Lista de obras - Pietro Fratta - Dominio Público Uruguay

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

artículo científico publicado en 2017

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects

scientific article published on 21 January 2014

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

artículo científico publicado en 2014

ALS mice carrying pathological mutant TDP-43, but not mutant FUS, display axonal transport defects in vivo

ATXN2 trinucleotide repeat length correlates with risk of ALS.

artículo científico publicado en 2016

An unusual presentation for SOD1-ALS: isolated facial diplegia.

artículo científico publicado en 2013

Antisense makes sense for amyotrophic lateral sclerosis ⬇️

artículo científico publicado el 29 de marzo de 2013

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

artículo científico publicado en 2021

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

artículo científico publicado en 2018

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

artículo científico publicado en 2015

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

scientific article published on 30 October 2013

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

artículo científico publicado en 2014

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2015

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

artículo científico publicado en 2022

Correlation of clinical and molecular features in spinal bulbar muscular atrophy.

artículo científico publicado en 2014

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration

artículo científico publicado en 2015

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

artículo científico publicado en 2006

G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.

artículo científico publicado en 2017

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Graphical modelling of molecular networks underlying sporadic inclusion body myositis.

artículo científico publicado en 2013

HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

artículo científico publicado en 2021

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

artículo científico publicado en 2013

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.

artículo científico publicado en 2017

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

artículo científico publicado en 2014

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

artículo científico publicado en 2013

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

artículo científico publicado en 2013

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

artículo científico publicado en 2018

Mutant ubiquitin UBB+1 is accumulated in sporadic inclusion-body myositis muscle fibers.

artículo científico publicado en 2004

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2014

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis.

artículo científico publicado en 2015

Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics

artículo científico publicado en 2015

No effect ofARpolyG polymorphism on spinal and bulbar muscular atrophy phenotype

artículo científico publicado en 2016

Novel CLN3 mutation causing autophagic vacuolar myopathy

artículo científico publicado en 2014

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

artículo científico publicado en 2014

Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study

artículo científico publicado en 2014

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons

artículo científico publicado en 2024

Post-transcriptional modifications caused by TDP-43 mutations in mouse and man.

artículo científico publicado en 2015

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

artículo científico publicado en 2013

Proteasome inhibition and aggresome formation in sporadic inclusion-body myositis and in amyloid-beta precursor protein-overexpressing cultured human muscle fibers

artículo científico publicado en 2005

Quantitative analysis of cryptic splicing associated with TDP-43 depletion

artículo científico publicado en 2017

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.

artículo científico publicado en 2014

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

artículo científico publicado en 2014

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

artículo científico publicado en 2013

Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis.

artículo científico publicado en 2016

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

artículo científico publicado en 2022

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

artículo científico publicado en 2015

The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis

artículo científico publicado en 2018

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

artículo científico publicado en 2016

Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism

artículo científico publicado en 2018

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy

artículo científico publicado en 2013

Lista de obras de Pietro Fratta

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity

ALS mice carrying pathological mutant TDP-43, but not mutant FUS, display axonal transport defects in vivo

ATXN2 trinucleotide repeat length correlates with risk of ALS.

An unusual presentation for SOD1-ALS: isolated facial diplegia.

Antisense makes sense for amyotrophic lateral sclerosis ⬇️

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

Correlation of clinical and molecular features in spinal bulbar muscular atrophy.

Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Graphical modelling of molecular networks underlying sporadic inclusion body myositis.

HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Mutant ubiquitin UBB+1 is accumulated in sporadic inclusion-body myositis muscle fibers.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis.

Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics

No effect ofARpolyG polymorphism on spinal and bulbar muscular atrophy phenotype

Novel CLN3 mutation causing autophagic vacuolar myopathy

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons

Post-transcriptional modifications caused by TDP-43 mutations in mouse and man.

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

Proteasome inhibition and aggresome formation in sporadic inclusion-body myositis and in amyloid-beta precursor protein-overexpressing cultured human muscle fibers

Quantitative analysis of cryptic splicing associated with TDP-43 depletion

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis.

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy