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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

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