes in the Oxford Discovery and Tracking Parkinson's cohorts.
  Lawton Michael, et al. Journal of neurology, neurosurgery, and psychiatry 2022 6
• Mutation Screening of TFG in ?-Synucleinopathy and Amyotrophic Lateral Sclerosis.
  Li Chunyu, et al. Movement disorders : official journal of the Movement Disorder Society 2022 5
• Artificial intelligence in neurodegenerative diseases: A review of available tools with a focus on machine learning techniques.
  Tautan Alexandra-Maria et al. Artificial intelligence in medicine 2021 117102081
• Investigating ELOVL7 coding variants in multiple system atrophy.
  Wernick Anna I, et al. Neuroscience letters 2021 2 135723
• Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.
  Wernick Anna I, et al. Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2021 1
• A diagnostic strategy for Parkinsonian syndromes using quantitative indices of DAT SPECT and MIBG scintigraphy: an investigation using the classification and regression tree analysis.
  Iwabuchi Yu et al. European journal of nuclear medicine and molecular imaging 2021 Jan
• Association of mitochondrial genomic background with risk of Multiple System Atrophy.
  Valentino Rebecca R, et al. Parkinsonism & related disorders 2020 10 200-204
• GBA variation and susceptibility to multiple system atrophy.
  Wernick Anna I, et al. Parkinsonism & related disorders 2020 6 64-69
• DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.
  Procopio Radha, et al. Neurobiology of aging 2020 4
• Reductions in COQ2 Expression Relate to Reduced ATP Levels in Multiple System Atrophy Brain.
  Hsiao Jen-Hsiang T, et al. Frontiers in neuroscience 2019 0 1187
• Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.
  Procopio Radha, et al. Gene 2019 8 144037
• ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.
  Conway Olivia J, et al. Molecular neurodegeneration 2018 0 (1) 53
• MAPT haplotype diversity in multiple system atrophy.
  Labbé Catherine, et al. Parkinsonism & related disorders 2016 0 40-5
• Assessment of APOE in atypical parkinsonism syndromes.
  Sabir Marya S, et al. Neurobiology of disease 2019 2
• The relationship between four GWAS-identified loci in Alzheimer's disease and the risk of Parkinson's disease, amyotrophic lateral sclerosis, and multiple system atrophy.
  Chen Yongping, et al. Neuroscience letters 2018 8
• Association study between multiple system atrophy and TREM2 p.R47H.
  Ogaki Kotaro, et al. Neurology. Genetics 2018 8 (4) e257
• Functional Variant rs3135500 in NOD2 Increases the Risk of Multiple System Atrophy in a Chinese Population.
  Cao Bei, et al. Frontiers in aging neuroscience 2018 0 150
• GBA-Associated Parkinson's Disease and Other Synucleinopathies.
  Gan-Or Ziv et al. Current neurology and neuroscience reports 2018 Jun 18(8) 44
• No association between 5 new GWAS-linked loci in Parkinson's disease and multiple system atrophy in a Chinese population.
  Chen Yongping, et al. Neurobiology of aging 2018 4
• Analysis of GWAS-linked variants in multiple system atrophy.
  Gu XiaoJing, et al. Neurobiology of aging 2018 3
• LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.
  Ouled Amar Bencheikh Bouchra, et al. Parkinsonism & related disorders 2018 3
• Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations.
  Chen Yongping, et al. Journal of molecular neuroscience : MN 2018 3

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