A. Patitucci

发表

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

A. Tessitore, G. Tedeschi, G. Majorana, 2006, Journal of Negative Results in BioMedicine.

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

P. Gasparini, A. Filla, G. Cavaletti, 2004, Neuromuscular Disorders.

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 Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL

F. Fera, A. Quattrone, M. Muglia, 2004, Neurology.

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

G. Logroscino, F. Cavalcanti, M. Muglia, 2012, Neurology.

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

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

Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy

L. Passamonti, L. Provinciali, A. Quattrone, 2004, Neuromuscular Disorders.

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies

A. Quattrone, M. Muglia, F. Conforti, 2007, Journal of the Neurological Sciences.

Comparison of different techniques for detecting 17p12 duplication in CMT1A

A. Quattrone, M. Muglia, F. Condino, 2005, Neuromuscular Disorders.

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.

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy

A. Quattrone, M. Muglia, F. Conforti, 2007, Neuroscience Letters.

Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)

A. Quattrone, M. Muglia, M. Zappia, 2005, Neurology.

Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia

G. Tedeschi, A. Quattrone, M. Muglia, 2002, Annals of neurology.

Clinical and genetic study of a large Charcot–Marie–Tooth type 2A family from southern Italy

A. Quattrone, V. Timmerman, M. Muglia, 2001, Neurology.

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

A. Quattrone, M. Muglia, A. Gambardella, 2002, Journal of Neurology.

Gene conversion events in adult‐onset spinal muscular atrophy

M. Muglia, A. Labate, M. Zappia, 2004, Acta neurologica Scandinavica.

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

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

A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.

A. Federico, A. Quattrone, M. Muglia, 2001, Archives of neurology.

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

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

Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, S. Züchner, J. Vance, 2004, Nature 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.

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, S. Züchner, J. Vance, 2004, Nature Genetics.

A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy

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

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy

A. Tessitore, G. Tedeschi, G. Majorana, 2008, Neuromuscular Disorders.

Charcot‐Marie‐Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families

M. Muglia, G. Vita, A. Mazzeo, 2008, Acta neurologica Scandinavica.

A review of the antimicrobial potential of herbal drugs used in popular Italian medicine (1850s-1950s) to treat bacterial skin diseases.

Marco Leonti, M. Leonti, G. Tagarelli, 2019, Journal of ethnopharmacology.

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis

A. Quattrone, M. Muglia, G. Di Iorio, 2002, Journal of Neurology.

NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders

F. Cavalcanti, M. Muglia, S. Cavallaro, 2018, Current genomics.

CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene

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

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

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

Juvenile Huntington’s disease presenting as progressive myoclonic epilepsy

M. Muglia, A. Gambardella, A. Labate, 2001, Neurology.

Charcot‐Marie‐Tooth type X: unusual phenotype of a novel CX32 mutation

M. Muglia, G. Vita, A. Mazzeo, 2008, European journal of neurology.

A Simple Method for Diagnosis of Autosomal Recessive Spinal Muscular Atrophy by Denaturing High-Performance Liquid Chromatography

A. Quattrone, M. Muglia, F. Conforti, 2003, Journal of child neurology.

Mutation analysis of the MECP2 gene in patients with Rett syndrome

A. Quattrone, M. Muglia, F. Conforti, 2002, American journal of medical genetics. Part A.

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

K. Longo, M. Mancuso, A. Quattrone, 2006, Neuromuscular Disorders.

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.

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.

Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis

A. Quattrone, M. Muglia, F. Conforti, 2004, Muscle & nerve.

A longitudinal observation of Brain-Derived Neurotrophic Factor mRNA levels in patients with Relapsing–Remitting Multiple Sclerosis

F. Fera, A. Cerasa, M. C. Gioia, 2009, Brain Research.

A rare association between multiple sclerosis and Charcot‐Marie‐Tooth type 1B

M. Muglia, I. Simone, S. Zoccolella, 2016, Brain and behavior.

A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy

A. Quattrone, D. Pareyson, M. Muglia, 2009, BMJ Case Reports.

A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)

A. Quattrone, M. Muglia, C. Bergmann, 2004, Neurology.

A novel mutation in the Notch3 gene in an Italian family with CADASIL

A. Federico, N. Stefano, M. Muglia, 2001 .

Gene symbol: NOTCH3.

A. Quattrone, M. Muglia, F. Conforti, 2007, Human genetics.

An Axon Regeneration Signature in a Charcot-Marie-Tooth Disease Type 2 Patient

F. Cavalcanti, A. Quattrone, T. Kidd, 2009, Journal of neurogenetics.

Mutation and Polymorphism Report

M. Muglia, C. Rodolico, A. Quattrone, 1999 .

Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation

P. Spadafora, E. Ferlazzo, U. Aguglia, 2016, Neurological Sciences.

Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis

A. Federico, A. Quattrone, A. Malandrini, 2008, Brain and Development.

Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype

A. Malandrini, A. Federico, M. Muglia, 2005, Neurology.

Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci

M. Gaeta, M. Muglia, S. Messina, 2005, Neurological Sciences.

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, Y. Parman, M. Muglia, 2004, Nature Genetics.

LETTERS TO THE EDITOR AMYLOID POLYNEUROPATHY FOLLOWING DOMINO LIVER TRANSPLANTATION

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

Plants in Menstrual Diseases: A Systematic Study from Italian Folk Medicine on Current Approaches

A. Magariello, R. Mazzei, A. Patitucci, 2024, Plants.

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.