檢索結果 - Bonifati, Vincenzo

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

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

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The genetics of Parkinson’s disease: progress and therapeutic implications 由 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 由 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 由 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... 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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) 由 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 由 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 由 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 由 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 由 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 由 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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