MOSTACCIUOLO, MARIA LUISA

MOSTACCIUOLO, MARIA LUISA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients. 1993 MOSTACCIUOLO, MARIA LUISA + BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY - -
2004. Double trouble for muscle and nerve: lamin A/C and PMP22 mutations in the same family. 2004 PEGORARO, ELENAGAVASSINI, BRUNO FRANCESCOMOSTACCIUOLO, MARIA LUISAANGELINI, CORRADO + BASIC AND APPLIED MYOLOGY - -
[Genetic counseling in hereditary neuromuscular diseases]. 1986 MOSTACCIUOLO, MARIA LUISA + MINERVA PEDIATRICA - -
[Steinert's dystrophia myotonica . Epidemiological and clinical aspects]. 1986 MOSTACCIUOLO, MARIA LUISAARMANI, MARIO MINERVA PEDIATRICA - -
A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions. 1992 VITIELLO, LIBEROMOSTACCIUOLO, MARIA LUISA + HUMAN MOLECULAR GENETICS - -
A locus for migraine without aura maps on chromosome 14q21.2-q22.3 2003 VETTORI, ANDREAVAZZA, GIOVANNIMOSTACCIUOLO, MARIA LUISA + AMERICAN JOURNAL OF HUMAN GENETICS - -
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28 2000 VAZZA, GIOVANNIZORTEA, MICHELAMOSTACCIUOLO, MARIA LUISA + AMERICAN JOURNAL OF HUMAN GENETICS - -
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset 2006 VAZZA, GIOVANNIBERTOLIN, CINZIAZORTEA, MICHELAMOSTACCIUOLO, MARIA LUISA + NEUROMUSCULAR DISORDERS - -
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy 2007 VAZZA, GIOVANNIMOSTACCIUOLO, MARIA LUISA + JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. 2009 VAZZA, GIOVANNIMOSTACCIUOLO, MARIA LUISA + BMJ CASE REPORT - -
A novel missense mutation in the L1CAM gene in a boy with L1 disease 2006 BOARETTO, FRANCESCAVETTORI, ANDREAMOSTACCIUOLO, MARIA LUISA + NEUROLOGICAL SCIENCES - -
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not results in Charcot-Marie-Tooth disease type 2E 2005 MOSTACCIUOLO, MARIA LUISAANGELINI, CORRADOPEGORARO, ELENA + NEUROGENETICS - -
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. 2013 GREGIANIN, ELISAVAZZA, GIOVANNIBOARETTO, FRANCESCAVETTORI, ANDREALEONARDI, EMANUELATOSATTO, SILVIOManara RPEGORARO, ELENAMOSTACCIUOLO, MARIA LUISA + EUROPEAN JOURNAL OF NEUROLOGY - -
A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study. 1994 MOSTACCIUOLO, MARIA LUISAVITIELLO, LIBERO + GENE GEOGRAPHY - -
A severe case of Duchenne-like muscular dystrophy due to a mutation in the alpha-sarcoglycan (adhalin) gene 1996 FANIN, MARINAPEGORARO, ELENASORARU', GIANNIMOSTACCIUOLO, MARIA LUISATREVISAN, CARLO PIETROANGELINI, CORRADO + BASIC AND APPLIED MYOLOGY - -
A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron 1994 DANIELI, GIAN ANTONIOVITIELLO, LIBEROMOSTACCIUOLO, MARIA LUISAAngelini C. + HUMAN GENETICS - -
A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron. 1994 VITIELLO, LIBEROMOSTACCIUOLO, MARIA LUISAANGELINI, CORRADO + HUMAN GENETICS - -
Abstracts of the XXIII rd World Congress of Psychiatric Genetics (WCPG): Poster abstracts 2017 Cecilia SalvoroCAMPANELLI, CARLOLivio FinosGiorgio ValleLuisa MostacciuoloStefania BortoluzziGiovanni Vazza EUROPEAN NEUROPSYCHOPHARMACOLOGY - -
Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder. 2011 BERTOLIN, CINZIAVETTORI, ANDREAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISAVAZZA, GIOVANNI + JOURNAL OF HUMAN GENETICS - -
c.1392+2T>C mutation in MFN2 gene affects splicing in Charcot-Marie-Tooth (CMT) 2A family. 2008 VETTORI, ANDREABOARETTO, FRANCESCAVAZZA, GIOVANNIBERGAMIN, GIORGIAMOSTACCIUOLO, MARIA LUISA + - - -