New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Por Puschmann, Andreas
Publicado no 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...

Por Fujioka, Shinsuke, Puschmann, Andreas
Publicado no Parkinsonism Relat Disord (2020)

Diagnosis and Treatment of Common Forms of Tremor

Por Puschmann, Andreas, Wszolek, Zbigniew K.
Publicado em 2011

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

Por Davidsson, Josef, Puschmann, Andreas, Tedgård, Ulf, Bryder, David, Nilsson, Lars, Cammenga, Jörg
Publicado no Leukemia (2018)

Autosomal dominant Parkinson’s disease caused by SNCA duplications

Por Konno, Takuya, Ross, Owen A., Puschmann, Andreas, Dickson, Dennis W., Wszolek, Zbigniew K.
Publicado no Parkinsonism Relat Disord (2015)

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

Por Hedera, Peter, Xiao, Jianfeng, Puschmann, Andreas, Momčilović, Dragana, Wu, Steve W, LeDoux, Mark S
Publicado em 2012

An African-American Family with Dystonia

Por Puschmann, Andreas, Xiao, Jianfeng, Bastian, Robert W., Searcy, Jill A., LeDoux, Mark S., Wszolek, Zbigniew K.
Publicado em 2011

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

Por Smith, Ruben, Puschmann, Andreas, Schöll, Michael, Ohlsson, Tomas, van Swieten, John, Honer, Michael, Englund, Elisabet, Hansson, Oskar
Publicado no Brain (2016)

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

Por Ilinca, Andreea, Englund, Elisabet, Samuelsson, Sofie, Truvé, Katarina, Kafantari, Efthymia, Martinez-Majander, Nicolas, Putaala, Jukka, Håkansson, Claes, Lindgren, Arne G., Puschmann, Andreas
Publicado no Neurol Genet (2021)

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

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

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

Por 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
Publicado em 2012

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

Por 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
Publicado no Alzheimers Res Ther (2018)

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

Por 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
Publicado no Stroke (2020)

Improving the likelihood of neurology patients being examined using patient feedback

Por 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
Publicado no BMJ Qual Improv Rep (2015)

Human leukocyte antigen variation and Parkinson’s disease

Por 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.
Publicado em 2011

LRRK2 variation and Parkinson's disease in African Americans

Por 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.
Publicado em 2010

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

Por 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
Publicado em 2011

Ataxia-pancytopenia syndrome with SAMD9L mutations

Por 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
Publicado no Neurol Genet (2017)

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

Por 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
Publicado em 2013

Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden

Por Ran, Caroline, Brodin, Lovisa, Forsgren, Lars, Westerlund, Marie, Ramezani, Mehrafarin, Gellhaar, Sandra, Xiang, Fengqing, Fardell, Camilla, Nissbrandt, Hans, Söderkvist, Peter, Puschmann, Andreas, Ygland, Emil, Olson, Lars, Willows, Thomas, Johansson, Anders, Sydow, Olof, Wirdefeldt, Karin, Galter, Dagmar, Svenningsson, Per, Belin, Andrea Carmine
Publicado no Neurobiol Aging (2016)