MANDICH , Paola

Last name: MANDICH

First name: Paola

2011 (v1)

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HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients

CAPPONI, SIMONA GEROLDI, ALESSANDRO FOSSA, PAOLA

Mutations in the small heat-shock protein 27 kDa protein 1 (HSPB1) and 22 kDa protein 8 (HSPB8) genes were associated with distal hereditary motor neuropathy (dHMN) and with the axonal form of Charcot-Marie-Tooth disease type 2 (CMT2). Here we report the clinical and molecular evaluation of an Italian dHMN and CMT2 cohort to establish HSPB1 and...

Uploaded on: March 31, 2023
2005 (v1)

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Cancer genetic counselling

MANDICH, PAOLA P. CAVALLI B. PASINI

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Uploaded on: April 14, 2023
2012 (v1)

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T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype.

ORIGONE, PAOLA VERDIANI, SIMONETTA CICHERO, ELENA

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Uploaded on: April 14, 2023
2015 (v1)

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Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results.

MANDICH, PAOLA Mantero, V VERDIANI, SIMONETTA

Rapid advances in the genetics of amyotrophic lateral sclerosis (ALS) have dramatically changed the approach of clinicians and researchers to the motor neuron diseases. We report two siblings in whom the genetic study provided conflicting results, hence raising a number of issues which deserve to be considered by clinicians involved in genetic...

Uploaded on: April 14, 2023
2013 (v1)

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Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling.

ORIGONE, PAOLA VERDIANI, SIMONETTA BELLONE, EMILIA

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Uploaded on: April 14, 2023
2012 (v1)

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Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation.

ORIGONE, PAOLA CICHERO, ELENA FOSSA, PAOLA

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Uploaded on: April 14, 2023
1991 (v1)

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Genetic analysis of Huntington disease in Italy.

AJMAR, FRANCO MANDICH, PAOLA BELLONE, EMILIA

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Uploaded on: April 14, 2023
1991 (v1)

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Polymerase chain reaction (PCR) amplification of hypervariable genomic sequences.

MANDICH, PAOLA BELLONE, EMILIA AJMAR, FRANCO

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Uploaded on: March 31, 2023
2009 (v1)

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AN IN VITRO MODEL OF MYELIN PROTEIN ZERO MUTATIONS IN SCHWANN CELLS

GRANDIS, MARINA PASSALACQUA, MARIO LUZZI, PAOLA

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Uploaded on: March 31, 2023
2010 (v1)

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Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling.

ORIGONE, PAOLA BELLONE, EMILIA MANCARDI, GIOVANNI LUIGI

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Uploaded on: April 14, 2023
2011 (v1)

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GAIN OR LOSS OF GLYCOSYLATION: THE SWEET SIDE OF MYELIN PROTEIN ZERO

Prada V. Bono M. Shy M. E.

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Uploaded on: March 31, 2023
2014 (v1)

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Pharmacogenetics and future therapeutic scenarios: what affects the prediction of response to treatment with etanercept?

MURDACA, GIUSEPPE MANDICH, PAOLA PUPPO, FRANCESCO

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Uploaded on: March 27, 2023
1991 (v1)

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Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers.

BELLONE, EMILIA MANDICH, PAOLA AJMAR, FRANCO

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Uploaded on: March 31, 2023
2016 (v1)

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Genetic factors and systemic sclerosis

MURDACA, GIUSEPPE CONTATORE, MIRIAM GULLI, ROSSELLA

Systemic sclerosis (SSc) is a rare connective tissue disease of unknown etiology characterized by chronic inflammation and fibrosis of the skin, vascular abnormalities, and variable involvement of organs including kidneys, gastrointestinal tract, heart, and lungs. SSc shows a complex etiology in which both environmental and genetic factors seem...

Uploaded on: April 14, 2023
1992 (v1)

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Charcot-Marie-Tooth disease: evidence of a duplication at D17S122 locus.

MANDICH, PAOLA BELLONE, EMILIA UCCELLI, ANTONIO

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Uploaded on: March 31, 2023
2009 (v1)

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Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

MANDICH, PAOLA FOSSA, PAOLA CAPPONI, SIMONA

Mutations in the myelin protein zero (MPZ) gene have been associated with different Charcot–Marie– Tooth disease (CMT) phenotypes, including classical demyelinating CMT1B and the axonal form of the disease (CMT2). The MPZ role in the pathogenesis of both demyelinating and axonal inherited neuropathies was evaluated in the Italian population by...

Uploaded on: April 14, 2023
1996 (v1)

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Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease.

MANDICH, PAOLA DI MARIA, EMILIO BELLONE, EMILIA

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Uploaded on: March 31, 2023
2013 (v1)

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The FIG4 gene does not play a major role in causing ALS in Italian patients.

VERDIANI, SIMONETTA ORIGONE, PAOLA GEROLDI, ALESSANDRO

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Uploaded on: March 27, 2023
2015 (v1)

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Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype.

ORIGONE, PAOLA VERDIANI, SIMONETTA LAMP, MERIT

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Uploaded on: April 14, 2023
1997 (v1)

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Intracortical inhibition and facilitation are abnormal in Huntington's disease: a paired magnetic stimulation study.

ABBRUZZESE, GIOVANNI TROMPETTO, CARLO MANDICH, PAOLA

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Uploaded on: December 5, 2022
2008 (v1)

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Gene symbol: GNE. Disease: Inclusion body myopathy.

Bruno C Cassandrini D GRANDIS, MARINA

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Uploaded on: October 11, 2023
1988 (v1)

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Variant Philadelphia translocations in CML: correlation with fragile sites.

SESSAREGO, MARIO R. Defferrari C. Panarello

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Uploaded on: April 14, 2023
2006 (v1)

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Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT).

VARESE M. ACQUAVIVA A. GEROLDI

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Uploaded on: May 13, 2023
2009 (v1)

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Germline mutations in the von Hippel-Lindau gene in Italian patients.

P. Ciotti GARUTI, ANNA R. Gulli

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Uploaded on: May 13, 2023

MANDICH , Paola

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