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MOSTACCIUOLO, MARIA LUISA

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Pubblicazioni (Tutti)

Risultati 1 - 20 di 98 (tempo di esecuzione: 0.001 secondi).

	Titolo	Data di pubblicazione	Autori	Rivista	Titolo libro
1	Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder	2018	SALVORO, CECILIA ; BORTOLUZZI, STEFANIA ; COPPE, ALESSANDRO ; VALLE, GIORGIO ; FELTRIN, ERIKA ; MOSTACCIUOLO, MARIA LUISA ; VAZZA, GIOVANNI	MOLECULAR NEUROBIOLOGY
2	Clinical and genetic characterization of an Italian family with slow-channel syndrome	2018	ANGELINI, CORRADO ; Lispi, Ludovico; SALVORO, CECILIA ; MOSTACCIUOLO, MARIA LUISA ; VAZZA, GIOVANNI	NEUROLOGICAL SCIENCES
3	Abstracts of the XXIII rd World Congress of Psychiatric Genetics (WCPG): Poster abstracts	2017	SALVORO, CECILIA ; CAMPANELLI, CARLO ; FINOS, LIVIO ; VALLE, GIORGIO ; MOSTACCIUOLO, MARIA LUISA ; BORTOLUZZI, STEFANIA ; VAZZA, GIOVANNI	EUROPEAN NEUROPSYCHOPHARMACOLOGY
4	Zebrafish Tg(hb9:MTS-Kaede): A new in vivo tool for studying the axonal movement of mitochondria	2016	BERGAMIN, GIORGIA ; CIERI, DOMENICO ; VAZZA, GIOVANNI ; ARGENTON, FRANCESCO ; MOSTACCIUOLO, MARIA LUISA	BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
5	Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients	2016	BOARETTO, FRANCESCA ; SNIJDERS, DEBORAH ; SALVORO, CECILIA ; Spalletta, Ambra; MOSTACCIUOLO, MARIA LUISA ; Collura, Mirella; Cazzato, Salvatore; Girosi, Donatella; Silvestri, Michela; Rossi, Giovanni Arturo; BARBATO, ANGELO ; VAZZA, GIOVANNI	THE JOURNAL OF MOLECULAR DIAGNOSTICS
6	Homozygous desmocollin-2 mutations and arrhythmogenic cardiomyopathy	2015	DE BORTOLI, MARZIA ; PILICHOU, KALLIOPI ; Rigato, Ilaria; VAZZA, GIOVANNI ; De Bortoli, Marzia; Calore, Martina; OCCHI, GIANLUCA ; Carturan, Elisa; Lazzarini, Elisabetta; Cason, Marco; Mazzotti, Elisa; Poloni, Giulia; MOSTACCIUOLO, MARIA LUISA ; DALIENTO, LUCIANO ; THIENE, GAETANO ; CORRADO, DOMENICO ; BASSO, CRISTINA ; BAUCE, BARBARA ; RAMPAZZO, ALESSANDRA	THE AMERICAN JOURNAL OF CARDIOLOGY
7	High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites	2014	MANNO, NICOLA ; Sam Sherratt; BOARETTO, FRANCESCA ; Freddy Mejìa Coico; Carolina Espinoza Camus; Cesar Jara Campos; Salvatore Musumeci; BATTISTI, ANDREA ; Rupert J. Quinnell; José Mostacero Leon; VAZZA, GIOVANNI ; MOSTACCIUOLO, MARIA LUISA ; PAOLETTI, MAURIZIO ; Franco H. Falcone	CARBOHYDRATE POLYMERS
8	Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.	2013	Li Mura IE; BAUCE, BARBARA ; NAVA, ANDREA ; Fanciulli M; VAZZA, GIOVANNI ; Mazzotti E; Rigato I; De Bortoli M; BEFFAGNA, GIORGIA ; Lorenzon A; Calore M; Dazzo E; Nobile C; MOSTACCIUOLO, MARIA LUISA ; CORRADO, DOMENICO ; BASSO, CRISTINA ; DALIENTO, LUCIANO ; THIENE, GAETANO ; RAMPAZZO, ALESSANDRA	EUROPEAN JOURNAL OF HUMAN GENETICS
9	Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.	2013	Gerding WM; Koetting J; Rey LP; Bibas Bonet H; Abdala ME; Mazzeo A; MOSTACCIUOLO, MARIA LUISA ; Arning L; Carrero Valenzuela R.	MOLECULAR AND CELLULAR PROBES
10	A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.	2013	GREGIANIN, ELISA ; VAZZA, GIOVANNI ; Scaramel E; BOARETTO, FRANCESCA ; VETTORI, ANDREA ; LEONARDI, EMANUELA ; TOSATTO, SILVIO ; Manara R; PEGORARO, ELENA ; MOSTACCIUOLO, MARIA LUISA	EUROPEAN JOURNAL OF NEUROLOGY
11	NOVEL MUTATION OF THE MITOFUSIN 2 GENE IN A FAMILY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 2A	2012	BERGAMIN, GIORGIA ; C. Dalla Torre; M. Lucchetta; M. Campagnolo; CACCIAVILLANI, MARIO ; BOARETTO, FRANCESCA ; MOSTACCIUOLO, MARIA LUISA ; BRIANI, CHIARA	JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
12	CLINICAL AND ELECTROPHYSIOLOGICAL SPECTRUM IN A GROUP OF SPORADIC DISTAL MOTOR NEUROPATHIES	2012	EC Ienco; C. Carlesi; C. Simoncini; A. LoGerfo; S. Piazza; BOARETTO, FRANCESCA ; MOSTACCIUOLO, MARIA LUISA ; G. Siciliano	JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
13	The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C>T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review.	2011	FUSCO C; UCCHINO V; BARBON G; BONINI E; MOSTACCIUOLO, MARIA LUISA ; FRATTINI D; PISANI F; GIUSTINA ED	JOURNAL OF CHILD NEUROLOGY
14	Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.	2011	BERTOLIN, CINZIA ; Magri C; Barlati S; VETTORI, ANDREA ; PERINI, GIULIA ; Peruzzi P; MOSTACCIUOLO, MARIA LUISA ; VAZZA, GIOVANNI	JOURNAL OF HUMAN GENETICS
15	Mfn2 knockdown causes neuromuscular alterations during zebrafish (danio rerio) development: characterization and analysis of a new model for charcot-marie-tooth type 2a neuropathy.	2011	BERGAMIN, GIORGIA ; VETTORI, ANDREA ; MORO, ENRICO ; VAZZA, GIOVANNI ; TISO, NATASCIA ; Polo G; ARGENTON, FRANCESCO ; MOSTACCIUOLO, MARIA LUISA	JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
16	MFN2 KNOCKDOWN CAUSES NEUROMUSCULAR ALTERATIONS DURING ZEBRAFISH (DANIO RERIO) DEVELOPMENT: CHARACTERIZATION AND ANALYSIS OF A NEW MODEL FOR CHARCOT-MARIE-TOOTH TYPE 2A NEUROPATHY	2011	BERGAMIN, GIORGIA ; VETTORI, ANDREA ; MORO, ENRICO ; VAZZA, GIOVANNI ; TISO, NATASCIA ; ARGENTON, FRANCESCO ; MOSTACCIUOLO, MARIA LUISA	JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM	Journal of the Peripheral Nervous System
17	Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy	2011	VETTORI, ANDREA ; BERGAMIN, GIORGIA ; MORO, ENRICO ; VAZZA, GIOVANNI ; POLO G; TISO, NATASCIA ; ARGENTON, FRANCESCO ; MOSTACCIUOLO, MARIA LUISA	NEUROMUSCULAR DISORDERS
18	Neurogenetica	2010	PEGORARO, ELENA ; MOSTACCIUOLO, MARIA LUISA		Neurologia Clinica
19	Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.	2010	BOARETTO, FRANCESCA ; VETTORI, ANDREA ; CASARIN A; VAZZA, GIOVANNI ; MUGLIA M; ROSSETTO MG; CAVALLARO T; RIZZUTO N; CARELLI V; SALVIATI, LEONARDO ; MOSTACCIUOLO, MARIA LUISA ; MARTINUZZI A.	NEUROLOGY
20	A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.	2009	Muglia M; VAZZA, GIOVANNI ; Patitucci A; Milani M; Pareyson D; Taroni F; Quattrone A; MOSTACCIUOLO, MARIA LUISA	BMJ CASE REPORT

Dettaglio

Nome completo:

MOSTACCIUOLO, MARIA LUISA

struttura:

Dipartimento di Biologia (DiBio)

settore SSD:

Settore BIO/13 - Biologia Applicata

Varianti:

Maria L Mostacciuolo
Luisa Mostacciuolo M
M. MOSTACCIUOLO
MOSTACCIUOLO M
MOSTACCIOLO ML
Mostacciuolo ML
ML.MOSTACCIUOLO