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Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis

Annals of neurology, 2013-08, Vol.74 (2), p.180-187

2013

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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Nature genetics, 2012-06, Vol.44 (6), p.636-638

2012

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M6A reduction relieves FUS-associated ALS granules

Nature communications, 2024-06, Vol.15 (1), p.5033-13

2024

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Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis

Journal of neuroinflammation, 2021-06, Vol.18 (1), p.132-132, Article 132

2021

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Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

Neurology, 2012-07, Vol.79 (1), p.66-72

2012

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Matrin 3 variants are frequent in Italian ALS patients

Neurobiology of aging, 2017-01, Vol.49, p.218.e1-218.e7

2017

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Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene

Cells (Basel, Switzerland), 2023-08, Vol.12 (16), p.2058

2023

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High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines

Genes, 2020-10, Vol.11 (10), p.1123

2020

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LETM1 couples mitochondrial DNA metabolism and nutrient preference

EMBO molecular medicine, 2018-09, Vol.10 (9), p.n/a

2018

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FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees

Neurogenetics, 2022-01, Vol.23 (1), p.59-65

2022

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Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia

Stem cell research, 2022-07, Vol.62, p.102825-102825, Article 102825

2022

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Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

Frontiers in neuroscience, 2017-10, Vol.11, p.587-587

2017

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Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein

Stem cell research, 2021-05, Vol.53, p.102356-102356, Article 102356

2021

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The S100A4 Transcriptional Inhibitor Niclosamide Reduces Pro-Inflammatory and Migratory Phenotypes of Microglia: Implications for Amyotrophic Lateral Sclerosis

Cells (Basel, Switzerland), 2019-10, Vol.8 (10), p.1261

2019

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Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant

Stem cell research, 2021-08, Vol.55, p.102461-102461, Article 102461

2021

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Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation

Stem cell research, 2018-12, Vol.33, p.146-150

2018

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Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e845-n/a

2019

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TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

Human mutation, 2013-06, Vol.34 (6), p.812-826

2013

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Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

Trends in genetics, 2015-05, Vol.31 (5), p.263-273

2015

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Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD

Human molecular genetics, 2015-03, Vol.24 (6), p.1682-1690

2015

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ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43

Cellular signalling, 2020-06, Vol.70, p.109591-109591, Article 109591

2020

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New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis

Brain pathology (Zurich, Switzerland), 2016-03, Vol.26 (2), p.266-275

2016

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TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.229-232

2013

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Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

M6A reduction relieves FUS-associated ALS granules

Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

Matrin 3 variants are frequent in Italian ALS patients

Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines

LETM1 couples mitochondrial DNA metabolism and nutrient preference

FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees

Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein

The S100A4 Transcriptional Inhibitor Niclosamide Reduces Pro-Inflammatory and Migratory Phenotypes of Microglia: Implications for Amyotrophic Lateral Sclerosis

Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant

Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients

TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

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