New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

by Puschmann, Andreas
Published in Curr Neurol Neurosci Rep (2017)

Abstracts of the IAPRD XXV World Congress on Parkinson's Disease and Related Disorders, 2020. Congress theme: Diagnosing and treating movement disorders in the era of personalized...

by Fujioka, Shinsuke, Puschmann, Andreas
Published in Parkinsonism Relat Disord (2020)

Diagnosis and Treatment of Common Forms of Tremor

by Puschmann, Andreas, Wszolek, Zbigniew K.
Published 2011

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies

by Davidsson, Josef, Puschmann, Andreas, Tedgård, Ulf, Bryder, David, Nilsson, Lars, Cammenga, Jörg
Published in Leukemia (2018)

Autosomal dominant Parkinson’s disease caused by SNCA duplications

by Konno, Takuya, Ross, Owen A., Puschmann, Andreas, Dickson, Dennis W., Wszolek, Zbigniew K.
Published in Parkinsonism Relat Disord (2015)

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

by Hedera, Peter, Xiao, Jianfeng, Puschmann, Andreas, Momčilović, Dragana, Wu, Steve W, LeDoux, Mark S
Published 2012

Throat‐Clearing Vocalizations in Primary Brain Calcification Syndromes

by Mulroy, Eoin, Ilinca, Andreea, Gonzalez‐Robles, Cristina, Magrinelli, Francesca, Puschmann, Andreas, Bhatia, Kailash P.
Published in Mov Disord Clin Pract (2021)

An African-American Family with Dystonia

by Puschmann, Andreas, Xiao, Jianfeng, Bastian, Robert W., Searcy, Jill A., LeDoux, Mark S., Wszolek, Zbigniew K.
Published 2011

(18)F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers

by Smith, Ruben, Puschmann, Andreas, Schöll, Michael, Ohlsson, Tomas, van Swieten, John, Honer, Michael, Englund, Elisabet, Hansson, Oskar
Published in Brain (2016)

MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor

by Ilinca, Andreea, Englund, Elisabet, Samuelsson, Sofie, Truvé, Katarina, Kafantari, Efthymia, Martinez-Majander, Nicolas, Putaala, Jukka, Håkansson, Claes, Lindgren, Arne G., Puschmann, Andreas
Published in Neurol Genet (2021)

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia

by Vemula, Satya R., Puschmann, Andreas, Xiao, Jianfeng, Zhao, Yu, Rudzińska, Monika, Frei, Karen P., Truong, Daniel D., Wszolek, Zbigniew K., LeDoux, Mark S.
Published 2013

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases

by LeDoux, Mark S., Xiao, Jianfeng, Rudzińska, Monika, Bastian, Robert W., Wszolek, Zbigniew K., Van Gerpen, Jay A., Puschmann, Andreas, Momčilović, Dragana, Vemula, Satya R., Zhao, Yu
Published 2012

Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review

by Ygland, Emil, van Westen, Danielle, Englund, Elisabet, Rademakers, Rosa, Wszolek, Zbigniew K., Nilsson, Karin, Nilsson, Christer, Landqvist Waldö, Maria, Alafuzoff, Irina, Hansson, Oskar, Gustafson, Lars, Puschmann, Andreas
Published in Alzheimers Res Ther (2018)

Whole exome sequencing in 22 young ischemic stroke patients with familial clustering of stroke

by Ilinca, Andreea, Martinez-Majander, Nicolas, Samuelsson, Sofie, Piccinelli, Paul, Truvé, Katarina, Cole, John, Kittner, Steven, Soller, Maria, Kristoffersson, Ulf, Tatlisumak, Turgut, Puschmann, Andreas, Putaala, Jukka, Lindgren, Arne
Published in Stroke (2020)

Improving the likelihood of neurology patients being examined using patient feedback

by Appleton, Jason Philip, Ilinca, Andreea, Lindgren, Arne, Puschmann, Andreas, Hbahbih, Majed, A. Siddiqui, Khurram, de Silva, Rajith, Jones, Matthew, Butterworth, Richard, willmot, mark, Hayton, Tom, Lunn, Michael, Nicholl, David
Published in BMJ Qual Improv Rep (2015)

Human leukocyte antigen variation and Parkinson’s disease

by Puschmann, Andreas, Verbeeck, Christophe, Heckman, Michael G., Soto-Ortolaza, Alexandra I., Lynch, Timothy, Jasinska-Myga, Barbara, Opala, Grzegorz, Krygowska-Wajs, Anna, Barcikowska, Maria, Uitti, Ryan J., Wszolek, Zbigniew K., Ross, Owen A.
Published 2011

LRRK2 variation and Parkinson's disease in African Americans

by Ross, Owen A., Wilhoite, Greggory J., Bacon, Justin A., Soto-Ortolaza, Alexandra, Kachergus, Jennifer, Cobb, Stephanie A., Puschmann, Andreas, Vilariño-Güell, Carles, Farrer, Matthew J., Graff-Radford, Neill, Meschia, James F., Wszolek, Zbigniew K.
Published 2010

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation

by Puschmann, Andreas, Englund, Elisabet, Ross, Owen A., Vilariño-Güell, Carles, Lincoln, Sarah J., Kachergus, Jennifer M., Cobb, Stephanie A., Törnqvist, Anna-Lena, Rehncrona, Stig, Widner, Håkan, Wszolek, Zbigniew K., Farrer, Matthew J., Nilsson, Christer
Published 2011

Ataxia-pancytopenia syndrome with SAMD9L mutations

by Gorcenco, Sorina, Komulainen-Ebrahim, Jonna, Nordborg, Karin, Suo-Palosaari, Maria, Andréasson, Sten, Krüger, Johanna, Nilsson, Christer, Kjellström, Ulrika, Rahikkala, Elisa, Turkiewicz, Dominik, Karlberg, Mikael, Nilsson, Lars, Cammenga, Jörg, Tedgård, Ulf, Davidsson, Josef, Uusimaa, Johanna, Puschmann, Andreas
Published in Neurol Genet (2017)

GWAS risk factors in Parkinson’s disease: LRRK2 coding variation and genetic interaction with PARK16

by Soto-Ortolaza, Alexandra I, Heckman, Michael G, Labbé, Catherine, Serie, Daniel J, Puschmann, Andreas, Rayaprolu, Sruti, Strongosky, Audrey, Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Krygowska-Wajs, Anna, Barcikowska, Maria, Czyzewski, Krzysztof, Lynch, Timothy, Uitti, Ryan J, Wszolek, Zbigniew K, Ross, Owen A
Published 2013