New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

по Puschmann, Andreas
Опубликовано в: 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...

по Fujioka, Shinsuke, Puschmann, Andreas
Опубликовано в: Parkinsonism Relat Disord (2020)

Diagnosis and Treatment of Common Forms of Tremor

по Puschmann, Andreas, Wszolek, Zbigniew K.
Опубликовано 2011

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

по Davidsson, Josef, Puschmann, Andreas, Tedgård, Ulf, Bryder, David, Nilsson, Lars, Cammenga, Jörg
Опубликовано в: Leukemia (2018)

Autosomal dominant Parkinson’s disease caused by SNCA duplications

по Konno, Takuya, Ross, Owen A., Puschmann, Andreas, Dickson, Dennis W., Wszolek, Zbigniew K.
Опубликовано в: Parkinsonism Relat Disord (2015)

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

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

Throat‐Clearing Vocalizations in Primary Brain Calcification Syndromes

по Mulroy, Eoin, Ilinca, Andreea, Gonzalez‐Robles, Cristina, Magrinelli, Francesca, Puschmann, Andreas, Bhatia, Kailash P.
Опубликовано в: Mov Disord Clin Pract (2021)

An African-American Family with Dystonia

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

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

по Smith, Ruben, Puschmann, Andreas, Schöll, Michael, Ohlsson, Tomas, van Swieten, John, Honer, Michael, Englund, Elisabet, Hansson, Oskar
Опубликовано в: Brain (2016)

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

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

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

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

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

по 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
Опубликовано 2012

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

по 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
Опубликовано в: Alzheimers Res Ther (2018)

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

по 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
Опубликовано в: Stroke (2020)

Improving the likelihood of neurology patients being examined using patient feedback

по 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
Опубликовано в: BMJ Qual Improv Rep (2015)

Human leukocyte antigen variation and Parkinson’s disease

по 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.
Опубликовано 2011

LRRK2 variation and Parkinson's disease in African Americans

по 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.
Опубликовано 2010

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

по 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
Опубликовано 2011

Ataxia-pancytopenia syndrome with SAMD9L mutations

по 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
Опубликовано в: Neurol Genet (2017)

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

по 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
Опубликовано 2013