Search Results - "Quadri, Marialuisa"

Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes by Shahmoradian, Sarah H., Lewis, Amanda J., Genoud, Christel, Hench, Jürgen, Moors, Tim E., Navarro, Paula P., Castaño-Díez, Daniel, Schweighauser, Gabriel, Graff-Meyer, Alexandra, Goldie, Kenneth N., Sütterlin, Rosmarie, Huisman, Evelien, Ingrassia, Angela, Gier, Yvonne de, Rozemuller, Annemieke J. M., Wang, Jing, Paepe, Anne De, Erny, Johannes, Staempfli, Andreas, Hoernschemeyer, Joerg, Großerüschkamp, Frederik, Niedieker, Daniel, El-Mashtoly, Samir F., Quadri, Marialuisa, Van IJcken, Wilfred F. J., Bonifati, Vincenzo, Gerwert, Klaus, Bohrmann, Bernd, Frank, Stephan, Britschgi, Markus, Stahlberg, Henning, Van de Berg, Wilma D. J., Lauer, Matthias E.

“…Parkinson’s disease, the most common age-related movement disorder, is a progressive neurodegenerative disease with unclear etiology. Key neuropathological…”
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Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia by de Vrij, Femke M., Bouwkamp, Christian G., Gunhanlar, Nilhan, Shpak, Guy, Lendemeijer, Bas, Baghdadi, Maarouf, Gopalakrishna, Shreekara, Ghazvini, Mehrnaz, Li, Tracy M., Quadri, Marialuisa, Olgiati, Simone, Breedveld, Guido J., Coesmans, Michiel, Mientjes, Edwin, de Wit, Ton, Verheijen, Frans W., Beverloo, H. Berna, Cohen, Dan, Kok, Rob M., Bakker, P. Roberto, Nijburg, Aviva, Spijker, Annet T., Haffmans, P. M. Judith, Hoencamp, Erik, Bergink, Veerle, Vorstman, Jacob A., Wu, Timothy, Olde Loohuis, Loes M., Amin, Najaf, Langen, Carolyn D., Hofman, Albert, Hoogendijk, Witte J., van Duijn, Cornelia M., Ikram, M. Arfan, Vernooij, Meike W., Tiemeier, Henning, Uitterlinden, André G., Elgersma, Ype, Distel, Ben, Gribnau, Joost, White, Tonya, Bonifati, Vincenzo, Kushner, Steven A.

“…Schizophrenia is highly heritable, yet its underlying pathophysiology remains largely unknown. Among the most well-replicated findings in neurobiological…”
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PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family by 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

“…SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism…”
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Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes by 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

“…ABSTRACT Background SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early‐onset dystonia,…”
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Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family by Olgiati, Simone, Thomas, Astrid, Quadri, Marialuisa, Breedveld, Guido J, Graafland, Josja, Eussen, Hubertus, Douben, Hannie, de Klein, Annelies, Onofrj, Marco, Bonifati, Vincenzo

“…Abstract Introduction Triplications of SNCA , the gene encoding for α-synuclein, cause a very rare Mendelian form of early-onset parkinsonism combined with…”
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Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia by Quadri, Marialuisa, Cossu, Giovanni, Saddi, Valeria, Simons, Erik J., Murgia, Daniela, Melis, Maurizio, Ticca, Anna, Oostra, Ben A., Bonifati, Vincenzo

“…Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they…”
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Genetics of movement disorders in the next-generation sequencing era by Olgiati, Simone, Quadri, Marialuisa, Bonifati, Vincenzo

“…ABSTRACT Several innovative and extremely powerful methods for sequencing nucleic acids (DNA and RNA), collectively known as next‐generation sequencing…”
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TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease? by Mandemakers, Wim, Quadri, Marialuisa, Stamelou, Maria, Bonifati, Vincenzo

“…ABSTRACT Mutations in the transmembrane protein 230 (TMEM230) gene were recently identified in a large Canadian pedigree and 7 smaller Chinese families,…”
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Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies by Moors, Tim E., Paciotti, Silvia, Ingrassia, Angela, Quadri, Marialuisa, Breedveld, Guido, Tasegian, Anna, Chiasserini, Davide, Eusebi, Paolo, Duran-Pacheco, Gonzalo, Kremer, Thomas, Calabresi, Paolo, Bonifati, Vincenzo, Parnetti, Lucilla, Beccari, Tommaso, van de Berg, Wilma D. J.

“…Mutations in the GBA gene, encoding the lysosomal hydrolase glucocerebrosidase (GCase), are the most common known genetic risk factor for Parkinson’s disease…”
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Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease by Quadri, Marialuisa, Federico, Antonio, Zhao, Tianna, Breedveld, Guido J., Battisti, Carla, Delnooz, Cathérine, Severijnen, Lies-Anne, Di Toro Mammarella, Lara, Mignarri, Andrea, Monti, Lucia, Sanna, Antioco, Lu, Peng, Punzo, Francesca, Cossu, Giovanni, Willemsen, Rob, Rasi, Fabrizio, Oostra, Ben A., van de Warrenburg, Bart P., Bonifati, Vincenzo

“…Manganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but…”
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LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study by Quadri, Marialuisa, Mandemakers, Wim, Grochowska, Martyna M, Masius, Roy, Geut, Hanneke, Fabrizio, Edito, Kuipers, Demy, Minneboo, Michelle, Vergouw, Leonie J M, Yonova-Doing, Ekaterina, Simons, Erik, Zhao, Tianna, Chang, Hsiu-Chen, Parchi, Piero, Correia Guedes, Leonor, Thomas, Astrid, Brouwer, Rutger W W, Heijsman, Daphne, Ingrassia, Angela M T, Calandra Buonaura, Giovanna, Sarchioto, Marianna, Vanacore, Nicola, Olgiati, Simone, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Boon, Agnita J W, Hoogers, Susanne E, Ghazvini, Mehrnaz, IJpma, Arne S, van IJcken, Wilfred F J, Onofrj, Marco, Barone, Paolo, Nicholl, David J, De Mari, Michele, Barbosa, Egberto, De Michele, Giuseppe, Majoor-Krakauer, Danielle, van Swieten, John C, de Jong, Frank J, Ferreira, Joaquim J, Lu, Chin-Song, Meco, Giuseppe, Cortelli, Pietro, van de Berg, Wilma D J, Bonifati, Vincenzo, Mandemakers, Wim, Boon, Agnita J.W., Rood, Janneke P.A, Vergouw, Leonie J.M., de Jong, Frank J., van Swieten, John C., Mattace-Raso, Francesco U.S., Leenders, Klaus L., Ferreira, Joaquim J., Correia Guedes, Leonor, Puschmann, Andreas, Ygland, Emil, Nilsson, Christer, Chien, Hsin F., Barbosa, Egberto, Bannach Jardim, Laura, Rieder, Carlos R.M., Chang, Hsiu-Chen, Lu, Chin-Song, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Tassorelli, Cristina, Pacchetti, Claudio, Riboldazzi, Giulio, Bono, Giorgio, Comi, Cristoforo, Padovani, Alessandro, Borroni, Barbara, Raudino, Francesco, Tinazzi, Michele, Ferracci, Carlo, Dalla Libera, Alessio, Abbruzzese, Giovanni, Cortelli, Pietro, Marconi, Roberto, Guidi, Marco, Onofrj, Marco, Thomas, Astrid, Vanacore, Nicola, Meco, Giuseppe, Fabbrini, Giovanni, Berardelli, Alfredo, Stocchi, Fabrizio, Barone, Paolo, Picillo, Marina, De Michele, Giuseppe, De Mari, Michele, Dell'Aquila, Claudia, Iliceto, Gianni, Toni, Vincenzo, Trianni, Giorgio, Annesi, Grazia, Saddi, Valeria, Cossu, Gianni, Melis, Maurizio

“…Most patients with Parkinson's disease, Parkinson's disease dementia, and dementia with Lewy bodies do not carry mutations in known disease-causing genes. The…”
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LRP10 in α-synucleinopathies – Authors' reply by Quadri, Marialuisa, Mandemakers, Wim, Kuipers, Demy, Breedveld, Guido J, Bonifati, Vincenzo

“…[...]highly penetrant variants that cause autosomal dominant diseases are usually not observed among individuals with sporadic disease. [...]we argue that the…”
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Safety and immunogenicity of 2-dose heterologous Ad26.ZEBOV, MVA-BN-Filo Ebola vaccination in healthy and HIV-infected adults: A randomised, placebo-controlled Phase II clinical trial in Africa by Barry, Houreratou, Mutua, Gaudensia, Kibuuka, Hannah, Anywaine, Zacchaeus, Sirima, Sodiomon B, Meda, Nicolas, Anzala, Omu, Eholie, Serge, Bétard, Christine, Richert, Laura, Lacabaratz, Christine, McElrath, M Juliana, De Rosa, Stephen, Cohen, Kristen W, Shukarev, Georgi, Robinson, Cynthia, Gaddah, Auguste, Heerwegh, Dirk, Bockstal, Viki, Luhn, Kerstin, Leyssen, Maarten, Douoguih, Macaya, Thiébaut, Rodolphe

“…We investigated safety, tolerability, and immunogenicity of the heterologous 2-dose Ebola vaccination regimen in healthy and HIV-infected adults with different…”
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DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease by 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, Mandemakers, Wim, Barbosa, Egberto Reis, Rieder, Carlos R.M., Leenders, Klaus L., Wang, Jun, Bonifati, Vincenzo

“…Objective DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs,…”
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Reply by Olgiati, Simone, Quadri, Marialuisa, Mandemakers, Wim, Bonifati, Vincenzo

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Reply by Olgiati, Simone, Quadri, Marialuisa, Mandemakers, Wim, Bonifati, Vincenzo

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Reply by Olgiati, Simone, Quadri, Marialuisa, Mandemakers, Wim, Bonifati, Vincenzo

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Reply by Olgiati, Simone, Quadri, Marialuisa, Mandemakers, Wim, Bonifati, Vincenzo

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Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism by 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

“…ABSTRACT Autosomal recessive, early‐onset Parkinsonism is clinically and genetically heterogeneous. Here, we report the identification, by homozygosity mapping…”
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PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family by Quadri, Marialuisa, Olgiati, Simone, Sensi, Mariachiara, Gualandi, Francesca, Groppo, Elisabetta, Rispoli, Vittorio, Graafland, Josja, Breedveld, Guido J., Fabbrini, Giovanni, Berardelli, Alfredo, Bonifati, Vincenzo

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