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2012Cerebellar Cognitive Affective Syndrome and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of Two Male SibsVerhoeven, W.M.A.; Egger, J.I.M.; Ahmed, A.I.A.; Kremer, H.P.H.; Vermeer, S.; Warrenburg, B.P.C. van de
2012Polg mutation in a patient with recurrent major depression, cardiomyopathy and ataxiaVerhoeven, W.M.A.; Egger, J.I.M.; Kremer, H.P.H.; Pont, B.J.H.B. de; Marcelis, C.L.M.
2011Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?Verhoeven, W.M.A.; Egger, J.I.M.; Kremer, H.P.H.; Pont, B.J.H.B. de; Marcelis, C.L.M.
2011Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?Verhoeven, W.M.A.; Egger, J.I.; Kremer, H.P.H.; Pont, B.J.H.B. de; Marcelis, C.L.M.
2011Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literatureHosson, L.D. de; Warrenburg, B.P.C. van de; Preijers, F.W.M.B.; Blijlevens, N.M.A.; Reijden, B.A. van der; Kremer, H.P.H.; Lefeber, D.J.; Allebes, W.A.; Al-Ali, H.; Niederwieser, D.W.; Schaap, N.P.M.; Schattenberg, A.V.M.B.
2011Autosomal recessive cerebellar ataxias: the current state of affairsVermeer, S.; Warrenburg, B.P.C. van de; Willemsen, M.A.A.P.; Cluitmans, M.; Scheffer, H.; Kremer, B.; Knoers, N.V.A.M.
2011Interobserver variability of laryngeal mucosal premalignant lesions: a histopathological evaluation.Fleskens, S.; Bergshoeff, V.E.; Voogd, A.C.; Velthuysen, M.L. van; Bot, F.J.; Speel, E.J.; Kremer, B.; Takes, R.P.; Slootweg, P.J.
2010Child neurology: hereditary spastic paraplegia in children.Bot, S.T. de; Warrenburg, B.P.C. van de; Kremer, H.P.H.; Willemsen, M.A.A.P.
2010The Cerebrospinal Fluid Amyloid beta(42/40) Ratio in the Differentiation of Alzheimer's Disease from Non-Alzheimer's Dementia.Spies, P.E.; Slats, D.; Sjogren, J.M.C.; Kremer, B.; Verhey, F.R.J.; Olde Rikkert, M.; Verbeek, M.M.
2010Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.Bot, S.T. de; Elzen, R.T. van den; Mensenkamp, A.R.; Schelhaas, H.J.; Willemsen, M.A.A.P.; Knoers, N.V.A.M.; Kremer, H.P.H.; Warrenburg, B.P.C. van de; Scheffer, H.
2010CSF neurofilament proteins levels are elevated in sporadic Creutzfeldt-Jakob disease.Eijk, J.J.J. van; Everbroeck, B. van; Abdo, W.; Kremer, H.P.H.; Verbeek, M.M.
2010Imminent brain death: point of departure for potential heart-beating organ donor recognition.Groot, Y.J. de; Jansen, N.E.; Bakker, J.; Kuiper, M.A.; Aerdts, S.; Maas, A.I.; Wijdicks, E.F.; Leiden, H.A. van; Hoitsma, A.J.; Kremer, H.P.H.; Kompanje, E.J.
20103-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.Wortmann, S.B.; Kremer, H.P.H.; Graham, A.; Willemsen, M.H.; Loupatty, F.J.; Hogg, S.L.; Engelke, U.F.H.; Kluijtmans, L.A.J.; Wanders, R.J.; Illsinger, S.; Wilcken, B.; Cruysberg, J.R.M.; Das, A.M.; Morava, E.; Wevers, R.A.
2010Responsiveness of different rating instruments in spinocerebellar ataxia patients.Schmitz-Hubsch, T.; Fimmers, R.; Rakowicz, M.; Rola, R.; Zdzienicka, E.; Fancellu, R.; Mariotti, C.; Linnemann, C.; Schols, L.; Timmann, D.; Filla, A.; Salvatore, E.; Infante, J.; Giunti, P.; Labrum, R.; Kremer, B.; Warrenburg, B.P.C. van de; Baliko, L.; Melegh, B.; Depondt, C.; Schulz, J.; Montcel, S.T. du; Klockgether, T.
2010Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study.Fonteyn, E.M.; Schmitz-Hubsch, T.; Verstappen, C.C.P.; Baliko, L.; Bloem, B.R.; Boesch, S.; Bunn, L.; Charles, P.; Durr, A.; Filla, A.; Giunti, P.; Globas, C.; Klockgether, T.; Melegh, B.; Pandolfo, M.; Rosa, A. De; Schols, L.; Timmann, D.; Munneke, M.; Kremer, H.P.H.; Warrenburg, B.P.C. van de
2010Self-rated health status in spinocerebellar ataxia--results from a European multicenter study.Schmitz-Hubsch, T.; Coudert, M.; Giunti, P.; Globas, C.; Baliko, L.; Fancellu, R.; Mariotti, C.; Filla, A.; Rakowicz, M.; Charles, P.; Ribai, P.; Szymanski, S.; Infante, J.; Warrenburg, B.P.C. van de; Durr, A.; Timmann, D.; Boesch, S.; Rola, R.; Depondt, C.; Schols, L.; Zdzienicka, E.; Kang, J.S.; Ratzka, S.; Kremer, B.; Schulz, J.B.; Klopstock, T.; Melegh, B.; Montcel, S.T. du; Klockgether, T.
2010Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.Vermeer, S.; Hoischen, A.; Meijer, R.P.; Gilissen, C.F.H.A.; Neveling, K.; Wieskamp, N.A.W.; Brouwer, A.; Koenig, M.; Anheim, M.; Assoum, M.; Drouot, N.; Todorovic, S.; Milic-Rasic, V.; Lochmuller, H.; Stevanin, G.; Goizet, C.; David, A.; Durr, A.; Brice, A.; Kremer, B.; Warrenburg, B.P.C. van de; Schijvenaars, M.M.V.A.P.; Heister, A.; Kwint, M.P.; Arts, P.J.W.; Wijst, J.A.J. van der; Veltman, J.; Kamsteeg, E.J.; Scheffer, H.; Knoers, N.V.A.M.
2009The role of melatonin in sleep disturbances in end-stage Huntington's disease.Alders, J.; Smits, M.; Kremer, H.P.H.; Naarding, P.
2009Hereditaire spastische paraparesen : stand van zaken en leidraad voor genetisch onderzoekBot, S.T. de; Scheffer, H.; Schelhaas, H.J.; Knoers, N.V.A.M.; Willemsen, M.A.A.P.; Warrenburg, B.P.C. van de; Kremer, H.P.H.
2009ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia (vol 9, pg 207, 2008)Vermeer, S.; Meijer, R.P.; Pijl, B.J.; Timmermans, J.; Cruysberg, J.R.M.; Bos, M.M.; Schelhaas, H.J.; Warrenburg, B.P.C. van de; Knoers, N.V.A.M.; Scheffer, H.; Kremer, H.P.H.
2009Apathy is not depression in Huntington's disease.Naarding, P.; Janzing, J.G.E.; Eling, P.; Werf, S.P. van der; Kremer, H.P.H.
2009Apathy Is Not Depression in Huntington's DiseaseNaarding, P.; Janzing, J.G.E.; Eling, P.A.T.M.; Werf, S.P. van der; Kremer, H.P.H.
2009CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation.Bot, S.T. de; Kremer, H.P.H.; Dooijes, D.; Verbeek, M.M.
2009Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.Vermeer, S.; Meijer, R.P.; Hofste, T.G.; Bodmer, D.; Bosgoed, E.A.J.; Cremers, F.P.M.; Kremer, H.P.H.; Slobbe-Knoers, V.V.A.M.; Scheffer, H.
2009Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.Engelke, U.F.H.; Tassini, M.; Hayek, J.; Vries, M. de; Bilos, A.; Vivi, A.; Valensin, G.; Buoni, S.; Zannolli, R.; Brussel, W.; Kremer, H.P.H.; Salomons, G.S.; Veendrick-Meekes, M.J.; Kluijtmans, L.A.J.; Morava, E.; Wevers, R.A.
2009PTPRR protein tyrosine phosphatase isoforms and locomotion of vesicles and mice.Hendriks, W.J.A.J.; Dilaver, G.; Noordman, Y.E.; Kremer, H.P.H.; Fransen, J.A.M.
2009Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy.Verbeek, M.M.; Kremer, H.P.H.; Olde Rikkert, M.G.M.; Domburg, P.H.M.F. van; Skehan, M.E.; Greenberg, S.M.
2009Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.Brugman, F.; Veldink, J.H.; Franssen, H.; Visser, M. de; Jong, J.M. de; Faber, C.G.; Kremer, H.P.H.; Schelhaas, H.J.; Doorn, P.A. van; Verschuuren, J.J.; Bruyn, R.P.M.; Kuks, J.B.M.; Robberecht, W.; Wokke, J.H.J.; Berg, L.H. van den
2009Postural instability in cerebellar ataxia: correlations of knee, arm and trunk movements to center of mass velocity.Kung, U.M.; Horlings, C.G.; Honegger, F.; Kremer, H.P.H.; Bloem, B.R.; Warrenburg, B.P.C. van de; Allum, J.H.J.
2009Clinical spectrum of ataxia-telangiectasia in adulthood.Verhagen, M.M.; Abdo, W.; Willemsen, M.A.A.P.; Hogervorst, F.B.L.; Smeets, D.F.C.M.; Hiel, J.A.P.; Brunt, E.R.; Rijn, M.A. van; Majoor Krakauer, D.; Oldenburg, R.A.; Broeks, A.; Last, J.I.; Veer, L.J. van 't; Tijssen, M.A.; Dubois, A.M.; Kremer, H.P.H.; Weemaes, C.M.R.; Taylor, A.M.; Deuren, M. van
2008CSF hypocretin-1 levels are normal in multiple-system atrophy.Abdo, W.F.; Bloem, B.R.; Kremer, H.P.H.; Lammers, G.J.; Verbeek, M.M.; Overeem, S.
2008No effect of one-year treatment with indomethacin on Alzheimer's disease progression: a randomized controlled trialJong, D. de; Jansen, R.; Hoefnagels, W.; Jellesma-Eggenkamp, M.; Verbeek, M.; Borm, G.; Kremer, H.P.H.
2008CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.Stam, A.H.; Molkot, K.R. van; Kremer, H.P.H.; Gartner, J.; Brown, J.; Leshinsky-Silver, E.; Gilad, R.; Kors, E.E.; Frankhuizen, W.S.; Ginjaar, H.B.; Haan, J.; Frants, R.R.; Ferrari, M.D.; Maagdenberg, A.M. van den; Terwindt, G.M.
2008ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.Vermeer, S.; Meijer, R.P.; Pijl, B.J.; Timmermans, J.; Cruysberg, J.R.M.; Bos, M.M.; Schelhaas, H.J.; Warrenburg, B.P.C. van de; Knoers, N.V.A.M.; Scheffer, H.; Kremer, H.P.H.
2008SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia.Schmitz-Hubsch, T.; Giunti, P.; Stephenson, D.A.; Globas, C.; Baliko, L.; Sacca, F.; Mariotti, C.; Rakowicz, M.; Szymanski, S.; Infante, J.; Warrenburg, B.P.C. van de; Timmann, D.; Fancellu, R.; Rola, R.; Depondt, C.; Schols, L.; Zdzienicka, E.; Kang, J.S.; Dohlinger, S.; Kremer, H.P.H.; Melegh, B.; Filla, A.; Klockgether, T.
2008Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.Schmitz-Hubsch, T.; Coudert, M.; Bauer, P.; Giunti, P.; Globas, C.; Baliko, L.; Filla, A.; Mariotti, C.; Rakowicz, M.; Charles, P.; Ribai, P.; Szymanski, S.; Infante, J.; Warrenburg, B.P.C. van de; Durr, A.; Timmann, D.; Boesch, S.; Fancellu, R.; Rola, R.; Depondt, C.; Schols, L.; Zdienicka, E.; Kang, J.S.; Dohlinger, S.; Kremer, H.P.H.; Stephenson, D.A.; Melegh, B.; Pandolfo, M.; Donato, S. di; Montcel, S.T. du; Klockgether, T.
2007Primair neurologische presentatie van trombotische trombocytopenische purpura.Bot, S.T. de; Raymakers, R.A.P.; Vos, P.E.; Kremer, H.P.H.
2007Potential pitfalls in the analysis of CSF biomarkers in Alzheimer's disease and vascular dementia.Jong, D. de; Jansen, R.W.M.M.; Kremer, H.P.H.; Verbeek, M.M.
2007Current state and future directions of neurochemical biomarkers for Alzheimer's disease.Jong, D. de; Kremer, H.P.H.; Olde Rikkert, M.G.M.; Verbeek, M.M.
2007CSF biomarker profiles do not differentiate between the cerebellar and parkinsonian phenotypes of multiple system atrophy.Abdo, W.; Warrenburg, B.P.C. van de; Kremer, H.P.H.; Bloem, B.R.; Verbeek, M.M.
2007Are neuroradiological or neurophysiological characteristics associated with upper-extremity hypertonia in severe ischaemia in supratentorial stroke?Kuijk, A. van; Hendricks, H.T.; Pasman, J.W.; Kremer, H.P.H.; Geurts, A.C.H.
2007Are clinical characteristics associated with upper-extremity hypertonia in severe ischaemic supratentorial stroke?Kuijk, A. van; Hendricks, H.T.; Pasman, J.W.; Kremer, H.P.H.; Geurts, A.C.H.
2007Riluzole in Huntington's disease: a 3-year, randomized controlled study.Landwehrmeyer, G.B.; Dubois, B.; Yebenes, J.G. de; Kremer, H.P.H.; Gaus, W.; Kraus, P.H.; Przuntek, H.; Dib, M.; Doble, A.; Fischer, W.; Ludolph, A.C.
2007Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening.Vermeer, S.; Kremer, H.P.H.; Leijten, Q.H.; Scheffer, H.; Matthijs, G.; Wevers, R.A.; Knoers, N.V.A.M.; Morava, E.; Lefeber, D.J.
2007CSF neurofilament proteins in the differential diagnosis of dementia.Jong, D. de; Jansen, R.W.M.M.; Pijnenburg, Y.A.; Geel, W.J.A. van; Borm, G.F.; Kremer, H.P.H.; Verbeek, M.M.
2007Diagnostic accuracy of the clapping test in Parkinsonian disorders.Abdo, W.; Norden, A.G.W. van; Laat, K.F. de; Leeuw, F.E. de; Borm, G.F.; Verbeek, M.M.; Kremer, H.P.H.; Bloem, B.R.
2006Een kwestie van komen en gaan: neurologische aandoeningen ten gevolge van ionkanaalmutaties.Kremer, H.P.H.
2006Delayed amnesic syndrome after riluzole autointoxication in Huntington disease.Haaxma, C.A.; Kremer, H.P.H.; Warrenburg, B.P.C. van de
2006Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.Spruijt, L.; Hoefsloot, L.H.; Schaijk, G.H. van; Waardenburg, D. van; Kremer, H.P.H.; Brackel, H.J.; Die-Smulders, C.E.M. de
2006Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.Vlak, M.; Sinke, R.J.; Rabelink, G.M.; Kremer, H.P.H.; Warrenburg, B.P.C. van de

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