Research Topics
Species | F BrugmanSummaryAffiliation: University Medical Center Utrecht Country: The Netherlands Publications
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Detail Information
Publications
Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 geneF Brugman
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
Neurology 69:702-4. 2007
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromesF Brugman
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
Neurology 71:1500-5. 2008..To investigate the frequency of autosomal recessive paraplegin mutations in patients with sporadic adult-onset upper motor neuron (UMN) syndromes...
A natural history study of late onset spinal muscular atrophy types 3b and 4S Piepers
Dept of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, HP G 02 320, 85500, 3508, GA Utrecht, The Netherlands
J Neurol 255:1400-4. 2008..The natural history of early onset SMA types 1-3a has been studied extensively. Late onset SMA is rare and disease course has not been studied in detail...
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromesS T de Bot
Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
J Neurol 260:869-75. 2013..Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs...
Primary lateral sclerosis as a phenotypic manifestation of familial ALSF Brugman
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, GA Utrecht, The Netherlands
Neurology 64:1778-9. 2005..The authors report two patients with PLS from unrelated SOD1-negative familial ALS families. These observations provide further evidence that PLS can be linked pathophysiologically to ALS...
