Publications by authors named "Maria E Conidi"

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A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family.
Francesco Bruno, Maria Elena Conidi, Gianfranco Puccio, Francesca Frangipane, Valentina Laganà

Front Genet· November 2021

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, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.
Beatrice Costa, Claudia Manzoni, Manuel Bernal-Quiros, Demis A Kia, Miquel Aguilar, Maria E Conidi

Neurology· December 2020

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Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia.
Raffaele Maletta, Nicoletta Smirne, Livia Bernardi, Maria Anfossi, Maura Gallo, Maria Elena Conidi

J Alzheimers Dis· January 2019

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Role of Niemann-Pick Type C Disease Mutations in Dementia.
Chiara Cupidi, Francesca Frangipane, Maura Gallo, Alessandra Clodomiro, Rosanna Colao, Maria Elena Conidi

J Alzheimers Dis· February 2018

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The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.
Maura Gallo, Francesca Frangipane, Chiara Cupidi, Matteo De Bartolo, Sabina Turone, Maria Elena Conidi

Neurobiol Aging· August 2017

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Angela R.: a familial Alzheimer's disease case in the days of Auguste D.
Laura Borrello, Chiara Cupidi, Valentina Laganà, Maria Anfossi, Maria Elena Conidi

J Neurol· December 2016

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Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
Maria E Conidi, Livia Bernardi, Gianfranco Puccio, Nicoletta Smirne, Maria G Muraca

Neurology· June 2015

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Genetics in degenerative dementia: current status and applicability.
Amalia C Bruni, Maria E Conidi, Livia Bernardi

Alzheimer Dis Assoc Disord· April 2015

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Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome.
Livia Bernardi, Chiara Cupidi, Francesca Frangipane, Maria Anfossi, Maura Gallo, Maria Elena Conidi

Neurobiol Aging· November 2014

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Frontotemporal dementia and its subtypes: a genome-wide association study.
Raffaele Ferrari, Dena G Hernandez, Michael A Nalls, Jonathan D Rohrer, Adaikalavan Ramasamy, Maria Elena Conidi

Lancet Neurol· July 2014

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Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation.
Livia Bernardi, Maura Gallo, Maria Anfossi, Maria Elena Conidi, Rosanna Colao

J Alzheimers Dis· April 2014

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Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.
Livia Bernardi, Francesca Frangipane, Nicoletta Smirne, Rosanna Colao, Gianfranco Puccio, Maria Elena Conidi

Neurobiol Aging· December 2012

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A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.
Selina Piazza, Fulvia Baldinotti, Antonella Fogli, Maria Elena Conidi, Angela Michelucci

Neuromuscul Disord· December 2010

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Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
Angela Michelucci, Paolo Ghirri, Paola Iacopetti, Maria Elena Conidi, Antonella Fogli

Int J Pediatr Otorhinolaryngol· December 2010

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Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Antonella Fogli, Roberta Battini, Fulvia Baldinotti, Maria Elena Conidi, Angela Michelucci

Hum Genet· August 2009

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Gene symbol: JAG1. Disease: Alagille syndrome.
Maria Elena Conidi, Angela Michelucci, Giuseppe Maggiore, Paolo Simi

Hum Genet· October 2008

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Gene symbol: JAG1. Disease: Alagille syndrome.
Maria Elena Conidi, Angela Michelucci, Giuseppe Maggiore, Paolo Simi

Hum Genet· October 2008

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Gene symbol: JAG1. Disease: Alagille syndrome.
Maria Elena Conidi, Angela Michelucci, Giuseppe Maggiore, Paolo Simi

Hum Genet· October 2008

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Gene symbol: CHD7. Disease: CHARGE syndrome.
Paolo Simi, Angela Michelucci, Paola Iacopetti, Silvia Pellegrini, Maria Elena Conidi

Hum Genet· June 2008

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