Proline-rich Transmembrane Protein 2 Gene Mutation in a Sporadic Paroxysmal Kinesigenic Dyskinesia

por Jain, Puneet, Sharma, Suvasini, Breedveld, Guido, Bonifati, Vincenzo, Aneja, Satinder
Publicado 2017

Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred

por Breedveld, Guido J., Fabbrini, Giovanni, Oostra, Ben A., Berardelli, Alfredo, Bonifati, Vincenzo
Publicado 2010

Correcting Differential Gene Expression Analysis for Cyto—Architectural Alterations in Substantia Nigra of Parkinson’s Disease Patients Reveals Known and Potential Novel Disease—As...

por Ferraro, Federico, Fevga, Christina, Bonifati, Vincenzo, Mandemakers, Wim, Mahfouz, Ahmed, Reinders, Marcel
Publicado 2022

AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia

por Fevga, Christina, Ferraro, Federico, Breedveld, Guido J., Savant Sankhla, Charulata, Bonifati, Vincenzo
Publicado 2022

Dopaminergic Neuronal Loss and Dopamine-Dependent Locomotor Defects in Fbxo7-Deficient Zebrafish

por Zhao, Tianna, Zondervan-van der Linde, Herma, Severijnen, Lies-Anne, Oostra, Ben A., Willemsen, Rob, Bonifati, Vincenzo
Publicado 2012

Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease

por den Heijer, Jonas M., van Hilten, Jacobus J., Kievit, Anneke J.A., Bonifati, Vincenzo, Groeneveld, Geert Jan
Publicado 2020

A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis

por Bouwkamp, Christian G., Kievit, Anneke J. A., Olgiati, Simone, Breedveld, Guido J., Coesmans, Michiel, Bonifati, Vincenzo, Kushner, Steven A.
Publicado 2016

False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

por den Heijer, Jonas M., Schmitz, Arnoud, Lansbury, Peter, Cullen, Valerie C., Hilt, Dana C., Bonifati, Vincenzo, Groeneveld, Geert Jan
Publicado 2021

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

por Quadri, Marialuisa, Cossu, Giovanni, Saddi, Valeria, Simons, Erik J., Murgia, Daniela, Melis, Maurizio, Ticca, Anna, Oostra, Ben A., Bonifati, Vincenzo
Publicado 2011

deCLUTTER(2+) – a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes

por Grochowska, Martyna M., Ferraro, Federico, Mascaro, Ana Carreras, Natale, Domenico, Winkelaar, Amber, Boumeester, Valerie, Breedveld, Guido J., Bonifati, Vincenzo, Mandemakers, Wim
Publicado 2023

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

por 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
Publicado 2010

A LRSAM1 mutation links Charcot–Marie–Tooth type 2 to Parkinson's disease

por Aerts, Marjolein B., Weterman, Marian A. J., Quadri, Marialuisa, Schelhaas, H. Jurgen, Bloem, Bastiaan R., Esselink, Rianne A., Baas, Frank, Bonifati, Vincenzo, van de Warrenburg, Bart P.
Publicado 2015

Family History for Neurodegeneration in Multiple System Atrophy: Does it Indicate Susceptibility?

por Leys, Fabian, Eschlböck, Sabine, Campese, Nicole, Mahlknecht, Philipp, Peball, Marina, Goebel, Georg, Sidoroff, Victoria, Granata, Roberta, Bonifati, Vincenzo, Zschocke, Johannes, Kiechl, Stefan, Poewe, Werner, Seppi, Klaus, Wenning, Gregor K., Fanciulli, Alessandra
Publicado 2022

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

por 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
Publicado 2011

Family History is Associated with Phenotype in Dementia with Lewy Bodies

por 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
Publicado 2020

Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia

por 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
Publicado 2020

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

por 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
Publicado 2018

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

por 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.
Publicado 2018

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson’s disease

por Fevga, Christina, Park, Yangshin, Lohmann, Ebba, Kievit, Anneke J., Breedveld, Guido J., Ferraro, Federico, de Boer, Leon, van Minkelen, Rick, Hanagasi, Hasmet, Boon, Agnita, Wang, Wei, Petsko, Gregory A., Hoang, Quyen Q., Emre, Murat, Bonifati, Vincenzo
Publicado 2021

Parkinson’s disease protein DJ-1 regulates ATP synthase protein components to increase neuronal process outgrowth

por Chen, Rongmin, Park, Han-A, Mnatsakanyan, Nelli, Niu, Yulong, Licznerski, Pawel, Wu, Jing, Miranda, Paige, Graham, Morven, Tang, Jack, Boon, Agnita J. W., Cossu, Giovanni, Mandemakers, Wim, Bonifati, Vincenzo, Smith, Peter J. S., Alavian, Kambiz N., Jonas, Elizabeth A.
Publicado 2019