M. Ferrarini

发表

Giant axon and neurofilament accumulation in Charcot–Marie–Tooth disease type 2E

C. Angiari, N. Rizzuto, G. Fabrizi, 2004, Neurology.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy and Right-to-Left Shunt: Lack of Evidence for an Association in a Prevalence Study

G. Anzola, N. Rizzuto, G. Fabrizi, 2008, European Neurology.

Expanding the spectrum of genes responsible for hereditary motor neuropathies

M. Devoto, D. Lazarević, G. Comi, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

Nerve size correlates with clinical severity in Charcot–Marie–Tooth disease 1A

Stefano Tamburin, G. Zanette, G. Fabrizi, 2019 .

Nerve size correlates with clinical severity in CMT1A.

Stefano Tamburin, G. Zanette, G. Fabrizi, 2019, Muscle & nerve.

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

P. Rossini, M. Sabatelli, G. Fabrizi, 2016, Clinical Neurology and Neurosurgery.

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

G. Malerba, G. Fabrizi, M. Ferrarini, 2012, Journal of the Neurological Sciences.

Charcot–Marie–Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

A. Mazzeo, A. Toscano, G. Fabrizi, 2015, Neurological Sciences.

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization

N. Rizzuto, G. Fabrizi, T. Cavallaro, 2007, Journal of the Neurological Sciences.

SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs

M. Sabatelli, A. Conte, M. Ferrarini, 2010, Muscle & nerve.

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

P. Tonali, G. Tasca, M. Sabatelli, 2010, Journal of the Neurological Sciences.

A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B

A. Polo, N. Rizzuto, G. Fabrizi, 2001, Neurology.

Variable presentations of TTR‐related familial amyloid polyneuropathy in seventeen patients

C. Briani, G. Merlini, G. Fabrizi, 2011, Journal of the peripheral nervous system : JPNS.

Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags

C. Briani, M. Cacciavillani, R. Gasparotti, 2020, Journal of the peripheral nervous system : JPNS.

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center

G. Vita, A. Mazzeo, A. Toscano, 2020, Neurological Sciences.

Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I

L. Nobbio, A. Armirotti, G. Fabrizi, 2019, Neurology: Genetics.

Rare among Rare: Phenotypes of Uncommon CMT Genotypes

A. Mazzeo, C. Rodolico, A. Toscano, 2021, Brain sciences.

Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation

T. Cavallaro, M. Ferrarini, A. Uncini, 2004, Clinical Neurophysiology.

Vascular endothelial growth factor helps differentiate neuropathies in rare plasma cell dyscrasias

C. Briani, G. Fabrizi, T. Cavallaro, 2011, Muscle & nerve.

Two novel mutations in dynamin-2 cause axonal Charcot–Marie–Tooth disease

R. Cerini, N. Rizzuto, G. Fabrizi, 2007, Neurology.

Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene

L. Trojano, G. Fabrizi, M. Ferrarini, 2006, Neurological Sciences.

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

RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy

G. Fabrizi, T. Cavallaro, M. Ferrarini, 2021, Journal of Neurology.

Glycan-independent Role of Calnexin in the Intracellular Retention of Charcot-Marie-Tooth 1A Gas3/PMP22 Mutants*

E. Snapp, C. Brancolini, M. Ferrarini, 2005, Journal of Biological Chemistry.

A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.

S. Pappatà, A. Filla, A. Padovani, 2014, Journal of Alzheimer's disease : JAD.

Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series

M. Rocca, B. Colombo, G. Fabrizi, 2022, Journal of Neurology.

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review

G. Cantalupo, B. Bernardina, A. Simonati, 2016, Seizure.

Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry

L. Santoro, A. Quattrone, L. Padua, 2023, European journal of neurology.

Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype

G. Fabrizi, L. Bertolasi, I. Cabrini, 2012, Journal of the peripheral nervous system.

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

G. Malerba, M. Ferrarini, L. Pradotto, 2012, Journal of the Neurological Sciences.