Browsing by Author "Schelhaas, H.J."

Now showing items 1-50 of 114

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig, K.L.; Lauerer, R.J.; Bahr, J.C.; Souza, I.A.; Myers, C.T.; Uysal, B.; Schwarz, N.; Gandini, M.A.; Huang, S.; Keren, B.; Mignot, C.; Afenjar, A.; Villemeur, T. Billette de; Heron, D.; Nava, C.; Valence, S.; Buratti, J.; Fagerberg, C.R.; Soerensen, K.P.; Kibaek, M.; Kamsteeg, E.J. ; Koolen, D.A. ; Gunning, B.; Schelhaas, H.J. ; Kruer, M.C.; Fox, J.; Bakhtiari, S.; Jarrar, R.; Padilla-Lopez, S.; Lindstrom, K.; Jin, S.C.; Zeng, X.; Bilguvar, K.; Papavasileiou, A.; Xin, Q.; Zhu, C.; Boysen, K.; Vairo, F.; Lanpher, B.C.; Klee, E.W.; Tillema, J.M.; Payne, E.T.; Cousin, M.A.; Kruisselbrink, T.M.; Wick, M.J.; Baker, J.; Haan, E.; Smith, N.; Corbett, M.A.; MacLennan, A.H.; Gecz, J.; Biskup, S.; Goldmann, E.; Rodan, L.H.; Kichula, E.; Segal, E.; Jackson, K.E.; Asamoah, A.; Dimmock, D.; McCarrier, J.; Botto, L.D.; Filloux, F.; Tvrdik, T.; Cascino, G.D.; Klingerman, S.; Neumann, C.; Wang, R.; Jacobsen, J.C.; Nolan, M.A.; Snell, R.G.; Lehnert, K.; Sadleir, L.G.; Anderlid, B.M.; Kvarnung, M.; Guerrini, R.; Friez, M.J.; Lyons, M.J.; Leonhard, J.; Kringlen, G.; Casas, K.; Achkar, C.M. El; Smith, L.A.; Rotenberg, A.; Poduri, A.; Sanchis-Juan, A.; Carss, K.J.; Rankin, J.; Zeman, A.; Raymond, F.L.; Blyth, M.; Kerr, B.; Ruiz, K.; Urquhart, J.; Hughes, I.; Banka, S.; Hedrich, U.B.S.; Scheffer, I.E.; Helbig, I.; Zamponi, G.W.; Lerche, H., et al. et al. sine al.
2018, Article / Letter to editor (American Journal of Human Genetics, vol. 103, iss. 5, (2018), pp. 666-678)
Phenytoin as a last-resort treatment in SCN8A encephalopathy.
Braakman, H.M.; Erasmus, C.E. ; Haaxma, C.A. ; Willemsen, M.H. ; Schelhaas, H.J.
2017, Article / Letter to editor (Epilepsia Open, vol. 2, iss. 3, (2017), pp. 343-344, article 12059)
Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene
Zwarts, M.J.; Willemsen, M.H. ; Kamsteeg, E.J. ; Schelhaas, H.J.
2017, Article / Letter to editor (Journal of the Neurological Sciences, vol. 378, (2017), pp. 175-176)
First patho-anatomical investigation of the brain of a SCA19 patient
Seidel, K.; Kusters, B. ; Dunnen, W.F. den; Bouzrou, M.; Hageman, G.; Korf, H.W.; Schelhaas, H.J. ; Verbeek, D.; Rub, U.
2014, Article / Letter to editor (Neuropathology and Applied Neurobiology, vol. 40, iss. 5, (2014), pp. 640-644)
Serum angiogenin levels are elevated in ALS, but not Parkinson's disease
Es, M.A. van; Veldink, J.H.; Schelhaas, H.J. ; Bloem, B.R. ; Sodaar, P.; Nuenen, B.F.L. van ; Verbeek, M.M. ; Warrenburg, B.P.C. van de ; Berg, L.H. van den
2014, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 85, iss. 12, (2014), pp. 1439-1440)
Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositis
Pluk, H. ; Hoeve, B.J.A. van ; Dooren, S.H. van; Stammen-Vogelzangs, J. ; Heijden, A. van der; Schelhaas, H.J. ; Verbeek, M.M. ; Badrising, U.A.; Arnardottir, S.; Gheorghe, K.; Lundberg, I.E.; Boelens, W.C. ; Engelen, B.G.M. van ; Pruijn, Ger et al. sine al.
2013, Article / Letter to editor (Annals of Neurology, vol. 73, iss. 3, (2013), pp. 397-407)
Mutations in BICD2, which encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Neveling, K. ; Martinez-Carrera, L.; Hölker, I.; Heister, A. ; Verrips, A. ; Hosseini-Barkooie, S.M.; Gilissen, C.F.H.A. ; Vermeer, S. ; Pennings, M.C.P.; Meijer, R.; Riele, M.G.E. te ; Frijns, C.J.; Suchowersky, O.; MacLaren, L.; Rudnik-Schöneborn, S.; Sinke, R.J. ; Zerres, K.; Lowry, R.B.; Lemmink, H.H. ; Garbes, L.; Veltman, J.A. ; Schelhaas, H.J. ; Scheffer, H. ; Wirth, B. et al. sine al.
2013, Article / Letter to editor (American Journal of Human Genetics, vol. 92, (2013), pp. 946-954)
Is the Frontal Assessment Battery reliable in ALS patients?
Raaphorst, J.; Beeldman, E.; Jaeger, B.; Schmand, B.A.; Berg, L.H. van den ; Weikamp, J.G.; Schelhaas, H.J. ; Visser, M. de; Haan, R.J. de
2013, Article / Letter to editor (Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, vol. 14, iss. 1, (2013), pp. 73-74)
Cumulative effect of 5 daily sessions of theta burst stimulation on corticospinal excitability in amyotrophic lateral sclerosis
Munneke, M. ; Rongen, J.J.; Overeem, S. ; Schelhaas, H.J. ; Zwarts, M.J. ; Stegeman, D.F.
2013, Article / Letter to editor (Muscle and Nerve, vol. 48, iss. 5, (2013), pp. 733-738)
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients
Bot, S.T. de ; Burggraaff, R.C.; Herkert, J.C.; Schelhaas, H.J. ; Post, B. ; Diekstra, A.; Vliet, R.O. van; Knaap, M.S. van der; Kamsteeg, E.J. ; Scheffer, H. ; Warrenburg, B.P.C. van de ; Verschuuren-Bemelmans, C.C.; Kremer, H.P.H. et al. sine al.
2013, Article / Letter to editor (European Journal of Human Genetics, vol. 21, iss. 11, (2013), pp. 1312-1315)
Prognostic value of decreased tongue strength on survival time in patients with amyotrophic lateral sclerosis
Weikamp, J.G.; Schelhaas, H.J. ; Hendriks, J.C.M. ; Swart, B.J.M. de ; Geurts, A.C.H.
2012, Article / Letter to editor (Journal of Neurology, vol. 259, iss. 11, (2012), pp. 2360-2365)
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
Weterman, M.A.J. ; Sorrentino, V.; Kasher, P.R.; Jakobs, M.E.; Engelen, B.G.M. van ; Fluiter, K.; Wissel, M.B. de; Sizarov, A.; Nurnberg, G.; Nurnberg, P.; Zelcer, N.; Schelhaas, H.J. ; Baas, F. et al. sine al.
2012, Article / Letter to editor (Human Molecular Genetics, vol. 21, iss. 2, (2012), pp. 358-370)
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
Duarri, A.; Jezierska, J.; Fokkens, M.; Meijer, M.; Schelhaas, H.J. ; Dunnen, W. den; van Dijk, F.; Verschuuren-Bemelmans, C.; Hageman, G.; Van de Vlies, P.; Kusters, B. ; Warrenburg, B.P.C. van de ; Kremer, B. ; Wijmenga, C.; Sinke, R.J. ; Swertz, M.A.; Kampinga, H.H.; Boddeke, E.; Verbeek, D.S. et al. sine al.
2012, Article / Letter to editor (Annals of Neurology, vol. 72, iss. 6, (2012), pp. 870-880)
Mutations in KCND3 gene cause spinocerebellar ataxia type 19
Duarri, A.; Jezierska, J.; Fokkens, M.; Meijer, M.; Schelhaas, H.J. ; Dunnen, W. den; van Dijk, F.; Verschuuren-Bemelmans, C.; Hageman, G.; Van de Vlies, P.; Kusters, B. ; Warrenburg, B.P.C. van de ; Kremer, B. ; Wijmenga, C.; Swertz, M.A.; Kampinga, H.H.; Boddeke, E.; Verbeek, D.S. et al. sine al.
2012, Article / Letter to editor (Febs Journal, vol. 279, (2012), pp. 299-300)
Motor unit number index (MUNIX) versus motor unit number estimation (MUNE): a direct comparison in a longitudinal study of ALS patients.
Boekestein, W.A.; Schelhaas, H.J. ; Putten, M.J.A.M. van; Stegeman, D.F. ; Zwarts, M.J. ; Dijk, J.P. van
2012, Article / Letter to editor (Clinical Neurophysiology, vol. 123, iss. 8, (2012), pp. 1644-1649)
Fasciculations and their F-response revisited: high-density surface EMG in ALS and benign fasciculations.
Kleine, B.U. ; Boekestein, W.A.; Arts, I.M.P. ; Zwarts, M.J. ; Schelhaas, H.J. ; Stegeman, D.F.
2012, Article / Letter to editor (Clinical Neurophysiology, vol. 123, iss. 2, (2012), pp. 399-405)
Ultrasonographic detection of fasciculations markedly increases diagnostic sensitivity of ALS.
Boekestein, W.A.; Schelhaas, H.J. ; Dijk, J.P. van ; Kleine, B.U. ; Zwarts, M.J.
2012, Article / Letter to editor (Neurology, vol. 78, iss. 5, (2012), pp. 370; author reply 370-1)
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.
Rheenen, W. van; Blitterswijk, M. van; Huisman, M.H.; Vlam, L.; Doormaal, P.T. van; Seelen, M.; Medic, J.; Dooijes, D.; Visser, M. de; Kooi, A.J. van der; Raaphorst, J.; Schelhaas, H.J. ; Pol, W.L. van der; Veldink, J.H.; Berg, L.H. van den et al. sine al.
2012, Article / Letter to editor (Neurology, vol. 79, iss. 9, (2012), pp. 878-882)
Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy.
Vlam, L.; Schelhaas, H.J. ; Blitterswijk, M. van; Vught, P.W. van; Visser, M. de; Kooi, A.J. van der; Pol, W.L. van der; Berg, L.H. van den
2012, Article / Letter to editor (Archives of Neurology, vol. 69, iss. 6, (2012), pp. 790-791)
Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients.
Blitterswijk, M. van; Vught, P.W. van; Es, M.A. van; Schelhaas, H.J. ; Kooi, A.J. van der; Visser, M. de; Veldink, J.H.; Berg, L.H. van den
2012, Article / Letter to editor (Neurobiology of Aging, vol. 33, iss. 5, (2012), pp. 1016.e1-7)
Smoking, Alcohol Consumption, and the Risk of Amyotrophic Lateral Sclerosis: A Population-based Study.
Jong, S.W. de; Huisman, M.H.; Sutedja, N.A.; Kooi, A.J. van der; Visser, M. de; Schelhaas, H.J. ; Fischer, K.; Veldink, J.H.; Berg, L.H. van den
2012, Article / Letter to editor (American Journal of Epidemiology, vol. 176, iss. 3, (2012), pp. 233-239)
Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis.
Verstraete, E.; Veldink, J.H.; Hendrikse, J.; Schelhaas, H.J. ; Heuvel, M.P. van den; Berg, L.H. van den
2012, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 83, iss. 4, (2012), pp. 383-388)
The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS
Raaphorst, J.; Beeldman, E.; Schmand, B.A.; Berkhout, J.; Linssen, W.H.J.P.; Berg, L.H. van den ; Pijnenburg, Y.A.L. ; Grupstra, H.F.; Weikamp, J.G.; Schelhaas, H.J. ; Papma, J.M.; van Swieten, J.C.; Visser, M. de; Haan, R.J. de et al. sine al.
2012, Article / Letter to editor (Neurology, vol. 79, iss. 13, (2012), pp. 1377-1383)
UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.
Doormaal, P.T. van; Rheenen, W. van; Blitterswijk, M. van; Schellevis, R.D.; Schelhaas, H.J. ; Visser, M. de; Kooi, A.J. van der; Veldink, J.H.; Berg, L.H. van den
2012, Article / Letter to editor (Neurobiology of Aging, vol. 33, iss. 9, (2012), pp. 2233.e7-2233.e8)
UNC13A is a modifier of survival in amyotrophic lateral sclerosis.
Diekstra, F.P.; Vught, P.W. van; Rheenen, W. van; Koppers, M.; Pasterkamp, R.J.; Es, M.A. van; Schelhaas, H.J. ; Visser, M. de; Robberecht, W.; Damme, P. van; Andersen, P.M.; Berg, L.H. van den ; Veldink, J.H. et al. sine al.
2012, Article / Letter to editor (Neurobiology of Aging, vol. 33, iss. 3, (2012), pp. 630.e3-8)
VCP mutations in familial and sporadic amyotrophic lateral sclerosis.
Koppers, M.; Blitterswijk, M.M. van; Vlam, L.; Rowicka, P.A.; Vught, P.W. van; Groen, E.J.; Spliet, W.G.; Engelen-Lee, J. van; Schelhaas, H.J. ; Visser, M. de; Kooi, A.J. van der; Pol, W.L. van der; Pasterkamp, R.J.; Veldink, J.H.; Berg, L.H. van den et al. sine al.
2012, Article / Letter to editor (Neurobiology of Aging, vol. 33, iss. 4, (2012), pp. 837.e7-13)
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
Blitterswijk, M. van; Es, M.A. van; Hennekam, E.A.; Dooijes, D.; Rheenen, W. van; Medic, J.; Bourque, P.R.; Schelhaas, H.J. ; Kooi, A.J. van der; Visser, M. de; Bakker, P.I. de; Veldink, J.H.; Berg, L.H. van den et al. sine al.
2012, Article / Letter to editor (Human Molecular Genetics, vol. 21, iss. 17, (2012), pp. 3776-3784)
Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial.
Verstraete, E.; Veldink, J.H.; Huisman, M.H.; Draak, T.; Uijtendaal, E.V.; Kooi, A.J. van der; Schelhaas, H.J. ; Visser, M. de; Tweel, I. van de; Berg, L.H. van den
2012, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 83, iss. 5, (2012), pp. 557-564)
TDP-43 plasma levels are higher in amyotrophic lateral sclerosis.
Verstraete, E.; Kuiperij, H.B. ; Blitterswijk, M.M. van; Veldink, J.H.; Schelhaas, H.J. ; Berg, L.H. van den ; Verbeek, M.M.
2012, Article / Letter to editor (Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, vol. 13, iss. 5, (2012), pp. 446-451)
Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.
Blitterswijk, M. van; Blokhuis, A.; Es, M.A. van; Vught, P.W. van; Rowicka, P.A.; Schelhaas, H.J. ; Kooi, A.J. van der; Visser, M. de; Veldink, J.H.; Berg, L.H. van den
2012, Article / Letter to editor (Neurobiology of Aging, vol. 33, iss. 8, (2012), pp. 1845.e1-3)
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient
van Blitterswijk, M.; Es, M.A. van; Koppers, M.; van Rheenen, W.; Medic, J.; Schelhaas, H.J. ; van der Kooi, A.J.; Visser, M. de; Veldink, J.H.; Berg, L.H. van den
2012, Article / Letter to editor (Neurobiology of Aging, vol. 33, iss. 12, (2012), pp. 2950 e1-4)
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
Herdewyn, S.; Zhao, H.; Moisse, M.; Race, V.; Matthijs, G.; Reumers, J.; Kusters, B. ; Schelhaas, H.J. ; Berg, L.H. van den ; Goris, A.; Robberecht, W.; Lambrechts, D.; Damme, P. van et al. sine al.
2012, Article / Letter to editor (Human Molecular Genetics, vol. 21, iss. 11, (2012), pp. 2412-2419)
Hereditary spastic paraplegia caused by a mutation in the VCP gene
Bot, S.T. de ; Schelhaas, H.J. ; Kamsteeg, E.J. ; Warrenburg, B.P.C. van de
2012, Article / Letter to editor (Brain, vol. 135, iss. Pt 12, (2012), pp. e223)
Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
van Blitterswijk, M.; Vlam, L.; Es, M.A. van; van der Pol, W.L.; Hennekam, E.A.; Dooijes, D.; Schelhaas, H.J. ; van der Kooi, A.J.; Visser, M. de; Veldink, J.H.; Berg, L.H. van den et al. sine al.
2012, Article / Letter to editor (PLoS One, vol. 7, iss. 11, (2012), article e48983)
Muscle ultrasonography: a diagnostic tool for amyotrophic lateral sclerosis.
Arts, I.M.P. ; Overeem, S. ; Pillen, S. ; Kleine, B.U. ; Boekestein, W.A.; Zwarts, M.J. ; Schelhaas, H.J.
2012, Article / Letter to editor (Clinical Neurophysiology, vol. 123, iss. 8, (2012), pp. 1662-1667)
Intramuscular fibrous tissue determines muscle echo intensity in amyotrophic lateral sclerosis.
Arts, I.M.P. ; Schelhaas, H.J. ; Verrijp, K.C.; Zwarts, M.J. ; Overeem, S. ; Laak, J.A.W.M. van der ; Lammens, M.M.Y. ; Pillen, S.
2012, Article / Letter to editor (Muscle and Nerve, vol. 45, iss. 3, (2012), pp. 449-450)
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Simon-Sanchez, J.; Dopper, E.G.; Cohn-Hokke, P.E.; Hukema, R.K.; Nicolaou, N.; Seelaar, H.; Graaf, J.R.A. de; Koning, I. de; Schoor, N.M. van; Deeg, D.J.G.; Smits, M. ; Raaphorst, J.; Berg, L.H. van den ; Schelhaas, H.J. ; Die-Smulders, C.E.M. de; Majoor-Krakauer, D.; Rozemuller, A.J.; Willemsen, R.; Pijnenburg, Y.A.L. ; Heutink, P.; Swieten, J.C. van et al. sine al.
2012, Article / Letter to editor (Brain, vol. 135, iss. Pt 3, (2012), pp. 723-735)
Diagnostic yield of muscle fibre conduction velocity in myopathies
Blijham, P.J. ; Engelen, B.G.M. van ; Drost, G. ; Stegeman, D.F. ; Schelhaas, H.J. ; Zwarts, M.J.
2011, Article / Letter to editor (Journal of the Neurological Sciences, vol. 309, iss. 1-2, (2011), pp. 40-44)
Muscle changes in amyotrophic lateral sclerosis: a longitudinal ultrasonography study
Arts, I.M.P. ; Overeem, S. ; Pillen, S. ; Schelhaas, H.J. ; Zwarts, M.J.
2011, Article / Letter to editor (Clinical Neurophysiology, vol. 122, iss. 3, (2011), pp. 623-628)
Muscle ultrasonography to predict survival in amyotrophic lateral sclerosis
Arts, I.M.P. ; Overeem, S. ; Pillen, S. ; Schelhaas, H.J. ; Zwarts, M.J.
2011, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 82, iss. 5, (2011), pp. 552-554)
Transcranial direct current stimulation does not modulate motor cortex excitability in patients with amyotrophic lateral sclerosis
Munneke, M. ; Stegeman, D.F. ; Hengeveld, Y.A.; Rongen, J.J.; Schelhaas, H.J. ; Zwarts, M.J.
2011, Article / Letter to editor (Muscle and Nerve, vol. 44, iss. 1, (2011), pp. 109-114)
Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology
Huisman, M.H.; Jong, S.W. de; Doormaal, P.T. van; Weinreich, S.S.; Schelhaas, H.J. ; Kooi, A.J. van der; Visser, M. de; Veldink, J.H.; Berg, L.H. van den
2011, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 82, iss. 10, (2011), pp. 1165-1170)
Family history of neurodegenerative and vascular diseases in ALS: a population-based study
Huisman, M.H.; Jong, S.W. de; Verwijs, M.C.; Schelhaas, H.J. ; Kooi, A.J. van der; Visser, M. de; Veldink, J.H.; Berg, L.H. van den
2011, Article / Letter to editor (Neurology, vol. 77, iss. 14, (2011), pp. 1363-1369)
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
Es, M.A. van; Schelhaas, H.J. ; Vught, P.W. van; Ticozzi, N.; Andersen, P.M.; Groen, E.J.; Schulte, C.; Blauw, H.M.; Koppers, M.; Diekstra, F.P.; Fumoto, K.; Leclerc, A.L.; Keagle, P.; Bloem, B.R. ; Scheffer, H. ; Nuenen, B.F.L. van ; Blitterswijk, M. van; Rheenen, W. van; Wills, A.M.; Lowe, P.P.; Hu, G.F.; Yu, W.; Kishikawa, H.; Wu, D.; Folkerth, R.D.; Mariani, C.; Goldwurm, S.; Pezzoli, G.; Damme, P. van; Lemmens, R.; Dahlberg, C.; Birve, A.; Fernandez-Santiago, R.; Waibel, S.; Klein, C.; Weber, M.; Kooi, A.J. van der; Visser, M. de; Verbaan, D.; Hilten, J.J. van; Heutink, P.; Hennekam, E.A.; Cuppen, E.; Berg, D.; Brown, R.H. Jr.; Silani, V.; Gasser, T.; Ludolph, A.C.; Robberecht, W.; Ophoff, R.A.; Veldink, J.H.; Pasterkamp, R.J.; Bakker, P.I. de; Landers, J.E.; Warrenburg, B.P.C. van de ; Berg, L.H. van den et al. sine al.
2011, Article / Letter to editor (Annals of Neurology, vol. 70, iss. 6, (2011), pp. 964-973)
TDP-43 plasma levels do not differentiate sporadic inclusion body myositis from other inflammatory myopathies.
Kuiperij, H.B. ; Abdo, W.F. ; Engelen, B.G.M. van ; Schelhaas, H.J. ; Verbeek, M.M.
2010, Article / Letter to editor (Acta Neuropathologica, vol. 120, iss. 6, (2010), pp. 825-826)
Microglial upregulation of progranulin as a marker of motor neuron degeneration.
Philips, T.; Muynck, L. De; Thu, H.N.; Weynants, B.; Vanacker, P.; Dhondt, J.; Sleegers, K.; Schelhaas, H.J. ; Verbeek, M.M. ; Vandenberghe, R.; Sciot, R.; Broeckhoven, C. van; Lambrechts, D.; Leuven, F. Van; Bosch, L.; Robberecht, W.; Damme, P. van et al. sine al.
2010, Article / Letter to editor (Journal of Neuropathology and Experimental Neurology, vol. 69, iss. 12, (2010), pp. 1191-1200)
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Auer-Grumbach, M.; Olschewski, A.; Papic, L.; Kremer, J.M.J. ; McEntagart, M.E.; Uhrig, S.; Fischer, C.; Frohlich, E.; Balint, Z.; Tang, B.; Strohmaier, H.; Lochmuller, H.; Schlotter-Weigel, B.; Senderek, J.; Krebs, A.; Dick, K.J.; Petty, R.; Longman, C.; Anderson, N.E.; Padberg, G.W.A.M. ; Schelhaas, H.J. ; Ravenswaaij-Arts, C.M.A. van ; Pieber, T.R.; Crosby, A.H.; Guelly, C. et al. sine al.
2010, Article / Letter to editor (Nature Genetics, vol. 42, iss. 2, (2010), pp. 160-164)
Hereditary 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.
2010, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 81, iss. 10, (2010), pp. 1073-1078)
Monitoring disease progression using high-density motor unit number estimation in amyotrophic lateral sclerosis.
Dijk, J.P. van ; Schelhaas, H.J. ; Schaik, I.N. van; Janssen, H.M.; Stegeman, D.F. ; Zwarts, M.J.
2010, Article / Letter to editor (Muscle and Nerve, vol. 42, iss. 2, (2010), pp. 239-244)
Sensitivity and specificity of the 'Awaji' electrodiagnostic criteria for amyotrophic lateral sclerosis: retrospective comparison of the Awaji and revised El Escorial criteria for ALS.
Boekestein, W.A.; Kleine, B.U. ; Hageman, G.; Schelhaas, H.J. ; Zwarts, M.J.
2010, Article / Letter to editor (Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, vol. 11, iss. 6, (2010), pp. 497-501)

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