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Somatic mutations in neurodegeneration: An update

Neurobiology of disease, 2020-10, Vol.144, p.105021-105021, Article 105021

Proukakis, Christos

2020

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Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

Lancet neurology, 2008-12, Vol.7 (12), p.1127-1138

2008

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Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Brain (London, England : 1878), 2016-07, Vol.139 (Pt 7), p.1904-1918

2016

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Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data

Movement disorders, 2013-06, Vol.28 (6), p.705-712

2013

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Hyposmia and cognitive impairment in Gaucher disease patients and carriers

Movement disorders, 2012-04, Vol.27 (4), p.526-532

2012

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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3618-3624

2013

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DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation

PloS one, 2017-07, Vol.12 (7), p.e0180467-e0180467

2017

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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

Molecular genetics & genomic medicine, 2019-03, Vol.7 (3), p.e564-n/a

2019

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Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

Human mutation, 2010-04, Vol.31 (4), p.E1251-E1260

2010

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Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease

Frontiers in neurology, 2020-10, Vol.11, p.570424

2020

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Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

Acta neuropathologica communications, 2019-12, Vol.7 (1), p.219-219, Article 219

2019

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Single-cell somatic copy number variants in brain using different amplification methods and reference genomes

Communications biology, 2024-10, Vol.7 (1), p.1288-10, Article 1288

2024

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The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder

Frontiers in neurology, 2019-05, Vol.10, p.555

2019

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A crowdsourced set of curated structural variants for the human genome

PLoS computational biology, 2020-06, Vol.16 (6), p.e1007933

2020

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Somatic mutations may contribute to asymmetry in neurodegenerative disorders

Brain communications, 2022-07, Vol.4 (4), p.fcac184-fcac184

Proukakis, Christos

2022

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Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia?

American journal of human genetics, 2002-11, Vol.71 (5), p.1009-1016

2002

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Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

Communications biology, 2022-07, Vol.5 (1), p.670-670, Article 670

2022

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Spastin and microtubules: Functions in health and disease

Journal of neuroscience research, 2007-09, Vol.85 (12), p.2778-2782

2007

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The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia

Genomics (San Diego, Calif.), 2003-04, Vol.81 (4), p.437-441

2003

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Human spastin has multiple microtubule‐related functions

Journal of neurochemistry, 2005-12, Vol.95 (5), p.1411-1420

2005

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A novel α-synuclein missense mutation in Parkinson disease

Neurology, 2013-03, Vol.80 (11), p.1062-1064

2013

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Sex Distribution of GBA1 Variants Carriers with Dementia with Lewy Bodies and Parkinson's Disease

Movement disorders, 2023-11, Vol.38 (11), p.2137-2139

2023

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Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort

JAMA neurology, 2015-02, Vol.72 (2), p.201

2015

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Selective vulnerability in α-synucleinopathies

Acta neuropathologica, 2019-11, Vol.138 (5), p.681-704

2019

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Detection of mosaic and population-level structural variants with Sniffles2

Nature biotechnology, 2024-01, Vol.42 (10), p.1571-1580

2024

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Somatic mutations in neurodegeneration: An update

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

Single-cell somatic copy number variants in brain using different amplification methods and reference genomes

The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder

A crowdsourced set of curated structural variants for the human genome

Somatic mutations may contribute to asymmetry in neurodegenerative disorders

Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia?

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

Spastin and microtubules: Functions in health and disease

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia

Human spastin has multiple microtubule‐related functions

A novel α-synuclein missense mutation in Parkinson disease

Sex Distribution of GBA1 Variants Carriers with Dementia with Lewy Bodies and Parkinson's Disease

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort

Selective vulnerability in α-synucleinopathies

Detection of mosaic and population-level structural variants with Sniffles2

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