Author

Federica Schiavon

Observed names: F Schiavon, F. Schiavon, Schiavon F

Institution: University of Padua

Observed institution: University of Padua

OpenAlex ID: A5076859646

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

2001 · M.L. Mostacciuolo, E. Righetti, et al. · Human Mutation · 56

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

1998 · Federica Schiavon, Alessandra Rampazzo, et al. · Human Mutation · 26

Reappraisal of the Incidence Rate of Duchenne and Becker Muscular Dystrophies on the Basis of Molecular Diagnosis

1993 · M.L. Mostacciuolo, M. Miorin, et al. · Neuroepidemiology · 24

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

1992 · L Vitiello, M L Mostacciuolo, et al. · Journal of Medical Genetics · 23

Frequency of Duplication at 17p11.2 in Families of Northeast Italy with Charcot-Marie-Tooth Disease Type 1

1995 · M.L. Mostacciuolo, F. Schiavon, et al. · Neuroepidemiology · 18

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

1996 · Federica Schiavon, Cinzia Fracasso, et al. · Human Mutation · 15

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

1994 · F Schiavon, M L Mostacciuolo, et al. · Journal of Medical Genetics · 14

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

2000 · M.L Mostacciuolo, L Rampoldi, et al. · Neuromuscular Disorders · 9

Subject Index Vol. 12, 1993

1993 · Tullio Meloni, Gavino Forteleoni, et al. · Neuroepidemiology · 4

AB0627 Evaluation of internal consistency, feasibility, and reliability of the Italian version of ANCA-associated vasculitis patient-reported outcome (AAV-PRO_ita) questionnaire: preliminary results from a multicenter study on a large cohort of Italian patients

2022 · E. Treppo, M. Isola, et al. · Annals of the Rheumatic Diseases · 3

FRI0255 The 158vv fcgamma receptor 3a genotype is associated with response to rituximab in rheumatoid arthritis: results of an italian multicentre study

2013 · L. Quartuccio, M. Fabris, et al. · Annals of the Rheumatic Diseases · 1

Séquelles à long terme au cours de la granulomatose éosinophilique avec polyangéite : données issues d’une étude rétrospective multicentrique de 845 patients

2020 · M. Papo, R.A. Sinico, et al. · La Revue de Médecine Interne

Efficacité des traitements utilisés chez les patients suivis pour une granulomatose éosinophilique avec polyangéite (Churg-Strauss) en fonction du profil évolutif de la maladie : données d’une étude rétrospective collaborative européenne

2018 · M. Papo, G. Emmi, et al. · La Revue de Médecine Interne

Linkage mapping of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN V): preliminary results

1997 · M.L. Mostacciuolo, L. Rampoldi, et al. · Neuromuscular Disorders

Contents Vol. 12, 1993

1993 · Tullio Meloni, Gavino Forteleoni, et al. · Neuroepidemiology

Author Index Vol. 12, 1993

1993 · Tullio Meloni, Gavino Forteleoni, et al. · Neuroepidemiology

Works count: 17

Citation count: 193

H-index: 8

I10-index: 7