S
S. Di Donato
Researcher at Carlo Besta Neurological Institute
Publications - 13
Citations - 284
S. Di Donato is an academic researcher from Carlo Besta Neurological Institute. The author has contributed to research in topics: Huntington's disease & Parkinson's disease. The author has an hindex of 7, co-authored 13 publications receiving 271 citations.
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Journal ArticleDOI
EFNS guidelines on the molecular diagnosis of mitochondrial disorders.
Josef Finsterer,Hanne F. Harbo,Jonathan Baets,C. Van Broeckhoven,S. Di Donato,Bertrand Fontaine,P. De Jonghe,Alexander Lossos,Timothy Lynch,Caterina Mariotti,Ludger Schöls,Antonella Spinazzola,Z. Szolnoki,Sarah J. Tabrizi,Chantal M. E. Tallaksen,Massimo Zeviani,J.-M. Burgunder,T. Gasser +17 more
TL;DR: These European Federation of Neurological Sciences guidelines are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics for diagnosing mitochondrial disorders (MIDs), which gain increasing attention and are more frequently diagnosed due to improved diagnostic tools.
Journal ArticleDOI
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
C. Gellera,Barbara Castellotti,M. C. Riggio,Vincenzo Silani,Lucia Morandi,D. Testa,Carlo Casali,Franco Taroni,S. Di Donato,Massimo Zeviani,Caterina Mariotti +10 more
TL;DR: The number of ALS-associated SOD1 gene mutations is increased, and in one SALS patient, an A95T amino acid substitution is identified, that is apparently a non-pathogenic S OD1 variant.
Journal ArticleDOI
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
T. Gasser,Josef Finsterer,Jonathan Baets,C. Van Broeckhoven,S. Di Donato,Bertrand Fontaine,P. De Jonghe,Alexander Lossos,Timothy Lynch,Caterina Mariotti,Ludger Schöls,Antonella Spinazzola,Z. Szolnoki,Sarah J. Tabrizi,Chantal M. E. Tallaksen,Massimo Zeviani,J.-M. Burgunder,Hanne F. Harbo +17 more
TL;DR: These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetics disorders.
Journal ArticleDOI
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias
Hanne F. Harbo,Josef Finsterer,Jonathan Baets,C. Van Broeckhoven,S. Di Donato,Bertrand Fontaine,P. De Jonghe,Alexander Lossos,Timothy Lynch,Caterina Mariotti,Ludger Schöls,Antonella Spinazzola,Z. Szolnoki,Sarah J. Tabrizi,Chantal M. E. Tallaksen,Massimo Zeviani,J.-M. Burgunder,T. Gasser +17 more
TL;DR: These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetics disorders.
Journal ArticleDOI
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
J.-M. Burgunder,Ludger Schöls,Jonathan Baets,Peter M. Andersen,Thomas Gasser,Z. Szolnoki,Bertrand Fontaine,C. Van Broeckhoven,S. Di Donato,P. De Jonghe,T. Lynch,Caterina Mariotti,Antonella Spinazzola,Sarah J. Tabrizi,Chantal M. E. Tallaksen,Massimo Zeviani,Hanne F. Harbo,Josef Finsterer +17 more
TL;DR: These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work‐up is indicated.