L. Citrigno

发表

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL

A. Quattrone, M. Muglia, D. Guidetti, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1

A. Quattrone, M. Muglia, A. Gambardella, 2011, Child's Nervous System.

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

M. Pericak-Vance, F. Speziani, G. Montenegro, 2011, Clinical genetics.

LETTERS TO THE EDITOR AMYLOID POLYNEUROPATHY FOLLOWING DOMINO LIVER TRANSPLANTATION

R. Tortelli, M. Muglia, A. Gambardella, 2012 .

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

G. Logroscino, G. Tedeschi, A. Quattrone, 2012, Neurobiology of Aging.

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

Mariagiovanna Cantone, R. Ferri, M. Muglia, 2012, Acta Neurologica Belgica.

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

A. Brice, G. Stevanin, A. Federico, 2009, Journal of the Neurological Sciences.

ALS and CHARGE syndrome: a clinical and genetic study

G. Tedeschi, M. Muglia, S. Cavallaro, 2018, Acta Neurologica Belgica.

Autosomal dominant lateral temporal epilepsy (ADLTE): Absence of chromosomal rearrangements in LGI1 gene

A. Quattrone, A. Gambardella, A. Labate, 2014, Epilepsy Research.

A novel mutation in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene associated with a severe Rett phenotype

A. Quattrone, M. Muglia, F. Conforti, 2009, American journal of medical genetics. Part A.

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

G. Tedeschi, M. Muglia, F. Conforti, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

SMN1 gene copy number analyses for SMA healthy carriers in Italian population

M. Muglia, F. Conforti, A. Magariello, 2012, Journal of Pediatric Genetics.

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness

R. Tortelli, M. Muglia, I. Simone, 2014, Journal of the Neurological Sciences.

High-throughput sequencing of two populations of extracellular vesicles provides an mRNA signature that can be detected in the circulation of breast cancer patients

Valentina R Minciacchi, B. Karlan, G. Viglietto, 2016, RNA biology.

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

M. Muglia, P. Pugliese, F. Conforti, 2018, Acta Neurologica Belgica.

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B

F. Cavalcanti, P. Spadafora, O. Gallo, 2022, International journal of molecular sciences.

The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives

G. Pioggia, A. Cerasa, F. Cavalcanti, 2020, International journal of molecular sciences.

CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene

M. Muglia, M. Liguori, A. Quattrone, 2009, Journal of neuroscience research.

ALS and CHARGE syndrome: a clinical and genetic study

G. Tedeschi, M. Muglia, S. Cavallaro, 2018, Acta Neurologica Belgica.

A Blood-Based Molecular Clock for Biological Age Estimation

V. Lagani, P. D’Aquila, G. Passarino, 2022, Cells.

An ELOVL2-Based Epigenetic Clock for Forensic Age Prediction: A Systematic Review

V. Lagani, G. Passarino, A. Montesanto, 2022, International journal of molecular sciences.

LC-MALDI-TOF ISD MS analysis is an effective, simple and rapid method of investigation for histones characterization: Application to EBV lymphoblastoid cell lines.

M. Gaspari, P. Spadafora, N. Romeo, 2021, Journal of mass spectrometry : JMS.

A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3‐q35.2

L. Passamonti, M. Muglia, M. Bellesi, 2008, Clinical genetics.

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

M. Mancuso, A. Quattrone, M. Muglia, 2010, Journal of the Neurological Sciences.

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia

R. Tortelli, M. Muglia, M. Liguori, 2013, European journal of neurology.

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

S. Zuchner, M. Muglia, M. Zappia, 2014, European journal of neurology.

Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.

F. Cavalcanti, P. Spadafora, D. Battaglia, 2022, Pediatric neurology.

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy

A. Tessitore, G. Tedeschi, G. Majorana, 2009, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

E. Mercuri, F. Cavalcanti, M. Muglia, 2019, BMC Medical Genetics.

Thymic function and survival at advance ages in nursing home residents from Southern Italy

V. Lagani, R. Maletta, G. Passarino, 2023, Immunity & Ageing.

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

Mariagiovanna Cantone, R. Ferri, M. Muglia, 2012, Acta Neurologica Belgica.

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

M. Muglia, P. Pugliese, F. Conforti, 2018, Acta Neurologica Belgica.

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

L. Citrigno, Arielle Kushman, S. Züchner, 2011, Clinical genetics.

LETTERS TO THE EDITOR AMYLOID POLYNEUROPATHY FOLLOWING DOMINO LIVER TRANSPLANTATION

L. Padua, R. Tortelli, M. Lucchetta, 2012 .

MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh

F. Cavalcanti, M. Gaspari, P. Spadafora, 2023, Clinical chemistry and laboratory medicine.

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

S. Züchner, M. Muglia, M. Zappia, 2014, European journal of neurology.

Genetic screening for familial amyloid polyneuropathy in patients with idiopathic carpal tunnel syndrome

A. Quattrone, M. Muglia, M. Liguori, 2008, Journal of the peripheral nervous system : JPNS.

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

M. Muglia, C. Russo, E. Ferlazzo, 2017, Journal of the Neurological Sciences.