Mostacciuolo, M. L.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

[IEEE 2018 17th European Control Conference (ECC) - Limassol, Cyprus (2018.6.12-2018.6.15)] 2018 European Control Conference (ECC) - Modeling and power management of a LEO small satellite electrical power system

Mostacciuolo, Elisa, Iannelli, Luigi, Sagnelli, Salvatore, Vasca, Francesco, Luisi, Raffaele, Stanzione, Vincenzo

Year:

2018

Language:

english

File:

PDF, 518 KB

english, 2018

2

Mutation Analysis ofMFN2,GJB1,MPZandPMP22 inItalian Patients with Axonal Charcot–Marie–Tooth Disease

G. Bergamin, F. Boaretto, C. Briani, E. Pegoraro, M. Cacciavillani, A. Martinuzzi, M. Muglia, A. Vettori, G. Vazza, M. L. Mostacciuolo

Journal:

NeuroMolecular Medicine

Year:

2014

Language:

english

File:

PDF, 1.31 MB

english, 2014

3

Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene

Kress, W., Müller, E., Kausch, K., Kullmann, F., Mostacciuolo, M.L., Rietschel, M., Rotthauwe, H.W., Schmalenberger, B., Siciliano, G., Voit, T.

Journal:

Neuromuscular Disorders

Year:

1992

Language:

english

File:

PDF, 377 KB

english, 1992

4

Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2

Bergamin, Giorgia, Torre, Chiara Dalla, Cacciavillani, Mario, Lucchetta, Marta, Boaretto, Francesca, Campagnolo, Marta, Mostacciuolo, Maria Luisa, Briani, Chiara

Journal:

Year:

2014

Language:

english

File:

PDF, 158 KB

english, 2014

5

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia

Boaretto, Francesca, Cacciavillani, Mario, Mostacciuolo, Maria Luisa, Spalletta, Ambra, Piscosquito, Giuseppe, Pareyson, Davide, Vazza, Giovanni, Briani, Chiara

Journal:

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

6

Averaging for switched DAEs: Convergence, partial averaging and stability

Mostacciuolo, Elisa, Trenn, Stephan, Vasca, Francesco

Journal:

Year:

2017

Language:

english

File:

PDF, 906 KB

english, 2017

7

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

Gennarelli, M., Novelli F., G., Bassi, Andreasi, Martorell, L., Cornet, M., Menegazzo, E., Mostacciuolo, M.L., Martinez, J.M., Angelini, C., Pizzuti, A., Baiget, M., Dallapiccola, B.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 637 KB

english, 1996

8

Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis

Saad, Fawzy A., Merlini, Luciano, Mostacciuolo, Maria Luisa, Danieli, Gian Antonio

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 137 KB

english, 1998

9

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant charcot-marie-tooth neuropathy

Federica Schiavon, Cinzia Fracasso, Maria L. Mostacciuolo

Journal:

Year:

1996

Language:

english

File:

PDF, 273 KB

english, 1996

10

Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

Fawzy A. Saad, Maria L. Mostacciuolo, Carlo P. Trevisan, Giuliano Tomelleri, Corrado Angelini, Ekram Abdel Salam, Gian Antonio Danieli

Journal:

Year:

1997

Language:

english

File:

PDF, 122 KB

english, 1997

11

Problems in genetic counseling in a family with an “atypical” centronuclear myopathy

Dr. Bertram Müller, Maria Luisa Mostacciuolo, Gian Antonio Danieli, Tiemo Grimm

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 281 KB

english, 1989

12

Genetic epidemiology of hereditary motor sensory neuropathies (type I)

M. L. Mostacciuolo, G. Micaglio, P. Fardin, Professor G. A. Danieli

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 330 KB

english, 1991

13

Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy

M. L. Mostacciuolo, M. Miorin, L. Vitiello, A. Rampazzo, M. Fanin, C. Angelini, G. A. Danieli

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 253 KB

english, 1994

14

X-inactivation pattern in multiple tissues from two leber's hereditary optic neuropathy (LHON) patients

Elena Pegoraro, Andrea Vettori, Maria L. Valentino, Annamaria Molon, Maria L. Mostacciuolo, Neil Howell, Valerio Carelli

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 60 KB

english, 2003

15

Genetic epidemiology of myotonic dystrophy

M. L. Mostacciuolo, G. Barbujani, M. Armani, Dr. G. A. Danieli, C. Angelini, D. C. Rao

Journal:

Genetic Epidemiology

Year:

1987

Language:

english

File:

PDF, 515 KB

english, 1987

16

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

M.L. Mostacciuolo, E. Righetti, M. Zortea, V. Bosello, F. Schiavon, L. Vallo, L. Merlini, G. Siciliano, G.M. Fabrizi, N. Rizzuto, M. Milani, S. Baratta, F. Taroni

Journal:

Year:

2001

Language:

english

File:

PDF, 230 KB

english, 2001

17

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

Federica Schiavon, Alessandra Rampazzo, Luciano Merlini, Corrado Angelini, Maria L. Mostacciuolo

Journal:

Year:

1998

Language:

english

File:

PDF, 424 KB

english, 1998

18

Continuous exposure of cell cultures to weak E.L.F. electric fields

G. d'Ambrosio, E. Mostacciuolo, A. Scaglione, M.R. Scarfì

Journal:

Bioelectrochemistry and Bioenergetics

Year:

1985

Language:

english

File:

PDF, 379 KB

english, 1985

19

Familial epilepsy and developmental dysphasia: Description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci

Roberto Michelucci, Eva Scudellaro, Stefania Testoni, Daniela Passarelli, Patrizia Riguzzi, Erica Diani, Giovanni Vazza, Valeria Vianello, Aldo Scabar, Maria L. Mostacciuolo, Lilia Volpi, Guido Rubbol

Journal:

Epilepsy Research

Year:

2008

Language:

english

File:

PDF, 625 KB

english, 2008

20

Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis

G Siciliano, ML Manca, M Gennarelli, C Angelini, A Rocchi, A Iudice, M Miorin, ML Mostacciuolo

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 109 KB

english, 2001

21

Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma

G. Opocher, F. Schiavi, A. Vettori, F. Pampinella, L. Vitiello, A. Calderan, B. Vianello, A. Murgia, M. Martella, A. Taccaliti, F. Mantero, M. L. Mostacciuolo

Journal:

Clinical Endocrinology

Year:

2003

Language:

english

File:

PDF, 236 KB

english, 2003

22

CONGENITAL HYPOMYELINATION NEUROPATHY WITH A NOVEL MUTATION OF PMP22

F. Rigatelli, G.M. Fabrizi, A. Simonati, T. Cavallaro, M. Ferrarini, F. Taioli, M.L. Mostacciuolo, N. Rizzuto

Journal:

Journal of the Peripheral Nervous System

Year:

2000

Language:

english

File:

PDF, 244 KB

english, 2000

23

PMP22 Mutations In DÉJÈRine-Sottas Disease: A Mutational “Hot Spot” On Codon 72

M Milani, N Milani, D Pareyson, K Gorni, L Merlini, ML Mostacciuolo, F. Taroni

Journal:

Journal of the Peripheral Nervous System

Year:

2001

Language:

english

File:

PDF, 204 KB

english, 2001

24

Patterns of deletions of the dystrophin gene in different European populations

Gian Antonio Danieli, Federico Mioni, Clemens R. Müller, Libero Vitiello, Maria Luisa Mostacciuolo, Tiemo Grimm

Journal:

Year:

1993

Language:

english

File:

PDF, 432 KB

english, 1993

25

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)

Elisabetta Müller, Maria Luisa Mostacciuolo, Gianfranco Micaglio, Corrado Angelini, Gian Antonio Danieli

Journal:

Year:

1992

Language:

english

File:

PDF, 418 KB

english, 1992

26

Duchenne muscular dystrophy

G. A. Danieli, M. L. Mostacciuolo, G. Pilotto, C. Angelini, A. Bonfante

Journal:

Year:

1980

Language:

english

File:

PDF, 486 KB

english, 1980

27

Sporadic cases in Duchenne muscular dystrophy

Antonella Russo, Guido Barbuiani, Maria Luisa Mostacciuolo, Falko H. Herrmann, Aribert W. J. Spiegler, Giuliana Galluzzi, Gian Antonio Danieli

Journal:

Year:

1987

Language:

english

File:

PDF, 648 KB

english, 1987

28

Duchenne muscular dystrophy

G. A. Danieli, M. L. Mostacciuolo, A. Bonfante, C. Angelini

Journal:

Year:

1977

Language:

english

File:

PDF, 331 KB

english, 1977

29

A voltage-dependent calcium current in mouse Swiss 3T3 fibroblasts

A. Peres, R. Zippel, E. Sturani, G. Mostacciuolo

Journal:

Pflügers Archiv European Journal of Physiology

Year:

1988

Language:

english

File:

PDF, 393 KB

english, 1988

30

X-linked Charcot-Marie-Tooth disease

M. L. Mostacciuolo, E. Müller, P. Fardin, G. F. Micaglio, B. Bardoni, S. Guioli, G. Camerino, G. A. Danieli

Journal:

Year:

1991

Language:

english

File:

PDF, 365 KB

english, 1991

31

A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron

Federico Galvagni, Fawzy A. Saad, Gian Antonio Danieli, Marta Miorin, Libero Vitiello, Maria Luisa Mostacciuolo, Corrado Angelini

Journal:

Year:

1994

Language:

english

File:

PDF, 555 KB

english, 1994

32

Caffeine-induced Ca2+signaling as an index of cardiac progenitor cells differentiation

C. Altomare, L. Barile, S. Marangoni, M. Rocchetti, M. Alemanni, G. Mostacciuolo, A. Giacomello, E. Messina, Antonio Zaza

Journal:

Basic Research in Cardiology

Year:

2010

Language:

english

File:

PDF, 1.23 MB

english, 2010

33

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E

Cinzia Andrigo, Chiara Boito, Paola Prandini, Maria Luisa Mostacciuolo, Gabriele Siciliano, Corrado Angelini, Elena Pegoraro

Journal:

Year:

2005

Language:

english

File:

PDF, 106 KB

english, 2005

34

A novel missense mutation in theL1CAMgene in a boy with L1 disease

A. Simonati, F. Boaretto, A. Vettori, P. Dabrilli, L. Criscuolo, N. Rizzuto, M. L. Mostacciuolo

Journal:

Neurological Sciences

Year:

2006

Language:

english

File:

PDF, 81 KB

english, 2006

35

Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form

ML Mostacciuolo, E Crestanello, F Boaretto, E Boscolo, M Liguori, D Tessarolo, A Vettori, G Vazza

Journal:

Journal of the Peripheral Nervous System

Year:

2004

Language:

english

File:

PDF, 203 KB

english, 2004

36

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

ML Mostacciuolo, E Pastorello, G Vazza, M Miorin, C Angelini, G Tomelleri, G Galluzzi, CP Trevisan

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 126 KB

english, 2009

37

Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26

Vazza, G, Bertolin, C, Scudellaro, E, Vettori, A, Boaretto, F, Rampinelli, S, De Sanctis, G, Perini, G, Peruzzi, P, Mostacciuolo, M L

Journal:

Molecular Psychiatry

Year:

2006

Language:

english

File:

PDF, 223 KB

english, 2006

38

Rate dependency of β-adrenergic modulation of repolarizing currents in the guinea-pig ventricle

M. Rocchetti, V. Freli, V. Perego, C. Altomare, G. Mostacciuolo, A. Zaza

Journal:

The Journal of Physiology

Year:

2006

Language:

english

File:

PDF, 548 KB

english, 2006

39

Population data on benign and severe forms of X-linked muscular dystrophy

M. L. Mostacciuolo, A. Lombardi, V. Cambissa, G. A. Danieli, C. Angelini

Journal:

Year:

1987

Language:

english

File:

PDF, 364 KB

english, 1987

40

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

G. Novelli, M. Gennarelli, E. Menegazzo, M.L. Mostacciuolo, A. Pizzuti, C. Fattorini, D. Tessarolo, G. Tomelleri, M. Giacanelli, G.A. Danieli, N. Rizzuto, C.T. Caskey, C. Angelini, B. Dallapiccola

Journal:

Biochemical Medicine and Metabolic Biology

Year:

1993

File:

PDF, 377 KB

1993

41

Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

Caterina Millino, Marina Fanin, Andrea Vettori, Paolo Laveder, Maria Luisa Mostacciuolo, Corrado Angelini, Gerolamo Lanfranchi

Journal:

Year:

2009

Language:

english

File:

PDF, 363 KB

english, 2009

42

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

F. Capon, C. Levato, L. Merlini, C. Angelini, M.L. Mostacciuolo, L. Politano, G. Novelli, B. Dallapiccola

Journal:

Neuromuscular Disorders

Year:

1996

Language:

english

File:

PDF, 355 KB

english, 1996

43

Genotype-phen type correlation and prognostic assessment in 463 patients with myotonic dystrophy

M. Gennarelli, G. Novelli, M. Pavoni, F. Andreasi-Bassi, L. Martorrell, M. Cornet, E. Menegazzo, M.L. Mostacciuolo, J.M. Martinez, C. Angelini, A. Pizzuti, M. Baiget, B. Dallapiccola

Journal:

Neuromuscular Disorders

Year:

1996

Language:

english

File:

PDF, 115 KB

english, 1996

44

Co-segregation of LMNA and PMP22 gene mutations in the same family

Elena Pegoraro, Bruno F. Gavassini, Sara Benedetti, Immacolata Menditto, Gabriella Zara, Roberta Padoan, Maria Luisa Mostacciuolo, Maurizio Ferrari, Corrado Angelini

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 154 KB

english, 2005

45

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset

G. Vazza, L. Merlini, C. Bertolin, M. Zortea, M.L. Mostacciuolo

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 215 KB

english, 2006

46

Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy

Andrea Vettori, Giorgia Bergamin, Enrico Moro, Giovanni Vazza, Giulia Polo, Natascia Tiso, Francesco Argenton, Maria Luisa Mostacciuolo

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 941 KB

english, 2011

47

Ca2+ handling in a guinea-pig hypertrophy/failure model

M. Rocchetti, P. Barassi, M. Alemanni, G. Mostacciuolo, P. Ferrari, A. Zaza

Journal:

Journal of Molecular and Cellular Cardiology

Year:

2007

Language:

english

File:

PDF, 54 KB

english, 2007

48

Modulation of cardiac contractility by antagonism of pleckstrin-homology (PH) domain and akt-1 silencing

R. Chisci, M. Rocchetti, F. Menduni, G. Mostacciuolo, L. Cipolla, G. Saturno, R. Castoldi, M. Venturi, A. Zaza

Journal:

Journal of Molecular and Cellular Cardiology

Year:

2008

Language:

english

File:

PDF, 65 KB

english, 2008

49

Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28

G. Vazza, S. Picelli, A. Bozzato, M.L. Mostacciuolo

Journal:

Year:

2003

Language:

english

File:

PDF, 899 KB

english, 2003

50

Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity

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

Journal:

Neuromuscular Disorders

Year:

2000

Language:

english

File:

PDF, 107 KB

english, 2000