New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Autor Puschmann, Andreas
Vydáno v 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...

Autor Fujioka, Shinsuke, Puschmann, Andreas
Vydáno v Parkinsonism Relat Disord (2020)

Diagnosis and Treatment of Common Forms of Tremor

Autor Puschmann, Andreas, Wszolek, Zbigniew K.
Vydáno 2011

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

Autor Davidsson, Josef, Puschmann, Andreas, Tedgård, Ulf, Bryder, David, Nilsson, Lars, Cammenga, Jörg
Vydáno v Leukemia (2018)

Autosomal dominant Parkinson’s disease caused by SNCA duplications

Autor Konno, Takuya, Ross, Owen A., Puschmann, Andreas, Dickson, Dennis W., Wszolek, Zbigniew K.
Vydáno v Parkinsonism Relat Disord (2015)

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

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

Throat‐Clearing Vocalizations in Primary Brain Calcification Syndromes

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

An African-American Family with Dystonia

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

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

Autor Smith, Ruben, Puschmann, Andreas, Schöll, Michael, Ohlsson, Tomas, van Swieten, John, Honer, Michael, Englund, Elisabet, Hansson, Oskar
Vydáno v Brain (2016)

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

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

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

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

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

Autor 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
Vydáno 2012

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

Autor 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
Vydáno v Alzheimers Res Ther (2018)

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

Autor 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
Vydáno v Stroke (2020)

Improving the likelihood of neurology patients being examined using patient feedback

Autor 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
Vydáno v BMJ Qual Improv Rep (2015)

Human leukocyte antigen variation and Parkinson’s disease

Autor 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.
Vydáno 2011

LRRK2 variation and Parkinson's disease in African Americans

Autor 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.
Vydáno 2010

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

Autor 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
Vydáno 2011

Ataxia-pancytopenia syndrome with SAMD9L mutations

Autor 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
Vydáno v Neurol Genet (2017)

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

Autor 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
Vydáno 2013