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2019
Mark North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia
Lambrechts, Roald A. ; Polet, Sjoukje S. ; Hernandez-Pichardo, Alejandra ; van Ninhuys, Lisa ; Gorter, Jenke A. ; Grzeschik, Nicola A. ; de Koning-Tijssen, Marina A.J. ; de Koning, Tom J. ^LU and Sibon, Ody C.M. (2019) In Neuroscience 423. p.1-11
- Contribution to journal › Article
Mark Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force
van der Veen, Sterre ; Zutt, Rodi ; Klein, Christine ; Marras, Connie ; Berkovic, Samuel F. ; Caviness, John N. ; Shibasaki, Hiroshi ; de Koning, Tom J. ^LU and Tijssen, Marina A.J. (2019) In Movement Disorders 34(11). p.1602-1613
- Contribution to journal › Scientific review
Mark A clinical diagnostic algorithm for early onset cerebellar ataxia
Brandsma, R. ; Verschuuren-Bemelmans, C. C. ; Amrom, D. ; Barisic, N. ; Baxter, P. ; Bertini, E. ; Blumkin, L. ; Brankovic-Sreckovic, V. ; Brouwer, O. F. and Bürk, K. , et al. (2019) In European Journal of Paediatric Neurology 23(5). p.692-706
- Contribution to journal › Article
Mark Identification of human D lactate dehydrogenase deficiency
Monroe, Glen R. ; van Eerde, Albertien M. ; Tessadori, Federico ; Duran, Karen J. ; Savelberg, Sanne M.C. ; van Alfen, Johanna C. ; Terhal, Paulien A. ; van der Crabben, Saskia N. ; Lichtenbelt, Klaske D. and Fuchs, Sabine A. , et al. (2019) In Nature Communications 10(1).
- Contribution to journal › Article
Mark Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
Kuiper, Anouk ; Grünewald, Stephanie ; Murphy, Elaine ; Coenen, Maraike A. ; Eggink, Hendriekje ; Zutt, Rodi ; Rubio-Gozalbo, Maria E. ; Bosch, Annet M. ; Williams, Monique and Derks, Terry G.J. , et al. (2019) In Journal of Inherited Metabolic Disease 42(3). p.451-458
- Contribution to journal › Article
Mark Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity
van Egmond, Martje E. ; Contarino, Maria Fiorella ; Lugtenberg, Coen H.A. ; Peall, Kathryn J. ; Brouwer, Oebele F. ; Fung, Victor S.C. ; Roze, Emmanuel ; Stewart, Roy E. ; Willemsen, Michel A. and Wolf, Nicole I. , et al. (2019) In Movement Disorders 34(3). p.317-320
- Contribution to journal › Article
Mark Recommendations for patient screening in ultra-rare inherited metabolic diseases : What have we learned from Niemann-Pick disease type C?
Sobrido, María Jesús ; Bauer, Peter ; De Koning, Tom ^LU ; Klopstock, Thomas ; Nadjar, Yann ; Patterson, Marc C. ; Synofzik, Matthis and Hendriksz, Chris J. (2019) In Orphanet Journal of Rare Diseases 14(1).
- Contribution to journal › Scientific review
2018
Mark Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism
Koens, Lisette H. ; Tijssen, Marina A.J. ; Lange, Fiete ; Wolffenbuttel, Bruce H.R. ; Rufa, Alessandra ; Zee, David S. and de Koning, Tom J. ^LU (2018) In Movement Disorders 33(12). p.1844-1856
- Contribution to journal › Scientific review
Mark Progressive myoclonus ataxia : Time for a new definition?
van der Veen, Sterre ; Zutt, Rodi ; Elting, Jan Willem J. ; Becker, Charlotte E. ^LU ; de Koning, Tom J. ^LU and Tijssen, Marina A.J. (2018) In Movement Disorders 33(8). p.1281-1286
- Contribution to journal › Article
Mark Reversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystonia
Oterdoom, D. L.Marinus ; Van Egmond, Martje E. ; Ascencao, Luisa Cassini ; Van Dijk, J. Marc C. ; Saryyeva, Assel ; Beudel, Martijn ; Runge, Joachim ; de Koning, Tom J. ^LU ; Abdallat, Mahmoud and Eggink, Hendriekje , et al. (2018) In Tremor and Other Hyperkinetic Movements 8. p.1-4
- Contribution to journal › Article

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