PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family
Olgiati, Simone, De Rosa, Anna, Quadri, Marialuisa, Criscuolo, Chiara, Breedveld, Guido J., Picillo, Marina, Pappatà, Sabina, Quarantelli, Mario, Barone, Paolo, De Michele, Giuseppe, Bonifati, Vincenzo
Published in Neurogenetics (01.08.2014)
Published in Neurogenetics (01.08.2014)
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Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes
Quadri, Marialuisa, Kamate, Mahesh, Sharma, Suvasini, Olgiati, Simone, Graafland, Josja, Breedveld, Guido J., Kori, Indu, Hattiholi, Virupaxi, Jain, Puneet, Aneja, Satinder, Kumar, Atin, Gulati, Parveen, Goel, Medha, Talukdar, Bibek, Bonifati, Vincenzo
Published in Movement disorders (01.06.2015)
Published in Movement disorders (01.06.2015)
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Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family
Olgiati, Simone, Thomas, Astrid, Quadri, Marialuisa, Breedveld, Guido J, Graafland, Josja, Eussen, Hubertus, Douben, Hannie, de Klein, Annelies, Onofrj, Marco, Bonifati, Vincenzo
Published in Parkinsonism & related disorders (01.08.2015)
Published in Parkinsonism & related disorders (01.08.2015)
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Journal Article
Genetics of movement disorders in the next-generation sequencing era
Olgiati, Simone, Quadri, Marialuisa, Bonifati, Vincenzo
Published in Movement disorders (01.04.2016)
Published in Movement disorders (01.04.2016)
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Olgiati, Simone, Quadri, Marialuisa, Mandemakers, Wim, Bonifati, Vincenzo
Published in Annals of neurology (01.02.2016)
Published in Annals of neurology (01.02.2016)
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Olgiati, Simone, Quadri, Marialuisa, Mandemakers, Wim, Bonifati, Vincenzo
Published in Annals of neurology (01.02.2016)
Published in Annals of neurology (01.02.2016)
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Olgiati, Simone, Quadri, Marialuisa, Mandemakers, Wim, Bonifati, Vincenzo
Published in Annals of neurology (01.02.2016)
Published in Annals of neurology (01.02.2016)
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Olgiati, Simone, Quadri, Marialuisa, Mandemakers, Wim, Bonifati, Vincenzo
Published in Annals of neurology (01.02.2016)
Published in Annals of neurology (01.02.2016)
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Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism
Quadri, Marialuisa, Fang, Mingyan, Picillo, Marina, Olgiati, Simone, Breedveld, Guido J., Graafland, Josja, Wu, Bin, Xu, Fengping, Erro, Roberto, Amboni, Marianna, Pappatà, Sabina, Quarantelli, Mario, Annesi, Grazia, Quattrone, Aldo, Chien, Hsin F., Barbosa, Egberto R., Oostra, Ben A., Barone, Paolo, Wang, Jun, Bonifati, Vincenzo
Published in Human mutation (01.09.2013)
Published in Human mutation (01.09.2013)
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PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family
Quadri, Marialuisa, Olgiati, Simone, Sensi, Mariachiara, Gualandi, Francesca, Groppo, Elisabetta, Rispoli, Vittorio, Graafland, Josja, Breedveld, Guido J., Fabbrini, Giovanni, Berardelli, Alfredo, Bonifati, Vincenzo
Published in Movement disorders (01.05.2016)
Published in Movement disorders (01.05.2016)
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EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
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., Panteghini, Celeste, Marotta, Nicolas, Pauly, Martje G., Kühn, Andrea A., Volkmann, Jens, Lace, Baiba, Meijer, Inge A., Kandaswamy, Krishna, Quadri, Marialuisa, Garavaglia, Barbara, Lohmann, Katja, Bauer, Peter, Mencacci, Niccolò E., Lubbe, Steven J., Klein, Christine, Bertoli‐Avella, Aida M., Bonifati, Vincenzo
Published in Annals of neurology (01.03.2021)
Published in Annals of neurology (01.03.2021)
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A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism
Yalcin-Cakmakli, Gul, Olgiati, Simone, Quadri, Marialuisa, Breedveld, Guido J, Cortelli, Pietro, Bonifati, Vincenzo, Elibol, Bulent
Published in Parkinsonism & related disorders (01.11.2014)
Published in Parkinsonism & related disorders (01.11.2014)
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Discovery and verification of panels of T-lymphocyte proteins as biomarkers of Parkinson's disease
Alberio, Tiziana, Pippione, Agnese C., Zibetti, Maurizio, Olgiati, Simone, Cecconi, Daniela, Comi, Cristoforo, Lopiano, Leonardo, Fasano, Mauro
Published in Scientific reports (11.12.2012)
Published in Scientific reports (11.12.2012)
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The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN
Olgiati, Simone, Doğu, Okan, Tufekcioglu, Zeynep, Diler, Yunus, Saka, Esen, Gultekin, Murat, Kaleagasi, Hakan, Kuipers, Demy, Graafland, Josja, Breedveld, Guido J, Quadri, Marialuisa, Sürmeli, Reyhan, Sünter, Gülin, Doğan, Tuğrul, Yalçın, Ayşe Destina, Bilgiç, Başar, Elibol, Bülent, Emre, Murat, Hanagasi, Hasmet A, Bonifati, Vincenzo
Published in Parkinsonism & related disorders (01.06.2017)
Published in Parkinsonism & related disorders (01.06.2017)
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Dopaminergic therapies modulate the T-CELL proteome of patients with Parkinson's disease
Alberio, Tiziana, Pippione, Agnese C, Comi, Cristoforo, Olgiati, Simone, Cecconi, Daniela, Zibetti, Maurizio, Lopiano, Leonardo, Fasano, Mauro
Published in IUBMB life (01.10.2012)
Published in IUBMB life (01.10.2012)
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Primary familial brain calcification: Genetic analysis and clinical spectrum
Taglia, Ilaria, Mignarri, Andrea, Olgiati, Simone, Menci, Elisabetta, Petrocelli, Patrizia L., Breedveld, Guido J., Scaglione, Cesa, Martinelli, Paolo, Federico, Antonio, Bonifati, Vincenzo, Dotti, Maria Teresa
Published in Movement disorders (01.11.2014)
Published in Movement disorders (01.11.2014)
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Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis
Bouwkamp, Christian G., Kievit, Anneke J. A., Olgiati, Simone, Breedveld, Guido J., Coesmans, Michiel, Bonifati, Vincenzo, Kushner, Steven A.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
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Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family
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
Published in Parkinsonism & related disorders (01.09.2019)
Published in Parkinsonism & related disorders (01.09.2019)
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