M. Mostacciuolo

发表

Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot–Marie–Tooth Disease

G. Bergamin, F. Boaretto, C. Briani, 2014, NeuroMolecular Medicine.

Epidemiology of myotonic dystrophy in Italy: re‐apprisal after genetic diagnosis

C. Angelini, G. Siciliano, M. Mostacciuolo, 2001, Clinical genetics.

Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder

S. Bortoluzzi, A. Coppe, G. Vazza, 2018, Molecular Neurobiology.

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites

M. Paoletti, F. Boaretto, G. Vazza, 2014, Carbohydrate polymers.

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

E. Hoffman, C. Angelini, M. Mostacciuolo, 1997, Journal of medical genetics.

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.

G. Danieli, M. Mostacciuolo, L. Vitiello, 1992, Human molecular genetics.

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

F. Boaretto, A. Martinuzzi, M. Mostacciuolo, 2003, Neurology.

Novel missense mutation of the connexin32 (GJB1) gene in X‐linked dominant charcot‐marie‐tooth neuropathy

M. Mostacciuolo, F. Schiavon, C. Fracasso, 1996, Human mutation.

Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.

D. Corrado, G. Thiene, C. Basso, 2015, The American journal of cardiology.

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.

R. Rizzuto, F. Boaretto, M. Muglia, 2016, Human molecular genetics.

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants

C. Angelini, A. Cagnin, F. Boaretto, 2014, Neurobiology of Aging.

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

A. Monaco, S. Cochrane, N. Haites, 1994, Human molecular genetics.

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

M. Mostacciuolo, L. Merlini, A. Rampazzo, 1998, Human mutation.

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review

M. Mostacciuolo, E. Giustina, F. Pisani, 2011, Journal of child neurology.

Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy

G. Bergamin, A. Vettori, G. Vazza, 2011, Neuromuscular Disorders.

A novel out-of-frame mutation in the neurofilament light chain gene ( NEFL) does not result in Charcot-Marie-Tooth disease type 2E

C. Angelini, G. Siciliano, E. Pegoraro, 2005, Neurogenetics.

A novel SACS mutation results in non‐ataxic spastic paraplegia and peripheral neuropathy

S. Tosatto, F. Boaretto, E. Pegoraro, 2013, European journal of neurology.

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset

G. Vazza, M. Mostacciuolo, L. Merlini, 2006, Neuromuscular Disorders.

Charcot‐Marie‐Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

G. Siciliano, M. Mostacciuolo, F. Taroni, 2001, Human mutation.

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

N. Bresolin, F. Boaretto, A. Martinuzzi, 2009, Journal of Medical Genetics.

Co-segregation of LMNA and PMP22 gene mutations in the same family

C. Angelini, E. Pegoraro, M. Mostacciuolo, 2005, Neuromuscular Disorders.

Duchenne muscular dystrophy. A population study.

G. Danieli, C. Angelini, M. Mostacciuolo, 1977, Human 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.

Duchenne muscular dystrophy

G. Danieli, C. Angelini, M. Mostacciuolo, 2004, Human Genetics.

A novel missense mutation in the L1CAM gene in a boy with L1 disease

F. Boaretto, A. Vettori, M. Mostacciuolo, 2006, Neurological Sciences.

Correlation between clinical and molecular features in two MELAS families

S. Dimauro, R. Carrozzo, C. Angelini, 1992, Journal of the Neurological Sciences.

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

C. Angelini, M. Mostacciuolo, P. Perini, 1996, Human Genetics.

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

F. Boaretto, G. Vazza, M. Mostacciuolo, 2016, The Journal of molecular diagnostics : JMD.

Novel mutation of the mitofusin 2 gene in a family with Charcot–Marie–Tooth disease type 2

M. Lucchetta, G. Bergamin, F. Boaretto, 2014, Muscle & nerve.

Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.

M. Mostacciuolo, A. Mazzeo, L. Arning, 2013, Molecular and cellular probes.

Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma

A. Vettori, M. Mostacciuolo, L. Vitiello, 2003, Clinical endocrinology.

Detection of unknown gene mutations by multiplex single-strand conformation polymorphism (MSSCP).

G. Danieli, M. Mostacciuolo, L. Vitiello, 1993, PCR methods and applications.

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

X. Estivill, E. Mariman, N. Archidiacono, 1996, European journal of human genetics : EJHG.

Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene

M. Rietschel, G. Danieli, K. Zerres, 1992, Neuromuscular Disorders.

Sporadic cases in Duchenne muscular dystrophy

G. Danieli, M. Mostacciuolo, F. Herrmann, 1987, Human Genetics.

Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26

F. Boaretto, A. Vettori, G. Vazza, 2007, Molecular Psychiatry.

Problems in genetic counseling in a family with an "atypical" centronuclear myopathy.

G. Danieli, M. Mostacciuolo, T. Grimm, 1989, American journal of medical genetics.

M. Mostacciuolo, A. Pini, A. Simonati, 2001, Journal of neurology, neurosurgery, and psychiatry.

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

G. Danieli, C. Angelini, G. Siciliano, 1994, Journal of medical genetics.

Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis.

G. Danieli, M. Mostacciuolo, L. Merlini, 1998, American journal of medical genetics.

Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder

S. Bortoluzzi, A. Coppe, G. Vazza, 2018, Molecular Neurobiology.

A locus for migraine without aura maps on chromosome 14q21.2-q22.3.

D. Soragna, E. Marchioni, R. Tupler, 2003, American journal of human genetics.

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

G. Danieli, C. Angelini, M. Mostacciuolo, 1992, Journal of medical genetics.

Loss-of-function mutations in the SIGMAR 1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca 2 1 signalling

R. Rizzuto, F. Boaretto, M. Muglia, 2016 .

Detection of Heterozygotes for Intragenic Deletions in Families with Recurrence of Duchenne or Becker Muscular Dystrophy

G. Danieli, M. Mostacciuolo, L. Vitiello, 2007 .

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

A. Monaco, K. Fischbeck, S. Cochrane, 1994, Journal of medical genetics.

Novel loss‐of‐function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia

D. Pareyson, F. Boaretto, C. Briani, 2015, Muscle & nerve.

Population data on benign and severe forms of X-linked muscular dystrophy

C. Angelini, G. Danieli, C. Angelini, 1987, Human Genetics.

Novel mutations and polymorphisms in the human dystrophin gene detected by double‐strand conformation analysis

G. Danieli, C. Angelini, M. Mostacciuolo, 1997, Human mutation.

Genetic epidemiology ofmuscular dystrophies resulting fromsarcoglycan genemutations

C. Angelini, M. Mostacciuolo, G. Soraru', 1997 .

Patterns of deletions of the dystrophin gene in different European populations

M. Mostacciuolo, L. Vitiello, T. Grimm, 1993, Human Genetics.

Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

G. Lanfranchi, C. Angelini, A. Vettori, 2009, BMC medicine.

SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2 SPLICING MUTATION

F. Boaretto, A. Martinuzzi, M. Muglia, 2010, Neurology.

Clinical and genetic characterization of an Italian family with slow-channel syndrome

C. Angelini, G. Vazza, M. Mostacciuolo, 2018, Neurological Sciences.

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

N. Bresolin, G. Comi, A. Trabacca, 2006, Archives of neurology.

Genetic epidemiology of hereditary motor sensory neuropathies (type I).

G. Danieli, M. Mostacciuolo, P. Fardin, 1991, American journal of medical genetics.

Zebrafish Tg(hb9:MTS-Kaede): a new in vivo tool for studying the axonal movement of mitochondria.

G. Bergamin, G. Vazza, M. Mostacciuolo, 2016, Biochimica et biophysica acta.

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

F. Boaretto, G. Vazza, M. Mostacciuolo, 2000, American journal of human genetics.

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

D. Corrado, G. Thiene, C. Basso, 2013, European Journal of Human Genetics.

A linkage study in a large family by using 12 probes of the pericentromeric region

G. Danieli, G. Camerino, B. Bardoni, 1991 .

X-linked Charcot-Marie-Tooth disease

G. Danieli, G. Camerino, B. Bardoni, 2005, Human Genetics.

Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1

M. Armani, A. Vettori, G. Vazza, 2002, Journal of medical genetics.

Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder

A. Vettori, G. Vazza, M. Mostacciuolo, 2011, Journal of Human 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, 2009, BMJ Case Reports.

Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot–Marie–Tooth Disease

G. Bergamin, F. Boaretto, C. Briani, 2014, NeuroMolecular Medicine.

Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy.

G. Danieli, C. Angelini, M. Mostacciuolo, 1994, American journal of medical genetics.

A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron

G. Danieli, C. Angelini, M. Mostacciuolo, 1994, Human Genetics.

Cardiac involvement in Becker muscular dystrophy.

G. Danieli, C. Angelini, E. Pegoraro, 1993, Journal of the American College of Cardiology.

Carbohydrate Polymers

M. Paoletti, F. Boaretto, G. Vazza, 2011 .

Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1.

G. Danieli, C. Angelini, M. Mostacciuolo, 1995, Neuroepidemiology.

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north‐east Italian population sample

C. Angelini, G. Vazza, M. Mostacciuolo, 2009, Clinical genetics.

Familial epilepsy and developmental dysphasia: Description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci

A. Scabar, R. Michelucci, C. Tassinari, 2008, Epilepsy Research.

Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

G. Lanfranchi, C. Angelini, A. Vettori, 2009, BMC medicine.

A novel SACS mutation results in non‐ataxic spastic paraplegia and peripheral neuropathy

Silvio C. E. Tosatto, S. Tosatto, F. Boaretto, 2013, European journal of neurology.

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.

R. Rizzuto, F. Boaretto, M. Muglia, 2016, Human molecular genetics.

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review

M. Mostacciuolo, E. Giustina, F. Pisani, 2011, Journal of child neurology.

Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28.

S. Picelli, G. Vazza, M. Mostacciuolo, 2003, Gene.

Novel mutations in the L1CAM gene support the complexity of L1 syndrome

F. Boaretto, G. Vazza, M. Mostacciuolo, 2010, Journal of the Neurological Sciences.