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The role of androgen receptor gene variants on SBMA phenotype

Journal of the neurological sciences, 2015-10, Vol.357, p.e231-e231

2015

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Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2014-05, Vol.85 (5), p.506-508

2014

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No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

European journal of neurology, 2016-06, Vol.23 (6), p.1134-1136

2016

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Investigating dysfunctional RNA processing in TDP-43 mouse mutants

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S32-S32

2017

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A missense mutation in the mouse TDP-43 gene leads to a gain of TDP-43 mediated splicing function: Implications for neurodegeneration

Journal of the neurological sciences, 2013-10, Vol.333, p.e438-e439

2013

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

Neurology, 2004-09, Vol.63 (6), p.1114

2004

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Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

Neurology, 2019-03, Vol.92 (11), p.e1205

2019

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UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target

Journal of neurology, neurosurgery and psychiatry, 2023-08, Vol.94 (8), p.649

2023

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O18 A new mouse model of ALS carrying a point mutation in the mouse Sod1 gene

Neuromuscular disorders : NMD, 2011, Vol.21, p.S6-S6

2011

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P16 Investigating novel mutant mouse models of motor neuron disease

Neuromuscular disorders : NMD, 2011, Vol.21, p.S11-S11

2011

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

The Journal of neuroscience, 2006-02, Vol.26 (8), p.2358-2368

2006

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Muscle and neuronal peripheral biomarkers for spinal and bulbar muscle atrophy: muscle holds more promise

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S26

2018

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MND06 - Muscle and neuronal peripheral biomarkers for spinal and bulbar muscle atrophy: muscle holds more promise

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S26-S26

2018

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241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15–17th February, 2019 Hoofddorp, The Netherlands

Neuromuscular disorders : NMD, 2019-09, Vol.29 (9), p.716-724

2019

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

Communications biology, 2022-04, Vol.5 (1), p.314-314, Article 314

2022

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Open-source, low-cost, high-reliability solutions for digital imaging systems: example of a "dicom router"

Radiologia medica, 2007-12, Vol.112 (8), p.1252-1259

2007

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Proteasome Inhibition and Aggresome Formation in Sporadic Inclusion-Body Myositis and in Amyloid-β Precursor Protein-Overexpressing Cultured Human Muscle Fibers

The American journal of pathology, 2005-08, Vol.167 (2), p.517-526

2005

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Dissecting TDP-43 gain- and loss-of-function in neurodegeneration

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S26

2018

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MND05 - Dissecting TDP-43 gain- and loss-of-function in neurodegeneration

Neuromuscular disorders : NMD, 2018-04, Vol.28, p.S26-S26

2018

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MN13 - Investigating dysfunctional RNA processing in TDP-43 mouse mutants

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S32-S32

2017

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Investigation of pathogenic mechanisms underlying motor neuron diseases

Fratta, P

2014

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ProQuest

Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 15

Journal of the peripheral nervous system, 2003-02, Vol.8 (1), p.29-58

2003

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Morphological And Electrophysiological Signs Of Dysmyelination In Transgenic Mice Expressing CMT1B (MPZ DELSer34) or DSS (MPZ Ser34Cys) Mutations

Journal of the peripheral nervous system, 2001-03, Vol.6 (1), p.58-59

2001

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Cannabidiol as a Potential Treatment for Anxiety and Mood Disorders: Molecular Targets and Epigenetic Insights from Preclinical Research

International journal of molecular sciences, 2021-02, Vol.22 (4), p.1863

2021

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Localized thermonuclear bursts from accreting magnetic white dwarfs

Nature (London), 2022-04, Vol.604 (7906), p.447-450

2022

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The role of androgen receptor gene variants on SBMA phenotype

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis

No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

Investigating dysfunctional RNA processing in TDP-43 mouse mutants

A missense mutation in the mouse TDP-43 gene leads to a gain of TDP-43 mediated splicing function: Implications for neurodegeneration

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

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target

O18 A new mouse model of ALS carrying a point mutation in the mouse Sod1 gene

P16 Investigating novel mutant mouse models of motor neuron disease

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

Muscle and neuronal peripheral biomarkers for spinal and bulbar muscle atrophy: muscle holds more promise

MND06 - Muscle and neuronal peripheral biomarkers for spinal and bulbar muscle atrophy: muscle holds more promise

241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15–17th February, 2019 Hoofddorp, The Netherlands

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

Open-source, low-cost, high-reliability solutions for digital imaging systems: example of a "dicom router"

Proteasome Inhibition and Aggresome Formation in Sporadic Inclusion-Body Myositis and in Amyloid-β Precursor Protein-Overexpressing Cultured Human Muscle Fibers

Dissecting TDP-43 gain- and loss-of-function in neurodegeneration

MND05 - Dissecting TDP-43 gain- and loss-of-function in neurodegeneration

MN13 - Investigating dysfunctional RNA processing in TDP-43 mouse mutants

Investigation of pathogenic mechanisms underlying motor neuron diseases

Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 15

Morphological And Electrophysiological Signs Of Dysmyelination In Transgenic Mice Expressing CMT1B (MPZ DELSer34) or DSS (MPZ Ser34Cys) Mutations

Cannabidiol as a Potential Treatment for Anxiety and Mood Disorders: Molecular Targets and Epigenetic Insights from Preclinical Research

Localized thermonuclear bursts from accreting magnetic white dwarfs

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