Maria Luisa Mostacciuolo

Author

Also Known As

Giulia Poloni, M L Mostacciuolo, M. L. Mostacciuolo, M.L Mostacciuolo, M.L. Mostacciuolo, Maria L. Mostacciuolo, Maria Luisa Mostacciuolo, Maria Mostacciuolo

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

University of Padua IRCCS San Camillo Hospital Fondazione IRCCS Istituto Neurologico Carlo Besta Institute of Neurological Sciences Istituto Ortopedico Rizzoli

About

Maria Luisa Mostacciuolo is an author at University of Padua specializing in medicine, genetics, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	26	1.1K
2	Public Health	4	4	223
3	Health Sciences	2	2	59
4	Engineering	1	1	14
5	Natural Sciences	1	1	15

Maria Luisa Mostacciuolo

Publications

1.6K

Citations

H-Index

Page 1

	Year	Citations
Cardiac involvement in becker muscular dystrophy Paola Melacini, Gian Antonio Danieli, G Fasoli, Journal of the American College of Cardiology Cardiac MuscleCardiomyopathyHeart FailurePhysiologyBecker Muscular Dystrophy	1993	132
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy Maria Luisa Mostacciuolo, Marta Miorin, Francesco Martinello, Human Genetics North-east ItalyRare DiseasesGenetic TestingMendelian DisorderGenetic Disorder	1996	124
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. David Duggan, Maria Luisa Mostacciuolo, Flávia Martinello, Journal of Medical Genetics	1997	95
Loss-of-function mutations in the<i>SIGMAR1</i>gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca<sup>2+</sup>signalling Elisa Gregianin, Giorgia Pallafacchina, Sofia Zanin, Human Molecular Genetics	2016	93
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats Massimo Gennarelli, Giuseppe Novelli, Andreasi Bassi, American Journal of Medical Genetics GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationClinical Genetics	1996	90
Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy Caterina Millino, Andrea Vettori, Paolo Laveder, BMC Medicine	2009	77
A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28 Giovanni Vazza, M. Zortea, Francesca Boaretto, The American Journal of Human Genetics Down SyndromeDistal Motor NeuropathyMendelian DisorderNeurological DisorderMedicine	2000	74
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families Maria Luisa Mostacciuolo, Elisabetta Righetti, M. Zortea, Human Mutation Neurological DisorderGeneticsGenetic EpidemiologyPathologyDisease Gene Identification	2001	58
(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients Giuseppe Novelli, Massimo Gennarelli, E. Menegazzo, Biochemical Medicine and Metabolic Biology Rare DiseasesMendelian DisorderGenetic DisorderTriplet MutationPathology	1993	55
Prevalence of Inherited Ataxias in the Province of Padua, Italy M. Zortea, M. Armani, Ebe Pastorello, Neuroepidemiology Family MedicineRare DiseasesInherited AtaxiasMendelian DisorderGenetic Disorder	2004	51

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