Výsledky vyhledávání - Bonifati, Vincenzo

Will New Genetic Techniques Like Exome Sequencing and Others Obviate the Need for Clinical Expertise? Yes Autor Bonifati, Vincenzo

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How Do I Assess a Family Tree for Inheritance Patterns? Autor Kievit, Anneke, Bonifati, Vincenzo

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The genetics of Parkinson’s disease: progress and therapeutic implications Autor Singleton, Andrew B., Farrer, Matthew J., Bonifati, Vincenzo

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Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia Autor Jain, Puneet, Sharma, Suvasini, Breedveld, Guido, Bonifati, Vincenzo, Aneja, Satinder

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Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred Autor Breedveld, Guido J., Fabbrini, Giovanni, Oostra, Ben A., Berardelli, Alfredo, Bonifati, Vincenzo

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Correcting Differential Gene Expression Analysis for Cyto—Architectural Alterations in Substantia Nigra of Parkinson’s Disease Patients Reveals Known and Potential Novel Disease—As... Autor Ferraro, Federico, Fevga, Christina, Bonifati, Vincenzo, Mandemakers, Wim, Mahfouz, Ahmed, Reinders, Marcel

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AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia Autor Fevga, Christina, Ferraro, Federico, Breedveld, Guido J., Savant Sankhla, Charulata, Bonifati, Vincenzo

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Dopaminergic Neuronal Loss and Dopamine-Dependent Locomotor Defects in Fbxo7-Deficient Zebrafish Autor Zhao, Tianna, Zondervan-van der Linde, Herma, Severijnen, Lies-Anne, Oostra, Ben A., Willemsen, Rob, Bonifati, Vincenzo

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Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease Autor den Heijer, Jonas M., van Hilten, Jacobus J., Kievit, Anneke J.A., Bonifati, Vincenzo, Groeneveld, Geert Jan

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A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis Autor Bouwkamp, Christian G., Kievit, Anneke J. A., Olgiati, Simone, Breedveld, Guido J., Coesmans, Michiel, Bonifati, Vincenzo, Kushner, Steven A.

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False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance Autor den Heijer, Jonas M., Schmitz, Arnoud, Lansbury, Peter, Cullen, Valerie C., Hilt, Dana C., Bonifati, Vincenzo, Groeneveld, Geert Jan

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Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia Autor Quadri, Marialuisa, Cossu, Giovanni, Saddi, Valeria, Simons, Erik J., Murgia, Daniela, Melis, Maurizio, Ticca, Anna, Oostra, Ben A., Bonifati, Vincenzo

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Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers Autor Picillo, Marina, De Rosa, Anna, Pellecchia, Maria Teresa, Criscuolo, Chiara, Amboni, Marianna, Erro, Roberto, Bonifati, Vincenzo, De Michele, Giuseppe, Barone, Paolo

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Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability Autor Santoro, Lucio, Breedveld, Guido J., Manganelli, Fiore, Iodice, Rosa, Pisciotta, Chiara, Nolano, Maria, Punzo, Francesca, Quarantelli, Mario, Pappatà, Sabina, Di Fonzo, Alessio, Oostra, Ben A., Bonifati, Vincenzo

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Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15) Autor Zhao, Tianna, De Graaff, Esther, Breedveld, Guido J., Loda, Agnese, Severijnen, Lies-Anne, Wouters, Cokkie H., Verheijen, Frans W., Dekker, Marieke C. J., Montagna, Pasquale, Willemsen, Rob, Oostra, Ben A., Bonifati, Vincenzo

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Family History is Associated with Phenotype in Dementia with Lewy Bodies Autor Vergouw, Leonie J.M., Bosman, Brechje, van de Beek, Marleen, Salomé, Mariet, Hoogers, Susanne E., van Steenoven, Inger, Roks, Gerwin, Bonifati, Vincenzo, van Swieten, John C., Lemstra, Afina W., de Jong, Frank Jan

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Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia Autor Vergouw, Leonie J. M., Geut, Hanneke, Breedveld, Guido, Kuipers, Demy J. S., Quadri, Marialuisa, Rozemuller, Annemieke J. M., van Swieten, John C., de Jong, Frank Jan, van de Berg, Wilma D. J., Bonifati, Vincenzo

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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism Autor Ross, Owen A., Spanaki, Cleanthe, Griffith, Alida, Lin, Chin-Hsien, Kachergus, Jennifer, Haugarvoll, Kristoffer, Latsoudis, Helen, Plaitakis, Andreas, Ferreira, Joaquim J., Sampaio, Cristina, Bonifati, Vincenzo, Wu, Ruey-Meei, Zabetian, Cyrus P., Farrer, Matthew J.

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Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations Autor Fasano, Dominga, Parisi, Silvia, Pierantoni, Giovanna Maria, De Rosa, Anna, Picillo, Marina, Amodio, Giuseppina, Pellecchia, Maria Teresa, Barone, Paolo, Moltedo, Ornella, Bonifati, Vincenzo, De Michele, Giuseppe, Nitsch, Lucio, Remondelli, Paolo, Criscuolo, Chiara, Paladino, Simona

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Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies Autor 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.

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