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Items: 1 to 50 of 129

1.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. No abstract available.

2.

Mood, anxiety, and perceived quality of life in adults with epilepsy and intellectual disability.

Snoeijen-Schouwenaars FM, van Ool JS, Tan IY, Aldenkamp AP, Schelhaas HJ, Hendriksen JGM.

Acta Neurol Scand. 2019 Jun;139(6):519-525. doi: 10.1111/ane.13085. Epub 2019 Mar 21.

PMID:
30820944
3.

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.

Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS, van Mierlo P, Braakman HMH, Smeets EE, Nicolai J, Schoots J, Teunissen MWA, Rouhl RPW, Tan IY, Yntema HG, Brunner HG, Pfundt R, Stegmann AP, Kamsteeg EJ, Schelhaas HJ, Willemsen MH.

Epilepsia. 2019 Jan;60(1):155-164. doi: 10.1111/epi.14618. Epub 2018 Dec 7.

4.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2019 Mar 7;104(3):562.

5.

Classification of intellectual disability according to domains of adaptive functioning and between-domains discrepancy in adults with epilepsy.

van Ool JS, Snoeijen-Schouwenaars FM, Tan IY, Schelhaas HJ, Aldenkamp AP, Hendriksen JGM.

J Intellect Disabil Res. 2019 Jan;63(1):40-48. doi: 10.1111/jir.12556. Epub 2018 Oct 14.

PMID:
30318652
6.

Psychogenic nonepileptic seizures in adults with epilepsy and intellectual disability: A neglected area.

van Ool JS, Haenen AI, Snoeijen-Schouwenaars FM, Aldenkamp AP, Hendriksen JGM, Schelhaas HJ, Tan IY, Lazeron RHC, Bodde NMG.

Seizure. 2018 Jul;59:67-71. doi: 10.1016/j.seizure.2018.05.002. Epub 2018 May 4.

7.

Phenytoin as a last-resort treatment in SCN8A encephalopathy.

Braakman HM, Verhoeven JS, Erasmus CE, Haaxma CA, Willemsen MH, Schelhaas HJ.

Epilepsia Open. 2017 May 16;2(3):343-344. doi: 10.1002/epi4.12059. eCollection 2017 Sep.

8.

Defining the phenotypic spectrum of SLC6A1 mutations.

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS.

Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8.

9.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM.

Genome Med. 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5.

10.

Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene.

Zwarts MJ, Willemsen MH, Kamsteeg EJ, Schelhaas HJ.

J Neurol Sci. 2017 Jul 15;378:175-176. doi: 10.1016/j.jns.2017.05.024. Epub 2017 May 11. No abstract available.

PMID:
28566159
11.

Vagus Nerve Stimulation in children: A focus on intellectual disability.

Sourbron J, Klinkenberg S, Kessels A, Schelhaas HJ, Lagae L, Majoie M.

Eur J Paediatr Neurol. 2017 May;21(3):427-440. doi: 10.1016/j.ejpn.2017.01.011. Epub 2017 Jan 30. Review.

PMID:
28188025
12.

Accuracy of WISC-III and WAIS-IV short forms in patients with neurological disorders.

van Ool JS, Hurks PPM, Snoeijen-Schouwenaars FM, Tan IY, Schelhaas HJ, Klinkenberg S, Aldenkamp AP, Hendriksen JGM.

Dev Neurorehabil. 2018 Feb;21(2):101-107. doi: 10.1080/17518423.2016.1277799. Epub 2017 Feb 2.

PMID:
28152329
13.

Evaluation of perampanel in patients with intellectual disability and epilepsy.

Snoeijen-Schouwenaars FM, van Ool JS, Tan IY, Schelhaas HJ, Majoie MH.

Epilepsy Behav. 2017 Jan;66:64-67. doi: 10.1016/j.yebeh.2016.10.013. Epub 2016 Dec 27.

PMID:
28038388
14.

Tau Rather than TDP-43 Proteins are Potential Cerebrospinal Fluid Biomarkers for Frontotemporal Lobar Degeneration Subtypes: A Pilot Study.

Kuiperij HB, Versleijen AA, Beenes M, Verwey NA, Benussi L, Paterlini A, Binetti G, Teunissen CE, Raaphorst J, Schelhaas HJ, Küsters B, Pijnenburg YA, Ghidoni R, Verbeek MM.

J Alzheimers Dis. 2017;55(2):585-595.

PMID:
27662293
15.

A systematic review of neuropsychiatric comorbidities in patients with both epilepsy and intellectual disability.

van Ool JS, Snoeijen-Schouwenaars FM, Schelhaas HJ, Tan IY, Aldenkamp AP, Hendriksen JGM.

Epilepsy Behav. 2016 Jul;60:130-137. doi: 10.1016/j.yebeh.2016.04.018. Epub 2016 May 18. Review.

PMID:
27206231
16.

A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.

Aerts MB, Weterman MA, Quadri M, Schelhaas HJ, Bloem BR, Esselink RA, Baas F, Bonifati V, van de Warrenburg BP.

Ann Clin Transl Neurol. 2015 Dec 22;3(2):146-9. doi: 10.1002/acn3.281. eCollection 2016 Feb.

17.

Botulinum toxin-A injections vs radiotherapy for drooling in ALS.

Weikamp JG, Schinagl DA, Verstappen CC, Schelhaas HJ, de Swart BJ, Kalf JG.

Acta Neurol Scand. 2016 Sep;134(3):224-31. doi: 10.1111/ane.12559. Epub 2016 Jan 25.

PMID:
26803950
18.

Letter: Evaluating the care of a multidisciplinary clinic by using the White Paper "Listening for a change: Medical and social needs of people with intellectual disability who have epilepsy".

van der Linden PF, Tan IY, van Erp MG, van Blarikom W, Schelhaas HJ, Majoie MH.

Epilepsia. 2015 Sep;56(9):1472-3. doi: 10.1111/epi.13092. No abstract available.

19.

Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis.

Huisman MH, Seelen M, van Doormaal PT, de Jong SW, de Vries JH, van der Kooi AJ, de Visser M, Schelhaas HJ, van den Berg LH, Veldink JH.

JAMA Neurol. 2015 Oct;72(10):1155-62. doi: 10.1001/jamaneurol.2015.1584.

PMID:
26280944
20.

Carbamazepine and oxcarbazepine in adult patients with Dravet syndrome: Friend or foe?

Snoeijen-Schouwenaars FM, Veendrick MJ, van Mierlo P, van Erp G, de Louw AJ, Kleine BU, Schelhaas HJ, Tan IY.

Seizure. 2015 Jul;29:114-8. doi: 10.1016/j.seizure.2015.03.010. Epub 2015 Apr 13.

21.

Autism and behavior in adult patients with Dravet syndrome (DS).

Berkvens JJ, Veugen I, Veendrick-Meekes MJ, Snoeijen-Schouwenaars FM, Schelhaas HJ, Willemsen MH, Tan IY, Aldenkamp AP.

Epilepsy Behav. 2015 Jun;47:11-6. doi: 10.1016/j.yebeh.2015.04.057. Epub 2015 May 23.

PMID:
26005841
22.

Letter: Recruitment of patients with both epilepsy and intellectual disability.

van Mierlo P, Snoeijen-Schouwenaars FM, Veendrick MJ, Tan IY, Willemsen MH, Schelhaas HJ, Kleine BU.

Epilepsia. 2015 Apr;56(4):662-3. doi: 10.1111/epi.12948. No abstract available.

23.

Euthanasia and physician-assisted suicide in amyotrophic lateral sclerosis: a prospective study.

Maessen M, Veldink JH, Onwuteaka-Philipsen BD, Hendricks HT, Schelhaas HJ, Grupstra HF, van der Wal G, van den Berg LH.

J Neurol. 2014 Oct;261(10):1894-901. doi: 10.1007/s00415-014-7424-6. Epub 2014 Jul 15.

PMID:
25022937
24.

Serum angiogenin levels are elevated in ALS, but not Parkinson's disease.

van Es MA, Veldink JH, Schelhaas HJ, Bloem BR, Sodaar P, van Nuenen BF, Verbeek M, van de Warrenburg BP, van den Berg LH.

J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1439-40. doi: 10.1136/jnnp-2013-307168. Epub 2014 May 29. No abstract available.

PMID:
24876190
25.

First patho-anatomical investigation of the brain of a SCA19 patient.

Seidel K, Küsters B, den Dunnen WF, Bouzrou M, Hageman G, Korf HW, Schelhaas HJ, Verbeek D, Rüb U.

Neuropathol Appl Neurobiol. 2014 Aug;40(5):640-4. doi: 10.1111/nan.12128. No abstract available.

PMID:
24612451
26.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.

Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.

27.

Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositis.

Pluk H, van Hoeve BJ, van Dooren SH, Stammen-Vogelzangs J, van der Heijden A, Schelhaas HJ, Verbeek MM, Badrising UA, Arnardottir S, Gheorghe K, Lundberg IE, Boelens WC, van Engelen BG, Pruijn GJ.

Ann Neurol. 2013 Mar;73(3):397-407. doi: 10.1002/ana.23822. Epub 2013 Mar 4.

PMID:
23460448
28.

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

de Bot ST, Burggraaff RC, Herkert JC, Schelhaas HJ, Post B, Diekstra A, van Vliet RO, van der Knaap MS, Kamsteeg EJ, Scheffer H, van de Warrenburg BP, Verschuuren-Bemelmans CC, Kremer HP.

Eur J Hum Genet. 2013 Nov;21(11):1312-5. doi: 10.1038/ejhg.2013.27. Epub 2013 Feb 27.

29.

Cumulative effect of 5 daily sessions of θ burst stimulation on corticospinal excitability in amyotrophic lateral sclerosis.

Munneke MA, Rongen JJ, Overeem S, Schelhaas HJ, Zwarts MJ, Stegeman DF.

Muscle Nerve. 2013 Nov;48(5):733-8. doi: 10.1002/mus.23818. Epub 2013 Aug 30.

PMID:
23424061
30.

Lifetime physical activity and the risk of amyotrophic lateral sclerosis.

Huisman MH, Seelen M, de Jong SW, Dorresteijn KR, van Doormaal PT, van der Kooi AJ, de Visser M, Schelhaas HJ, van den Berg LH, Veldink JH.

J Neurol Neurosurg Psychiatry. 2013 Sep;84(9):976-81. doi: 10.1136/jnnp-2012-304724. Epub 2013 Feb 16.

PMID:
23418211
31.

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS.

Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700.

PMID:
23280838
32.

Genetic overlap between apparently sporadic motor neuron diseases.

van Blitterswijk M, Vlam L, van Es MA, van der Pol WL, Hennekam EA, Dooijes D, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

PLoS One. 2012;7(11):e48983. doi: 10.1371/journal.pone.0048983. Epub 2012 Nov 14.

33.

Parental age and the risk of amyotrophic lateral sclerosis.

de Jong SW, Huisman MH, Hennekam EA, Sutedja NA, van der Kooi AJ, de Visser M, Schelhaas HJ, Fischer K, Veldink JH, van den Berg LH.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):224-7. doi: 10.3109/21678421.2012.739176. Epub 2012 Nov 14.

PMID:
23151261
34.

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis.

van Rheenen W, Diekstra FP, van Doormaal PT, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es MA, van Vught PW, van Damme P, Smith BN, Waibel S, Schelhaas HJ, van der Kooi AJ, de Visser M, Weber M, Robberecht W, Hardiman O, Shaw PJ, Shaw CE, Morrison KE, Al-Chalabi A, Andersen PM, Ludolph AC, Veldink JH, van den Berg LH.

Neurobiol Aging. 2013 May;34(5):1517.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.020. Epub 2012 Oct 11.

PMID:
23063643
35.

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

de Bot ST, Schelhaas HJ, Kamsteeg EJ, van de Warrenburg BP.

Brain. 2012 Dec;135(Pt 12):e223; author reply e224. doi: 10.1093/brain/aws201. Epub 2012 Sep 18. No abstract available.

PMID:
22991237
36.

The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS.

Raaphorst J, Beeldman E, Schmand B, Berkhout J, Linssen WH, van den Berg LH, Pijnenburg YA, Grupstra HF, Weikamp JG, Schelhaas HJ, Papma JM, van Swieten JC, de Visser M, de Haan RJ.

Neurology. 2012 Sep 25;79(13):1377-83. Epub 2012 Sep 12.

PMID:
22972650
37.

Is the Frontal Assessment Battery reliable in ALS patients?

Raaphorst J, Beeldman E, Jaeger B, Schmand B, van den Berg LH, Weikamp JG, Schelhaas HJ, de Visser M, de Haan RJ.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Jan;14(1):73-4. doi: 10.3109/17482968.2012.712974. Epub 2012 Aug 13.

PMID:
22889176
38.

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.

van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 Dec;33(12):2950.e1-4. doi: 10.1016/j.neurobiolaging.2012.07.004. Epub 2012 Aug 9.

39.

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis.

Verstraete E, Kuiperij HB, van Blitterswijk MM, Veldink JH, Schelhaas HJ, van den Berg LH, Verbeek MM.

Amyotroph Lateral Scler. 2012 Sep;13(5):446-51. doi: 10.3109/17482968.2012.703208. Epub 2012 Aug 8.

PMID:
22873561
40.

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.

van Rheenen W, van Blitterswijk M, Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH, van den Berg LH.

Neurology. 2012 Aug 28;79(9):878-82. doi: 10.1212/WNL.0b013e3182661d14. Epub 2012 Jul 25.

PMID:
22843265
41.

Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study.

de Jong SW, Huisman MH, Sutedja NA, van der Kooi AJ, de Visser M, Schelhaas HJ, Fischer K, Veldink JH, van den Berg LH.

Am J Epidemiol. 2012 Aug 1;176(3):233-9. doi: 10.1093/aje/kws015. Epub 2012 Jul 11.

PMID:
22791740
42.

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE.

Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13.

43.

Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy.

Vlam L, Schelhaas HJ, van Blitterswijk M, van Vught PW, de Visser M, van der Kooi AJ, van der Pol WL, van den Berg LH.

Arch Neurol. 2012 Jun;69(6):790-1. doi: 10.1001/archneurol.2012.148. No abstract available.

PMID:
22689196
44.

UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.

van Doormaal PT, van Rheenen W, van Blitterswijk M, Schellevis RD, Schelhaas HJ, de Visser M, van der Kooi AJ, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 Sep;33(9):2233.e7-2233.e8. doi: 10.1016/j.neurobiolaging.2012.02.032. Epub 2012 Jun 5.

PMID:
22676852
45.

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH.

Hum Mol Genet. 2012 Sep 1;21(17):3776-84. doi: 10.1093/hmg/dds199. Epub 2012 May 29.

PMID:
22645277
46.

Prognostic value of decreased tongue strength on survival time in patients with amyotrophic lateral sclerosis.

Weikamp JG, Schelhaas HJ, Hendriks JC, de Swart BJ, Geurts AC.

J Neurol. 2012 Nov;259(11):2360-5. doi: 10.1007/s00415-012-6503-9. Epub 2012 Apr 24.

47.

Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial.

Verstraete E, Veldink JH, Huisman MH, Draak T, Uijtendaal EV, van der Kooi AJ, Schelhaas HJ, de Visser M, van der Tweel I, van den Berg LH.

J Neurol Neurosurg Psychiatry. 2012 May;83(5):557-64. doi: 10.1136/jnnp-2011-302021. Epub 2012 Feb 29.

PMID:
22378918
48.

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 HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P.

Hum Mol Genet. 2012 Jun 1;21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17.

49.

Intramuscular fibrous tissue determines muscle echo intensity in amyotrophic lateral sclerosis.

Arts IM, Schelhaas HJ, Verrijp KC, Zwarts MJ, Overeem S, van der Laak JA, Lammens MM, Pillen S.

Muscle Nerve. 2012 Mar;45(3):449-50. doi: 10.1002/mus.22254. No abstract available.

PMID:
22334185
50.

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.

van Blitterswijk M, Blokhuis A, van Es MA, van Vught PW, Rowicka PA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 Aug;33(8):1845.e1-3. doi: 10.1016/j.neurobiolaging.2012.01.007. Epub 2012 Feb 11.

PMID:
22330174

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