Maria Luisa Mostacciuolo
University of Padua(IT)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Muscle Physiology and Disorders, Neurological diseases and metabolism, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Cardiac involvement in becker muscular dystrophy(1993)132 cited
- → Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy(1996)124 cited
- → Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.(1997)95 cited
- → Loss-of-function mutations in theSIGMAR1gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+signalling(2016)93 cited
- → Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats(1996)90 cited
- → Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy(2009)77 cited
- → A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28(2000)74 cited
- → Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families(2001)58 cited
- → (CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients(1993)55 cited
- → Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel(2016)52 cited