M
M. De Mari
Researcher at University of Bari
Publications - 31
Citations - 1549
M. De Mari is an academic researcher from University of Bari. The author has contributed to research in topics: Population & Progressive supranuclear palsy. The author has an hindex of 20, co-authored 31 publications receiving 1472 citations. Previous affiliations of M. De Mari include University of Catania & University of Milan.
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Journal ArticleDOI
Early-onset parkinsonism associated with PINK1 mutations Frequency, genotypes, and phenotypes
Vincenzo Bonifati,Christan F. Rohé,Guido J. Breedveld,Edito Fabrizio,M. De Mari,Cristina Tassorelli,A. Tavella,Roberto Marconi,David Nicholl,Hsin Fen Chien,E. Fincati,Giovanni Abbruzzese,P. Marini,A. De Gaetano,Martin W.I.M. Horstink,J. A. Maat-Kievit,Cristina Sampaio,Angelo Antonini,Fabrizio Stocchi,Pasquale Montagna,Vincenzo Toni,Marco Guidi,A. Dalla Libera,Michele Tinazzi,F. de Pandis,Giovanni Fabbrini,Stefano Goldwurm,A. de Klein,Egberto Reis Barbosa,Leonardo Lopiano,Emilia Martignoni,Paolo Lamberti,Nicola Vanacore,Giuseppe Meco,Ben A. Oostra +34 more
TL;DR: PINK1 homozygous mutations are a relevant cause of disease among Italian sporadic patients with early-onset parkinsonism, and this study suggests that, at least in some patients, these mutations are disease causing, in combination with additional, still unknown factors.
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Fatigue in Parkinson's disease.
TL;DR: Analysis showed the usefulness of the MFI in discriminating between different dimensions of fatigue for a better therapeutic approach in Parkinson's disease.
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Freezing Gait in Parkinson's Disease
TL;DR: The freezing gait phenomenon (FG) appeared on average 4.8 years after the beginning of PD; in 16% of the cases it was evident before starting L-Dopa treatment, and was more frequent among female patients.
Journal ArticleDOI
Familial Parkinson's disease: a clinical genetic analysis.
TL;DR: The clinical genetic analyses support autosomal dominant inheritance with strongly age-related penetrance as most likely in familial Parkinson’s disease (PD).
Journal ArticleDOI
Direct genetic evidence for involvement of tau in progressive supranuclear palsy
Phil Bennett,Vincenzo Bonifati,Ubaldo Bonuccelli,Cesare Colosimo,M. De Mari,Giovanni Fabbrini,Roberto Marconi,Giuseppe Meco,David Nicholl,Fabrizio Stocchi,Nicola Vanacore,Peter Vieregge,A. C. Williams +12 more
TL;DR: In this paper, the authors examined the allelic distribution of a dinucleotide repeat marker in an intron of the microtubule-associated protein tau in an independent study population and established an improved methodology for allelotyping.