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MOSTACCIUOLO MARIA LUISA: PUBBLICAZIONI

1 Danieli GA, Mostacciuolo ML, Bonfante A, Angelini C.
Duchenne muscular dystrophy. A population study.
HUM GENET. Feb 1977; 35(2): 225-31
2 Danieli GA, Mostacciuolo ML, Pilotto G, Angelini C, Bonfante A.
Duchenne muscular dystrophy: data from family studies.
HUM GENET. 1980; 54(1): 63-8
3 Russo A, Barbujani G, Mostacciuolo ML, Herrmann FH, Spiegler AW, Galluzzi G, Danieli GA.
Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.
HUM GENET. Jul 1987; 76(3): 230-5
4 Mostacciuolo ML, Lombardi A, Cambissa V, Danieli GA, Angelini C.
Population data on benign and severe forms of X-linked muscular dystrophy.
HUM GENET. Mar 1987; 75(3): 217-20
5 Mostacciuolo ML, Barbujani G, Armani M, Danieli GA, Angelini C.
Genetic epidemiology of myotonic dystrophy.
GENET EPIDEMIOL. 1987; 4(4): 289-98
6 Armani M, Pierobon-bormioli S, Mostacciuolo ML, Cacciavillani M, Cassol MA, Candeago RM, Angelini C.
Familial ALS: clinical, genetic and morphological features.
ADV EXP MED BIOL. 1987; 209: 109-10
7 Micaglio G, Fardin P, Battilana M, Lombardi A, Mostacciuolo ML, Danieli GA, Angelini C.
Heterogeneity of Charcot-Marie-Tooth disease suggested by a linkage study.
ADV NEUROL. 1988; 48: 209-19
8 Müller B, Mostacciuolo ML, Danieli GA, Grimm T.
Problems in genetic counseling in a family with an "atypical" centronuclear myopathy.
AM J MED GENET. Mar 1989; 32(3): 417-9
9 Mostacciuolo ML, Micaglio G, Fardin P, Danieli GA.
Genetic epidemiology of hereditary motor sensory neuropathies (type I).
AM J MED GENET. Jun 1991; 39(4): 479-81
10 Mostacciuolo ML, Müller E, Fardin P, Micaglio GF, Bardoni B, Guioli S, Camerino G, Danieli GA.
X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region.
HUM GENET. May 1991; 87(1): 23-7
11 Martinuzzi A, Bartolomei L, Carrozzo R, Mostacciuolo M, Carbonin C, Toso V, Ciafaloni E, Shanske S, Dimauro S, Angelini C.
Correlation between clinical and molecular features in two MELAS families.
J NEUROL SCI. Dec 1992; 113(2): 222-9
12 Müller E, Mostacciuolo ML, Micaglio G, Angelini C, Danieli GA.
Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).
HUM GENET. Nov 1992; 90(3): 231-4
13 Saad FA, Vitiello L, Merlini L, Mostacciuolo ML, Oliviero S, Danieli GA.
A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.
HUM MOL GENET. Aug 1992; 1(5): 345-6
14 Vitiello L, Mostacciuolo ML, Oliviero S, Schiavon F, Nicoletti L, Angelini C, Danieli GA.
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.
J MED GENET. Feb 1992; 29(2): 127-30
15 Mostacciuolo ML, Danieli GA, Trevisan C, Müller E, Angelini C.
Epidemiology of spinal muscular atrophies in a sample of the Italian population.
NEUROEPIDEMIOLOGY. 1992; 11(1): 34-8
16 Kress W, Müller E, Kausch K, Kullmann F, Mostacciuolo ML, Rietschel M, Rotthauwe HW, Schmalenberger B, Siciliano G, Voit T.
Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene.
NEUROMUSCULAR DISORD. 1992; 2(2): 111-5
17 Melacini P, Fanin M, Danieli GA, Fasoli G, Villanova C, Angelini C, Vitiello L, Miorelli M, Buja GF, Mostacciuolo ML.
Cardiac involvement in Becker muscular dystrophy.
J AM COLL CARDIOL. Dec 1993; 22(7): 1927-34
18 Novelli G, Gennarelli M, Menegazzo E, Mostacciuolo ML, Pizzuti A, Fattorini C, Tessarolo D, Tomelleri G, Giacanelli M, Danieli GA.
(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.
BIOCHEM MED METAB B. Aug 1993; 50(1): 85-92
19 Saad FA, Vitiello L, Oliviero S, Mostacciuolo ML, Danieli GA.
Detection of unknown gene mutations by multiplex single-strand conformation polymorphism (MSSCP).
PCR METH APPL. Aug 1993; 3(1): 60-2
20 Danieli GA, Mioni F, Müller CR, Vitiello L, Mostacciuolo ML, Grimm T.
Patterns of deletions of the dystrophin gene in different European populations.
HUM GENET. May 1993; 91(4): 342-6
21 Mostacciuolo ML, Miorin M, Pegoraro E, Fanin M, Schiavon F, Vitiello L, Saad FA, Angelini C, Danieli GA.
Reappraisal of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis.
NEUROEPIDEMIOLOGY. 1993; 12(6): 326-30
22 Schiavon F, Mostacciuolo ML, Saad F, Merlini L, Siciliano G, Angelini C, Danieli GA.
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.
J MED GENET. Nov 1994; 31(11): 880-3
23 Galvagni F, Saad FA, Danieli GA, Miorin M, Vitiello L, Mostacciuolo ML, Angelini C.
A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron.
HUM GENET. Jul 1994; 94(1): 83-7
24 Mostacciuolo ML, Miorin M, Vitiello L, Rampazzo A, Fanin M, Angelini C, Danieli GA.
Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy.
AM J MED GENET. Mar 1994; 50(1): 84-6
25 Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE.
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
HUM MOL GENET. Jan 1994; 3(1): 29-34
26 Cochrane S, Bergoffen J, Fairweather ND, Müller E, Mostacciuolo ML, Monaco AP, Fischbeck KH, Haites NE.
X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
J MED GENET. Mar 1994; 31(3): 193-6
27 Mostacciuolo ML, Schiavon F, Angelini C, Miccoli B, Piccolo F, Danieli GA.
Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1.
NEUROEPIDEMIOLOGY. 1995; 14(2): 49-53
28 Melacini P, Fanin M, Danieli GA, Villanova C, Martinello F, Miorin M, Freda MP, Miorelli M, Mostacciuolo ML, Fasoli G, Angelini C, Dalla Volta S.
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy.
CIRCULATION. Dec 1996; 94(12): 3168-75
29 Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-stern H, Estivill X, Volpini V, Friedl W, Gal A.
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
EUR J HUM GENET. 1996; 4(1): 25-33
30 Schiavon F, Fracasso C, Mostacciuolo ML.
Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
HUM MUTAT. 1996; 8(1): 83-4
31 Mostacciuolo ML, Miorin M, Martinello F, Angelini C, Perini P, Trevisan CP.
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy.
HUM GENET. Mar 1996; 97(3): 277-9
32 Capon F, Levato C, Merlini L, Angelini C, Mostacciuolo ML, Politano L, Novelli G, Dallapiccola B.
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.
NEUROMUSCULAR DISORD. Aug 1996; 6(4): 261-4
33 Gennarelli M, Novelli G, Andreasi Bassi F, Martorell L, Cornet M, Menegazzo E, Mostacciuolo ML, Martinez JM, Angelini C, Pizzuti A, Baiget M, Dallapiccola B.
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.
AM J MED GENET. Nov 1996; 65(4): 342-7
34 Saad FA, Mostacciuolo ML, Trevisan CP, Tomelleri G, Angelini C, Abdel Salam E, Danieli GA.
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.
HUM MUTAT. 1997; 9(2): 188-90
35 Fanin M, Duggan DJ, Mostacciuolo ML, Martinello F, Freda MP, Sorarù G, Trevisan CP, Hoffman EP, Angelini C.
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.
J MED GENET. Dec 1997; 34(12): 973-7
36 Saad FA, Merlini L, Mostacciuolo ML, Danieli GA.
Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis.
AM J MED GENET. Nov 1998; 80(2): 99-102
37 Schiavon F, Rampazzo A, Merlini L, Angelini C, Mostacciuolo ML.
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
HUM MUTAT. 1998; Suppl 1: S217-9
38 Vazza G, Zortea M, Boaretto F, Micaglio GF, Sartori V, Mostacciuolo ML.
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.
AM J HUM GENET. Aug 2000; 67(2): 504-9
39 Mostacciuolo ML, Rampoldi L, Righetti E, Vazza G, Schiavon F, Angelini C.
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity.
NEUROMUSCULAR DISORD. Oct 2000; 10(7): 497-502
40 Siciliano G, Manca M, Gennarelli M, Angelini C, Rocchi A, Iudice A, Miorin M, Mostacciuolo M.
Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis.
CLIN GENET. May 2001; 59(5): 344-9
41 Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F.
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
HUM MUTAT. 2001; 18(1): 32-41
42 Fabrizi GM, Simonati A, Taioli F, Cavallaro T, Ferrarini M, Rigatelli F, Pini A, Mostacciuolo ML, Rizzuto N.
PMP22 related congenital hypomyelination neuropathy.
J NEUROL NEUROSUR PS. Jan 2001; 70(1): 123-6
43 Zortea M, Vettori A, Trevisan CP, Bellini S, Vazza G, Armani M, Simonati A, Mostacciuolo ML.
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.
J MED GENET. Jun 2002; 39(6): 387-90
44 Soragna D, Vettori A, Carraro G, Marchioni E, Vazza G, Bellini S, Tupler R, Savoldi F, Mostacciuolo ML.
A locus for migraine without aura maps on chromosome 14q21.2-q22.3.
AM J HUM GENET. Jan 2003; 72(1): 161-7
45 Pegoraro E, Vettori A, Valentino ML, Molon A, Mostacciuolo ML, Howell N, Carelli V.
X-inactivation pattern in multiple tissues from two leber's hereditary optic neuropathy (LHON) patients.
AM J MED GENET. May 2003; 119A(1): 37-40
46 Dalpozzo F, Rossetto MG, Boaretto F, Sartori E, Mostacciuolo ML, Daga A, Bassi MT, Martinuzzi A.
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.
NEUROLOGY. Aug 2003; 61(4): 580-1
47 Vazza G, Picelli S, Bozzato A, Mostacciuolo ML.
Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28.
GENE. Sep 2003; 314: 113-20
48 Opocher G, Schiavi F, Vettori A, Pampinella F, Vitiello L, Calderan A, Vianello B, Murgia A, Martella M, Taccaliti A, Mantero F, Mostacciuolo ML.
Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma.
CLIN ENDOCRINOL. Dec 2003; 59(6): 707-715
49 Mostacciuolo M, Crestanello E, Boaretto F, Boscolo E, Liguori M, Tessarolo D, Vettori A, Vazza G.
Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form.
J PERIPHER NERV SYST. Jun 2004; 9(2): 122-123
50 Zortea M, Armani M, Pastorello E, Nunez GF, Lombardi S, Tonello S, Rigoni MT, Zuliani L, Mostacciuolo ML, Gellera C, Di Donato S, Trevisan CP.
Prevalence of Inherited Ataxias in the Province of Padua, Italy.
NEUROEPIDEMIOLOGY. Aug 2004; 23(6): 275-280
51 Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C.
Co-segregation of LMNA and PMP22 gene mutations in the same family.
NEUROMUSCULAR DISORD. Nov 2005
52 Andrigo C, Boito C, Prandini P, Mostacciuolo ML, Siciliano G, Angelini C, Pegoraro E.
A novel out-of-frame mutation in the neurofilament light chain gene ( NEFL) does not result in Charcot-Marie-Tooth disease type 2E.
NEUROGENETICS. Jan 2005
53 Simonati A, Boaretto F, Vettori A, Dabrilli P, Criscuolo L, Rizzuto N, Mostacciuolo ML.
A novel missense mutation in the L1CAM gene in a boy with L1 disease.
NEUROL SCI. Jun 2006; 27(2): 114-7
54 Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT.
Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia.
ARCH NEUROL-CHICAGO. May 2006; 63(5): 750-5
55 Vazza G, Bertolin C, Scudellaro E, Vettori A, Boaretto F, Rampinelli S, De Sanctis G, Perini G, Peruzzi P, Mostacciuolo ML.
Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26.
MOL PSYCHIATR. Sep 2006
56 Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML.
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
NEUROMUSCULAR DISORD. Oct 2006
57 Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML.
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
J NEUROL NEUROSUR PS. Nov 2007; 78(11): 1286-7
58 Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML.
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
J NEUROL NEUROSUR PS. Nov 2007; 78(11): 1286-7
59 Michelucci R, Scudellaro E, Testoni S, Passarelli D, Riguzzi P, Diani E, Vazza G, Vianello V, Scabar A, Mostacciuolo ML, Volpi L, Rubboli G, Pinardi F, Mancardi MM, Tassinari CA, Nobile C.
Familial epilepsy and developmental dysphasia: Description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci.
EPILEPSY RES. May 2008
60 Crimella C, Arnoldi A, Crippa F, Mostacciuolo ML, Boaretto F, Sironi M, D'angelo MG, Manzoni S, Piccinini L, Turconi AC, Toscano A, Musumeci O, Benedetti S, Fazio R, Bresolin N, Daga A, Martinuzzi A, Bassi MT.
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.
J MED GENET. Feb 2009
61 Millino C, Fanin M, Vettori A, Laveder P, Mostacciuolo ML, Angelini C, Lanfranchi G.
Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy.
BMC MEDICINE. APR 2009; 7: 7-14
62 Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, Galluzzi G, Trevisan CP.
Facioscapulohumeral muscular dystrophy:epidemiological and molecular study in a north-east Italian population sample.
CLIN GENET. JUN 2009; 75(6): 550-555