Search

Author/Creator Orcesi, Simona

2. A New Self-Report Quality of Life Questionnaire for Children With Neuromuscular Disorders: Presentation of the Instrument, Rationale for Its Development, and Some Preliminary Results. (February 2014)

Authors:
Orcesi, Simona; Ariaudo, Giada; Mercuri, Eugenio; Beghi, Ettore; Rezzani, Cristiana; Balottin, Umberto
Journal:
Journal of child neurology
Issue:
Volume 29:Number 2(2014:Feb.)
Page Start:
167
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events. (23rd February 2015)

Authors:
Decio, Alice; Tonduti, Davide; Pichiecchio, Anna; Vetro, Annalisa; Ciccone, Roberto; Limongelli, Ivan; Giorda, Roberto; Caffi, Lorella; Balottin, Umberto; Zuffardi, Orsetta; Orcesi, Simona
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 4(2015:Apr.)
Page Start:
810
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Aicardi–Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies. Issue 10 (6th June 2014)

Authors:
Cuadrado, Eloy; Vanderver, Adeline; Brown, Kristy J; Sandza, Annie; Takanohashi, Asako; Jansen, Machiel H; Anink, Jasper; Herron, Brian; Orcesi, Simona; Olivieri, Ivana; Rice, Gillian I; Aronica, Eleonora; Lebon, Pierre; Crow, Yanick J; Hol, Elly M; Kuijpers, Taco W
Journal:
Annals of the rheumatic diseases
Issue:
Volume 74:Issue 10(2015)
Page Start:
1931
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Altered PLP1 splicing causes hypomyelination of early myelinating structures. Issue 6 (1st May 2015)

Authors:
Kevelam, Sietske H.; Taube, Jennifer R.; van Spaendonk, Rosalina M. L.; Bertini, Enrico; Sperle, Karen; Tarnopolsky, Mark; Tonduti, Davide; Valente, Enza Maria; Travaglini, Lorena; Sistermans, Erik A.; Bernard, Geneviève; Catsman‐Berrevoets, Coriene E.; van Karnebeek, Clara D. M.; Østergaard, Joh...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Issue 6(2015:Jun.)
Page Start:
648
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome. (2nd March 2021)

Authors:
Masnada, Silvia; Pichiecchio, Anna; Formica, Manuela; Arrigoni, Filippo; Borrelli, Paola; Accorsi, Patrizia; Bonanni, Paolo; Borgatti, Renato; Bernardina, Bernardo Dalla; Danieli, Alberto; Darra, Francesca; Deconinck, Nicolas; De Giorgis, Valentina; Dulac, Olivier; Gataullina, Svetlana; Giordano,...
Journal:
Neurology
Issue:
Volume 96:Number 9(2021)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗