1. A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis. Issue 3 (3rd June 2016) Authors: Bouwkamp, Christian G.; Kievit, Anneke J. A.; Olgiati, Simone; Breedveld, Guido J.; Coesmans, Michiel; Bonifati, Vincenzo; Kushner, Steven A. Journal: American journal of medical genetics Issue: Volume 174:Issue 3(2017) Page Start: 214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. DNAJC6 mutations associated with early-onset Parkinson's disease. (January 2016) Authors: Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P.M.A.; Saute, Jonas A.; Chien, Hsin Fen; Bouwkamp, Christian G.; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J.; Zhang, Jianguo; Verheijen, Frans W.; Mandemakers, Wim; Boon, Agnita J.W.; Kievit, Anneke J.A.; Jardim, Lau... Journal: Parkinsonism & related disorders Issue: Volume 22(2016)Supplement 2 Page Start: e144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DNAJC6 Mutations Associated With Early‐Onset Parkinson's Disease. Issue 2 (14th January 2016) Authors: Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P.M.A.; Saute, Jonas A.; Chien, Hsin Fen; Bouwkamp, Christian G.; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J.; Zhang, Jianguo; Verheijen, Frans W.; Boon, Agnita J.W.; Kievit, Anneke J.A.; Jardim, Laura Bannach; Mandem... Journal: Annals of neurology Issue: Volume 79:Issue 2(2016:Feb.) Page Start: 244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. DYT16/PRKRA founder mutation causes childhood-onset generalized dystonia in a family from Southern Italy. (January 2016) Authors: Quadri, Marialuisa; Olgiati, Simone; Sensi, Mariachiara; Gualandi, Francesca; Groppo, Elisabetta; Rispoli, Vittorio; Graafland, Josja; Breedveld, Guido J.; Fabbrini, Giovanni; Bonifati, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 22(2016)Supplement 2 Page Start: e77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family. Issue 8 (August 2015) Authors: Olgiati, Simone; Thomas, Astrid; Quadri, Marialuisa; Breedveld, Guido J.; Graafland, Josja; Eussen, Hubertus; Douben, Hannie; de Klein, Annelies; Onofrj, Marco; Bonifati, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 21:Issue 8(2015) Page Start: 981 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family. Issue 8 (August 2015) Authors: Olgiati, Simone; Thomas, Astrid; Quadri, Marialuisa; Breedveld, Guido J.; Graafland, Josja; Eussen, Hubertus; Douben, Hannie; de Klein, Annelies; Onofrj, Marco; Bonifati, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 21:Issue 8(2015) Page Start: 981 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia. Issue 3 (15th December 2020) Authors: Kuipers, Demy J. S.; Mandemakers, Wim; Lu, Chin‐Song; Olgiati, Simone; Breedveld, Guido J.; Fevga, Christina; Tadic, Vera; Carecchio, Miryam; Osterman, Bradley; Sagi‐Dain, Lena; Wu‐Chou, Yah‐Huei; Chen, Chiung C.; Chang, Hsiu‐Chen; Wu, Shey‐Lin; Yeh, Tu‐Hsueh; Weng, Yi‐Hsin; Elia, Antonio E.; Pan... Journal: Annals of neurology Issue: Volume 89:Issue 3(2021) Page Start: 485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetics of movement disorders in the next‐generation sequencing era. Issue 4 (22nd February 2016) Authors: Olgiati, Simone; Quadri, Marialuisa; Bonifati, Vincenzo Journal: Movement disorders Issue: Volume 31:Issue 4(2016) Page Start: 458 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family. (September 2019) Authors: Kuipers, Demy J.S.; Tufekcioglu, Zeynep; Bilgiç, Başar; Olgiati, Simone; Dremmen, Marjolein H.G.; van IJcken, Wilfred F.J.; Breedveld, Guido J.; Mancini, Grazia M.S.; Hanagasi, Haşmet A.; Emre, Murat; Bonifati, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 66(2019) Page Start: 228 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study. Issue 7 (July 2018) Authors: Quadri, Marialuisa; Mandemakers, Wim; Grochowska, Martyna M; Masius, Roy; Geut, Hanneke; Fabrizio, Edito; Breedveld, Guido J; Kuipers, Demy; Minneboo, Michelle; Vergouw, Leonie J M; Carreras Mascaro, Ana; Yonova-Doing, Ekaterina; Simons, Erik; Zhao, Tianna; Di Fonzo, Alessio B; Chang, Hsiu-Chen; ... Journal: Lancet neurology Issue: Volume 17:Issue 7(2018) Page Start: 597 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗