New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

מאת Puschmann, Andreas
הוצא לאור ב 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...

מאת Fujioka, Shinsuke, Puschmann, Andreas
הוצא לאור ב Parkinsonism Relat Disord (2020)

Diagnosis and Treatment of Common Forms of Tremor

מאת Puschmann, Andreas, Wszolek, Zbigniew K.
יצא לאור 2011

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

מאת Davidsson, Josef, Puschmann, Andreas, Tedgård, Ulf, Bryder, David, Nilsson, Lars, Cammenga, Jörg
הוצא לאור ב Leukemia (2018)

Autosomal dominant Parkinson’s disease caused by SNCA duplications

מאת Konno, Takuya, Ross, Owen A., Puschmann, Andreas, Dickson, Dennis W., Wszolek, Zbigniew K.
הוצא לאור ב Parkinsonism Relat Disord (2015)

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

מאת Hedera, Peter, Xiao, Jianfeng, Puschmann, Andreas, Momčilović, Dragana, Wu, Steve W, LeDoux, Mark S
יצא לאור 2012

Throat‐Clearing Vocalizations in Primary Brain Calcification Syndromes

מאת Mulroy, Eoin, Ilinca, Andreea, Gonzalez‐Robles, Cristina, Magrinelli, Francesca, Puschmann, Andreas, Bhatia, Kailash P.
הוצא לאור ב Mov Disord Clin Pract (2021)

An African-American Family with Dystonia

מאת Puschmann, Andreas, Xiao, Jianfeng, Bastian, Robert W., Searcy, Jill A., LeDoux, Mark S., Wszolek, Zbigniew K.
יצא לאור 2011

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

מאת Smith, Ruben, Puschmann, Andreas, Schöll, Michael, Ohlsson, Tomas, van Swieten, John, Honer, Michael, Englund, Elisabet, Hansson, Oskar
הוצא לאור ב Brain (2016)

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

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

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

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

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

מאת 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
יצא לאור 2012

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

מאת 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
הוצא לאור ב Alzheimers Res Ther (2018)

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

מאת 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
הוצא לאור ב Stroke (2020)

Improving the likelihood of neurology patients being examined using patient feedback

מאת 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
הוצא לאור ב BMJ Qual Improv Rep (2015)

Human leukocyte antigen variation and Parkinson’s disease

מאת 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.
יצא לאור 2011

LRRK2 variation and Parkinson's disease in African Americans

מאת 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.
יצא לאור 2010

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

מאת 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
יצא לאור 2011

Ataxia-pancytopenia syndrome with SAMD9L mutations

מאת 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
הוצא לאור ב Neurol Genet (2017)

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

מאת 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
יצא לאור 2013