S. Lattante

M. Sabatelli, A. Conte, M. Zollino, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with “multisystem proteinopathy” and frontotemporal lobar degeneration phenotypes

D. Hannequin, A. Brice, D. Wallon, 2014, Neurobiology of Aging.

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

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

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

A. Vescovi, L. De Gioia, S. Martino, 2022, Antioxidants.

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

A. Brice, I. Le Ber, E. Kabashi, 2013, Annals of neurology.

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations

B. Dubois, B. Laurent, A. Brice, 2016, Neurology: Genetics.

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

P. Andersen, A. Ludolph, Jochen H Weishaupt, 2021, Neurogenetics.

P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

S. Servidei, M. Sabatelli, A. Conte, 2012, Neuromuscular Disorders.

D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation

M. Sabatelli, A. Conte, M. Zollino, 2011, Journal of the Neurological Sciences.

Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients

J. Mandrioli, M. Sabatelli, A. Conte, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum

G. Tasca, P. Mandich, B. Udd, 2020, European journal of neurology.

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

S. Lehéricy, B. Dubois, J. Pariente, 2019, Neurobiology of Aging.

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

S. Rossi, F. Michetti, M. Cozzolino, 2019, Cells.

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

P. Rossini, G. Neri, M. Sabatelli, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia

B. Dubois, R. Guerreiro, A. Brice, 2014, Neurobiology of Aging.

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

E. Mercuri, G. Neri, P. Chiurazzi, 2012, Nature Genetics.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

E. Zackai, M. Harr, B. Keena, 2017, European journal of medical genetics.

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

C. Leoni, C. Simone, M. Zollino, 2019, Molecular genetics & genomic medicine.

A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders

M. D. Di Giacomo, D. Orteschi, M. Zollino, 2018, American journal of medical genetics. Part A.

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia

A. Brice, A. Camuzat, E. Kabashi, 2013, Neurobiology of Aging.

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration–amyotrophic lateral sclerosis patients

J. Pariente, A. Brice, A. Camuzat, 2013, Neurobiology of Aging.

A novel L67P SOD1 mutation in an Italian ALS patient

M. Sabatelli, A. Conte, M. Zollino, 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

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

A. Provenzani, Angelantonio Notarangelo, M. Sabatelli, 2018, Stem cell research.

LETM1 couples mitochondrial DNA metabolism and nutrient preference

H. Houlden, A. Spinazzola, I. Holt, 2018, EMBO molecular medicine.

Wolf–Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

J. Fryns, J. Pilch, P. Iwanowski, 2011, American journal of medical genetics. Part A.

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

E. Mercuri, D. Orteschi, M. Zollino, 2017, Front. Neurosci..

G. Neri, V. Leuzzi, D. Orteschi, 2012, European Journal of Human Genetics.

ATXN2 trinucleotide repeat length correlates with risk of ALS

Ashley R. Jones, J. Hardy, Yi-Chung Lee, 2017, Neurobiology of Aging.

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

M. Sabatelli, A. Conte, M. Zollino, 2020, Genes.

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

G. Rouleau, E. Kabashi, S. Lattante, 2015, Trends in genetics : TIG.

Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

P. Rossini, M. Mirabella, M. Sabatelli, 2013, Human molecular genetics.

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.

F. Eusebi, C. Limatola, A. Al-Chalabi, 2009, Human molecular genetics.

The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

R. Pettinato, C. Romano, G. Vasco, 2011, American journal of medical genetics. Part A.

Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.

D. Colavito, E. Del Giudice, M. Sabatelli, 2021, Human molecular genetics.

G. Tasca, M. Sabatelli, A. Conte, 2016, Brain pathology.

Matrin 3 variants are frequent in Italian ALS patients

G. Tasca, M. Sabatelli, A. Conte, 2017, Neurobiology of Aging.

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis

D. Marchione, E. Del Giudice, A. Leon, 2023, European journal of neurology.

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

M. Sabatelli, A. Conte, M. Zollino, 2011, Neurobiology of Aging.

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS

L. Pozzi, M. Sabatelli, A. Conte, 2019, Neurobiology of Aging.

Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation

C. Bucci, V. La Bella, M. De Luca, 2022, Brain communications.

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

A. Brice, I. Le Ber, E. Kabashi, 2015, Human molecular genetics.

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

A. Chiò, G. Mora, A. Calvo, 2015, Neurology.

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

Hannah A. Pliner, A. Mulas, F. Marrosu, 2016, Neurobiology of Aging.

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

M. Sabatelli, A. Conte, D. Orteschi, 2021, Stem cell research.

Peripheral neuropathy and 46XY gonadal dysgenesis: Confirmation of a heterogeneous entity

S. Corsello, M. Sabatelli, A. Conte, 2012, Clinical Neurology and Neurosurgery.

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

G. Rouleau, E. Kabashi, S. Lattante, 2013, Human mutation.

D11Y SOD1 mutation and benign ALS: A consistent genotype-phenotype correlation

A. Conte, M. Luigetti, G. Bisogni, 2011, Journal of the Neurological Sciences.

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

C. Bernardini, C. Sette, M. Sabatelli, 2023, Cells.

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

S. Lehéricy, B. Dubois, J. Pariente, 2019, Neurobiology of Aging.

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

Hannah A. Pliner, John D. Eicher, Janel O. Johnson, 2021, JAMA Neurology.

M6A reduction relieves FUS-associated ALS granules

Tiziana Santini, D. Rotili, G. Vicidomini, 2023, bioRxiv.

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

M. Sabatelli, A. Conte, M. Zollino, 2011, Neurobiology of Aging.

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

A. Vescovi, L. Bernardini, M. Sabatelli, 2021, Stem cell research.

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

A. Brice, I. Le Ber, E. Kabashi, 2015, Human molecular genetics.