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51

Linkage mapping of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN V): preliminary results

M.L. Mostacciuolo, L. Rampoldi, F. Schiavon, E. Righetti, C. Angelini

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 135 KB

english, 1997

52

A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28

G. Vazza, M. Zortea, F. Boaretto, G.F. Micaglio, V. Sartori, M.L. Mostacciuolo

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 428 KB

english, 2000

53

A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3

D. Soragna, A. Vettori, G. Carraro, E. Marchioni, G. Vazza, S. Bellini, R. Tupler, F. Savoldi, M.L. Mostacciuolo

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 804 KB

english, 2003

54

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

Maria L. Mostacciuolo,Marta Miorin,Francesco Martinello…

Journal:

Year:

1996

Language:

english

File:

PDF, 351 KB

english, 1996

55

P.4.a.004 Panic disorder and photosensitivity

L. Bossini, L. Padula, M. Valdagno, W. Mostacciuolo, P. Castrogiovanni

Journal:

European Neuropsychopharmacology

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

56

Correlation between clinical and molecular features in two MELAS families

Andrea Martinuzzi, Luigi Bartolomei, Rosalba Carrozzo, Marialuisa Mostacciuolo, Costantino Carbonin, Vito Toso, Emma Ciafaloni, Sara Shanske, Salvatore DiMauro, Corrado Angelini

Journal:

Journal of the Neurological Sciences

Year:

1992

Language:

english

File:

PDF, 911 KB

english, 1992

57

Cardiac involvement in becker muscular dystrophy

Paola Melacini, Marina Fanin, Gian Antonio Danieli, Giuseppe Fasoli, Carla Villanova, Corrado Angelini, Libero Vitiello, Manuela Miorelli, Gian Franco Buja, Maria Luisa Mostacciuolo, Elena Pegoraro, S

Journal:

Journal of the American College of Cardiology

Year:

1993

Language:

english

File:

PDF, 1.44 MB

english, 1993

58

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

Cinzia Bertolin, Francesca Boaretto, Giovanni Barbon, Leonardo Salviati, Elisabetta Lapi, Maria Teresa Divizia, Livia Garavelli, Gianluca Occhi, Giovanni Vazza, Maria Luisa Mostacciuolo

Journal:

Journal of the Neurological Sciences

Year:

2010

Language:

english

File:

PDF, 279 KB

english, 2010

59

Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

Mostacciuolo, M.L., Danieli, G.A., Trevisan, C., M&uuml, ller, E., Angelini, C.

Journal:

Neuroepidemiology

Year:

1992

File:

PDF, 578 KB

1992

60

OBITUARY

Zaza, Antonio, Chisci, Riccardo, Rocchetti, Marcella, Mostacciuolo, Gaspare, Saturno, Grazia, Castoldi, Raffaella, Venturi, Miro, Redaelli, Cristina, Cipolla, Laura, Zaza, Antonio

Journal:

Year:

1932

Language:

english

File:

PDF, 203 KB

english, 1932

61

Modulation Of Cardiac Contractility By Antagonism Of Pleckstrin-homology Domain And Akt-1 Silencing

Zaza, Antonio, Chisci, Riccardo, Rocchetti, Marcella, Mostacciuolo, Gaspare, Saturno, Grazia, Castoldi, Raffaella, Venturi, Miro, Redaelli, Cristina, Cipolla, Laura, Zaza, Antonio

Journal:

Biophysical Journal

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

62

Table of Contents

Zaza, Antonio, Chisci, Riccardo, Rocchetti, Marcella, Mostacciuolo, Gaspare, Saturno, Grazia, Castoldi, Raffaella, Venturi, Miro, Redaelli, Cristina, Cipolla, Laura, Zaza, Antonio

Journal:

Advances in Chronic Kidney Disease

Year:

2011

Language:

english

File:

PDF, 75 KB

english, 2011

63

Prevention of Myocardial Remodeling by Chronic INaL Blockade in Pulmonary Hypertension

Rocchetti, Marcella, Rizzetto, Riccardo, Alemanni, Matteo, Sala, Luca, Barile, Lucio, Zambelli, Vanessa, Maggioni, Serena, Staszewsky, Lidia, Mostacciuolo, Gaspare, Latini, Roberto, Zaza, Antonio

Journal:

Biophysical Journal

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

64

Single- and multi-channel currents recorded with patch electrodes in mouse eggs

PERES, A, MOSTACCIUOLO, G

Journal:

Cell Biology International Reports

Year:

1987

Language:

english

File:

PDF, 378 KB

english, 1987

65

Action Potential Shape Differences Set Species-Dependent β-Adrenergic-Stimulation Response

Sala, Luca, Hegyi, Bence, Bartolucci, Chiara, Altomare, Claudia, Rocchetti, Marcella, Mostacciuolo, Gaspare, Severi, Stefano, Szentandrássy, Norbert, Nánási, Péter P., Zaza, Antonio

Journal:

Biophysical Journal

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

66

Ikr Impact on Repolarization and its Variability Assessed by Dynamic-Clamp

Altomare, Claudia, Sala, Luca, Bartolucci, Chiara, Mostacciuolo, Gaspare, Severi, Stefano, Zaza, Antonio

Journal:

Biophysical Journal

Year:

2014

Language:

english

File:

PDF, 42 KB

english, 2014

67

A novel mitofusin 2 MFN2 gene mutation causing early onset Charcot-Marie-Tooth 2A disease: Genetic, clinical and MR spectroscopy characterization

Vavla, M., Martinuzzi, A., Montanaro, D., Frijia, F., Aghakhanyan, G., Mostacciuolo, M.L., Carraro, E., Casanova, V.

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 72 KB

english, 2013

68

P.12.2 Dominant distal myopathy due to slow channelopathy

Angelini, C., Vazza, G., Mostacciuolo, M.L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

69

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

Gerding, Wanda Maria, Koetting, Judith, Rey, Lucía Paola, Bibas Bonet, Hilda, Abdala, Mirta Esther, Mazzeo, Anna, Mostacciuolo, Maria Luisa, Arning, Larissa, Carrero-Valenzuela, Roque

Journal:

Molecular and Cellular Probes

Year:

2013

Language:

english

File:

PDF, 463 KB

english, 2013

70

P.5.f.010 Evaluation of the treatment of elderly agitated patients:a preliminary study

Costoloni, G., Mostacciuolo, W., Di Volo, S., Bolognesi, S., Goracci, A., Fagiolini, A.

Journal:

European Neuropsychopharmacology

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

71

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

Saad, Fawzy A., Vitiello, Libero, Merlini, Luciano, Mostacciuolo, Maria L., Oliviero, Salvatore, Danieli, Gian A.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 563 KB

english, 1992

72

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

Gregianin, E., Vazza, G., Scaramel, E., Boaretto, F., Vettori, A., Leonardi, E., Tosatto, S. C. E., Manara, R., Pegoraro, E., Mostacciuolo, M. L.

Journal:

European Journal of Neurology

Year:

2013

Language:

english

File:

PDF, 623 KB

english, 2013

73

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

Bertolin, Cinzia, Magri, Chiara, Barlati, Sergio, Vettori, Andrea, Perini, Giulia Ida, Peruzzi, Pio, Mostacciuolo, Maria Luisa, Vazza, Giovanni

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 357 KB

english, 2011

74

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

Dalpozzo, F., Rossetto, M.G., Boaretto, F., Sartori, E., Mostacciuolo, M.L., Daga, A., Bassi, M.T., Martinuzzi, A.

Journal:

Year:

2003

Language:

english

File:

PDF, 152 KB

english, 2003

75

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

Schiavon, F, Mostacciuolo, M L, Saad, F, Merlini, L, Siciliano, G, Angelini, C, Danieli, G A

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 743 KB

english, 1994

76

A novel founder mutation in the MFN2 gene associated with variable Charcot Marie Tooth type 2 phenotype in two families from Southern Italy

Muglia, M, Vazza, G, Patitucci, A, Milani, M, Pareyson, D, Taroni, F, Quattrone, A, Mostacciuolo, M L

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2007

Language:

english

File:

PDF, 299 KB

english, 2007

77

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

Cochrane, S, Bergoffen, J, Fairweather, N D, Muller, E, Mostacciuolo, M L, Monaco, A P, Fischbeck, K H, Haites, N E

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 490 KB

english, 1994

78

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

Fusco, C., Ucchino, V., Barbon, G., Bonini, E., Mostacciuolo, M. L., Frattini, D., Pisani, F., Giustina, E. D.

Journal:

Journal of Child Neurology

Year:

2011

Language:

english

File:

PDF, 220 KB

english, 2011

79

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

Fanin, M, Duggan, D J, Mostacciuolo, M L, Martinello, F, Freda, M P, Soraru, G, Trevisan, C P, Hoffman, E P, Angelini, C

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.01 MB

english, 1997

80

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

Crippa, Francesca, Panzeri, Chris, Martinuzzi, Andrea, Arnoldi, Alessia, Redaelli, Francesca, Tonelli, Alessandra, Baschirotto, Cinzia, Vazza, Giovanni, Mostacciuolo, Maria Luisa, Daga, Andrea, Orso,

Journal:

Archives of Neurology

Year:

2006

Language:

english

File:

PDF, 168 KB

english, 2006

81

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

Crimella, C, Arnoldi, A, Crippa, F, Mostacciuolo, M L, Boaretto, F, Sironi, M, D'Angelo, M G., Manzoni, S, Piccinini, L, Turconi, A C, Toscano, A, Musumeci, O, Benedetti, S, Fazio, R, Bresolin, N, Dag

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 808 KB

english, 2009

82

Risperidone long-acting injection as monotherapy and adjunctive therapy in the maintenance treatment of bipolar I disorder

Fagiolini, Andrea, Casamassima, Francesco, Mostacciuolo, Wilmer, Forgione, Rocco, Goracci, Arianna, Goldstein, Benjamin I

Journal:

Expert Opinion on Pharmacotherapy

Year:

2010

Language:

english

File:

PDF, 323 KB

english, 2010

83

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

Fairweather, N., Bell, C., Cochrane, S., Chelly, J., Wang, S., L.Mostacciuolo, M., P.Monaco, A., E.Haites, N.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.72 MB

english, 1994

84

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

Fairweather, N., Bell, C., Cochrane, S., Chelly, J., Wang, S., Mostacciuolo, M.L., Monaco, A.P., Haites, N.E.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 44 KB

english, 1994

85

Frequency of Duplication at 17p11.2 in Families of Northeast Italy with Charcot-Marie-Tooth Disease Type 1

Mostacciuolo, M.L., Schiavon, F., Angelini, C., Miccoli, B., Piccolo, F., Danieli, G.A.

Journal:

Neuroepidemiology

Year:

1995

File:

PDF, 751 KB

1995

86

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

Boaretto, F., Vettori, A., Casarin, A., Vazza, G., Muglia, M., Rossetto, M. G., Cavallaro, T., Rizzuto, N., Carelli, V., Salviati, L., Mostacciuolo, M. L., Martinuzzi, A.

Journal:

Year:

2010

Language:

english

File:

PDF, 283 KB

english, 2010

87

Ranolazine prevents INaL enhancement and blunts myocardial remodelling in a model of pulmonary hypertension

Rocchetti, M., Sala, L., Rizzetto, R., Staszewsky, L. I., Alemanni, M., Zambelli, V., Russo, I., Barile, L., Cornaghi, L., Altomare, C., Ronchi, C., Mostacciuolo, G., Lucchetti, J., Gobbi, M., Latini,

Journal:

Cardiovascular Research

Year:

2014

Language:

english

File:

PDF, 1.51 MB

english, 2014

88

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

Manno, N., Sherratt, S., Boaretto, F., Coico, F. Mejìa, Camus, C. Espinoza, Campos, C. Jara, Musumeci, S., Battisti, A., Quinnell, R.J., León, J. Mostacero, Vazza, G., Mostacciuolo, M.L., Paoletti, M.

Journal:

Carbohydrate Polymers

Year:

2014

Language:

english

File:

PDF, 1.61 MB

english, 2014

89

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

Vitiello, L, Mostacciuolo, M L, Oliviero, S, Schiavon, F, Nicoletti, L, Angelini, C, Danieli, G A

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.09 MB

english, 1992

90

Modulation of Sarcoplasmic Reticulum Function by PST2744 [Istaroxime; (E,Z)-3-((2-Aminoethoxy)imino) Androstane-6,17-dione Hydrochloride)] in a Pressure-Overload Heart Failure Model

Rocchetti, M., Alemanni, M., Mostacciuolo, G., Barassi, P., Altomare, C., Chisci, R., Micheletti, R., Ferrari, P., Zaza, A.

Journal:

Journal of Pharmacology and Experimental Therapeutics

Year:

2008

Language:

english

File:

PDF, 478 KB

english, 2008

91

Prevalence of Inherited Ataxias in the Province of Padua, Italy

Zortea, M., Armani, M., Pastorello, E., Nunez, G.F., Lombardi, S., Tonello, S., Rigoni, M.T., Zuliani, L., Mostacciuolo, M.L., Gellera, C., Di Donato, S., Trevisan, C.P.

Journal:

Neuroepidemiology

Year:

2004

Language:

english

File:

PDF, 156 KB

english, 2004

92

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

Bergamin, Giorgia, Cieri, Domenico, Vazza, Giovanni, Argenton, Francesco, Mostacciuolo, Maria Luisa

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

2016

Language:

english

File:

PDF, 883 KB

english, 2016

93

Chromosomal Aberrations Induced by Elf Electric Fields

D'Ambroslo, G., Scaglione, A., Berardino, D. Di, Lioi, M. B., Iannuzzi, L., Mostacciuolo, E., Scarfi, M. R.

Journal:

Electromagnetic Biology and Medicine

Year:

1985

Language:

english

File:

PDF, 319 KB

english, 1985

94

[IEEE 2015 European Control Conference (ECC) - Linz, Austria (2015.7.15-2015.7.17)] 2015 European Control Conference (ECC) - Partial averaging for switched DAEs with two modes

Mostacciuolo, Elisa, Trenn, Stephan, Vasca, Francesco

Year:

2015

Language:

english

File:

PDF, 732 KB

english, 2015

95

[IEEE 2015 54th IEEE Conference on Decision and Control (CDC) - Osaka, Japan (2015.12.15-2015.12.18)] 2015 54th IEEE Conference on Decision and Control (CDC) - Averaging for non-homogeneous switched DAEs

Mostacciuolo, Elisa, Trenn, Stephan, Vasca, Francesco

Year:

2015

Language:

english

File:

PDF, 418 KB

english, 2015

96

Reappraisal of the Incidence Rate of Duchenne and Becker Muscular Dystrophies on the Basis of Molecular Diagnosis

Mostacciuolo, M.L., Miorin, M., Pegoraro, E., Fanin, M., Schiavon, F., Vitiello, L., Saad, F.A., Angelini, C., Danieli, G.A.

Journal:

Neuroepidemiology

Year:

1993

File:

PDF, 631 KB

1993

97

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

Boaretto, Francesca, Snijders, Deborah, Salvoro, Cecilia, Spalletta, Ambra, Mostacciuolo, Maria Luisa, Collura, Mirella, Cazzato, Salvatore, Girosi, Donatella, Silvestri, Michela, Rossi, Giovanni Artu

Journal:

The Journal of Molecular Diagnostics

Year:

2016

Language:

english

File:

PDF, 861 KB

english, 2016

98

Differential Algebraic Equations and Averaged Models for Switched Capacitor Converters with State Jumps

Mostacciuolo, Elisa, Vasca, Francesco, Baccari, Silvio

Journal:

IEEE Transactions on Power Electronics

Year:

2017

Language:

english

File:

PDF, 1.89 MB

english, 2017

99

[IEEE 2016 European Control Conference (ECC) - Aalborg, Denmark (2016.6.29-2016.7.1)] 2016 European Control Conference (ECC) - Averaged model for power converters with state jumps

Mostacciuolo, Elisa, Vasca, Francesco

Year:

2016

Language:

english

File:

PDF, 700 KB

english, 2016

100

Action potential contour contributes to species differences in repolarization response to β-adrenergic stimulation

Sala, Luca, Hegyi, Bence, Bartolucci, Chiara, Altomare, Claudia, Rocchetti, Marcella, Váczi, Krisztina, Mostacciuolo, Gaspare, Szentandrássy, Norbert, Severi, Stefano, Pál Nánási, Péter, Zaza, Antonio

Journal:

Year:

2017

Language:

english

File:

PDF, 703 KB

english, 2017