Lista de obras - Christos Proukakis - Dominio Público Uruguay

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia

artículo científico publicado en 2004

A crowdsourced set of curated structural variants for the human genome

artículo científico publicado en 2020

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

artículo científico publicado en 2015

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.

artículo científico publicado en 2001

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

artículo científico publicado en 2014

Complex mosaic structural variations in human fetal brains

artículo científico publicado en 2020

Copy number variation of in familial dystonic tremor

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Defective mitochondrial mRNA maturation is associated with spastic ataxia

artículo científico publicado en 2010

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

artículo científico publicado en 2011

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers

scientific article published on 28 June 2019

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

artículo científico publicado en 2015

Exit, pursued by a bear

artículo científico publicado en 2008

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

artículo científico publicado en 2014

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

artículo científico publicado en 2016

Genetics of Parkinson's disease: alpha-synuclein and other insights from Greece

artículo científico publicado en 2014

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

scientific article published on December 2008

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

artículo científico publicado en 2004

Human spastin has multiple microtubule-related functions

artículo científico publicado en 2005

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

artículo científico publicado en 2012

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

artículo científico publicado en 2004

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

artículo científico publicado en 2019

Is the transportation highway the right road for hereditary spastic paraplegia?

artículo científico publicado en 2002

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

artículo científico publicado en 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders

article

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

artículo científico publicado en 2002

Selective vulnerability in α-synucleinopathies

artículo científico publicado en 2019

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

artículo científico publicado en 2013

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains

artículo científico publicado en 2018

Somatic mutations in neurodegeneration

artículo científico publicado en 2018

Spastin and microtubules: Functions in health and disease.

artículo científico publicado en 2007

The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein.

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2003

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia

artículo científico publicado en 2002

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia

artículo científico publicado en 2004

Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26

article by Xiang Li et al published 15 July 1994 in Genomics

Visual short-term memory deficits associated with GBA mutation and Parkinson's disease

artículo científico publicado en 2014

α-Synuclein mutations cluster around a putative protein loop

artículo científico publicado en 2013

α-Synuclein structural features inhibit harmful polyunsaturated fatty acid oxidation, suggesting roles in neuroprotection

artículo científico publicado en 2017

Lista de obras de Christos Proukakis

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia

A crowdsourced set of curated structural variants for the human genome

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

Complex mosaic structural variations in human fetal brains

Copy number variation of in familial dystonic tremor

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

Defective mitochondrial mRNA maturation is associated with spastic ataxia

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

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

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers

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

Exit, pursued by a bear

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Genetics of Parkinson's disease: alpha-synuclein and other insights from Greece

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Human spastin has multiple microtubule-related functions

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

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

Is the transportation highway the right road for hereditary spastic paraplegia?

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

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

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

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Selective vulnerability in α-synucleinopathies

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

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains

Somatic mutations in neurodegeneration

Spastin and microtubules: Functions in health and disease.

The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein.

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

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

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia

Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26

Visual short-term memory deficits associated with GBA mutation and Parkinson's disease

α-Synuclein mutations cluster around a putative protein loop

α-Synuclein structural features inhibit harmful polyunsaturated fatty acid oxidation, suggesting roles in neuroprotection