Zoekresultaten - Bonifati, Vincenzo

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability door 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

Volledige tekst Volledige tekst Volledige tekst

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15) door 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

Volledige tekst Volledige tekst Volledige tekst

Family History is Associated with Phenotype in Dementia with Lewy Bodies door 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

Volledige tekst Volledige tekst Volledige tekst

Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia door 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

Volledige tekst Volledige tekst Volledige tekst

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism door 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.

Volledige tekst Volledige tekst Volledige tekst

Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations door 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

Volledige tekst Volledige tekst Volledige tekst

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

Volledige tekst Volledige tekst Volledige tekst