Clinical Neurogenetics

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2017
Mark PBB3 imaging in Parkinsonian disorders : Evidence for binding to tau and other proteins
Perez-Soriano, Alexandra ; Arena, Julieta E ; Dinelle, Katie ; Miao, Qing ; McKenzie, Jessamyn ; Neilson, Nicole ; Puschmann, Andreas ^LU ; Schaffer, Paul ; Shinotoh, Hitoshi and Smith-Forrester, Jenna , et al. (2017) In Movement Disorders 32(7). p.1016-1024
- Contribution to journal › Article
Mark Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
Tesi, Bianca ; Davidsson, Josef ^LU ; Voss, Matthias ; Rahikkala, Elisa ; Holmes, Tim D ; Chiang, Samuel C C ; Komulainen-Ebrahim, Jonna ; Gorcenco, Sorina ^LU ; Rundberg Nilsson, Alexandra ^LU and Ripperger, Tim , et al. (2017) In Blood 129(16). p.2266-2279
- Contribution to journal › Article
Mark Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism
Puschmann, Andreas ^LU ; Fiesel, Fabienne C ; Caulfield, Thomas R ; Hudec, Roman ; Ando, Maya ; Truban, Dominika ; Hou, Xu ; Ogaki, Kotaro ; Heckman, Michael G. and James, Elle D , et al. (2017) In Brain 140(1). p.98-117
- Contribution to journal › Article
Mark New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism
Puschmann, Andreas ^LU (2017) In Current Neurology and Neuroscience Reports 17. p.1-11
- Contribution to journal › Scientific review
Mark PBB3 Imaging in Parkinsonian disorders: Evidence for binding to abnormally aggregated proteins in addition to tau proteins
Perez-Soriano, Alexandra ; Arena, Julieta E ; Sossi, Vesna ; Dinelle, Katie ; Miao, Q. ; McKenzie, Christine J. ; Neilson, Nicole ; Puschmann, A. ^LU ; Schaffer, Paul and Shinotoh, Hitoshi , et al. (2017) 21st International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 32(Suppl 2). p.585-587
- Contribution to journal › Published meeting abstract
Mark Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder
Puschmann, Andreas ^LU ; Fiesel, Fabienne C ; Caulfield, Thomas R ; Hudec, Roman ; Ando, Maya ; Truban, Dominika ; Hou, Xu ; Ogaki, Kotaro ; Heckman, Michael G. and James, Elle D , et al. (2017) In Brain 140(6). p.33-33
- Contribution to journal › Letter
Mark Ataxia-pancytopenia syndrome with SAMD9L mutations
Gorcenco, Sorina ^LU ; Komulainen-Ebrahim, Jonna ; Nordborg, Karin ; Suo-Palosaari, Maria ; Andréasson, Sten ^LU ; Krüger, Johanna ; Nilsson, Christer ^LU ; Kjellström, Ulrika ^LU ; Rahikkala, Elisa and Turkiewicz, Dominik , et al. (2017) In Neurology: Genetics 3(5).
- Contribution to journal › Article
2016
Mark Autosomal dominant Parkinson's disease caused by SNCA duplications.
Konno, Takuya ; Ross, Owen A ; Puschmann, Andreas ^LU ; Dickson, Dennis W and Wszolek, Zbigniew K (2016) In Parkinsonism & Related Disorders 22(sep 3). p.1-6
- Contribution to journal › Article
Mark ¹⁸F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers
Smith, Ruben ^LU ; Puschmann, Andreas ^LU ; Schöll, Michael ^LU ; Ohlsson, Tomas ; Van Swieten, John ; Honer, Michael ; Englund, Elisabet ^LU and Hansson, Oskar ^LU (2016) In Brain 139(9). p.2372-2379
- Contribution to journal › Article
Mark Clinical variability of neuroacanthocytosis syndromes : A series of six patients with long follow-up
Dulski, J. ; Sołtan, W. ; Schinwelski, M. ; Rudzińska, M. ; Wójcik-Pȩdziwiatr, M. ; Wictor, L. ^LU ; Schön, F. ; Puschmann, A. ^LU ; Klempíř, J. and Tilley, L. , et al. (2016) In Clinical Neurology and Neurosurgery 147. p.78-83
- Contribution to journal › Article

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