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Items: 36

1.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S.

Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1.

PMID:
30932294
2.

Natural History of Vanishing White Matter.

Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group, van der Knaap MS.

Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.

3.

Influence of guidelines on management of paediatric mild traumatic brain injury: CT-assessment and admission policy.

Lenstra JJ, Pikstra ARA, Fock JM, Metting Z, van der Naalt J.

Eur J Paediatr Neurol. 2017 Nov;21(6):816-822. doi: 10.1016/j.ejpn.2017.07.019. Epub 2017 Aug 3.

PMID:
28811137
4.

The juvenile head trauma syndrome - Deterioration after mild TBI: Diagnosis and clinical presentation at the Emergency Department.

Pikstra ARA, Metting Z, Fock JM, van der Naalt J.

Eur J Paediatr Neurol. 2017 Mar;21(2):344-349. doi: 10.1016/j.ejpn.2016.09.005. Epub 2016 Sep 23.

PMID:
27707655
5.

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST.

Neurology. 2016 Oct 4;87(14):1442-1448. Epub 2016 Sep 2.

6.

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.

Gerkes EH, Fock JM, den Dunnen WF, van Belzen MJ, van der Lans CA, Hoving EW, Fakkert IE, Smith MJ, Evans DG, Olderode-Berends MJ.

Neurogenetics. 2016 Apr;17(2):83-9. doi: 10.1007/s10048-015-0472-y. Epub 2016 Jan 23. Review.

7.

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.

Kevelam SH, Klouwer FC, Fock JM, Salomons GS, Bugiani M, van der Knaap MS.

Neuropediatrics. 2016 Jan;47(1):64-7. doi: 10.1055/s-0035-1568987. Epub 2015 Nov 30.

PMID:
26619324
8.

Paediatric palliative care: recommendations for treatment of symptoms in the Netherlands.

Knops RR, Kremer LC, Verhagen AA; Dutch Paediatric Palliative Care Guideline Group for Symptoms.

BMC Palliat Care. 2015 Nov 5;14:57. doi: 10.1186/s12904-015-0054-7.

9.

Mutations in RARS cause hypomyelination.

Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q.

Ann Neurol. 2014 Jul;76(1):134-9. doi: 10.1002/ana.24167. Epub 2014 May 16.

PMID:
24777941
10.

Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands.

van den Bergen JC, Ginjaar HB, van Essen AJ, Pangalila R, de Groot IJ, Wijkstra PJ, Zijnen MP, Cobben NA, Kampelmacher MJ, Wokke BH, de Coo IF, Fock JM, Horemans AM, van Tol M, Vroom E, Rijlaarsdam ME, Straathof CS, Niks EH, Verschuuren JJ.

J Neuromuscul Dis. 2014;1(1):99-109.

PMID:
27858664
11.

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR.

J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778.

PMID:
22581968
12.

Benign neonatal sleep myoclonus: a case with a spinal generator?

Fokke C, Fock JM, Brouwer OF, Elting JW.

Neurology. 2011 Sep 27;77(13):1308-9. doi: 10.1212/WNL.0b013e31823020ad. Epub 2011 Sep 14. No abstract available.

PMID:
21917778
13.

The lumbosacral angle does not reflect progressive tethered cord syndrome in children with spinal dysraphism.

Cornips EM, Razenberg FG, van Rhijn LW, Soudant DL, van Raak EP, Weber JW, Robben SG, Fock JM, Catsman-Berrevoets CE, Vles JS.

Childs Nerv Syst. 2010 Dec;26(12):1757-64. doi: 10.1007/s00381-010-1281-0. Epub 2010 Sep 21.

14.

Mild hypothermia for refractory focal status epilepticus in an infant with hemimegalencephaly.

Elting JW, Naalt Jv, Fock JM.

Eur J Paediatr Neurol. 2010 Sep;14(5):452-5. doi: 10.1016/j.ejpn.2009.12.001. Epub 2010 Jan 8.

PMID:
20060761
15.

A Dutch guideline for the treatment of scoliosis in neuromuscular disorders.

Mullender M, Blom N, De Kleuver M, Fock J, Hitters W, Horemans A, Kalkman C, Pruijs J, Timmer R, Titarsolej P, Van Haasteren N, Jager MV, Van Vught A, Van Royen B.

Scoliosis. 2008 Sep 26;3:14. doi: 10.1186/1748-7161-3-14.

16.

[18 years experience with mechanical ventilation in patients with Duchenne muscular dystrophy].

Meinesz AF, Bladder G, Goorhuis JF, Fock JM, Staal-Schreinemachers AL, Zijlstra JG, Wijkstra PJ.

Ned Tijdschr Geneeskd. 2007 Aug 18;151(33):1830-3. Dutch.

PMID:
17874640
17.

Effect of seat surface inclination on postural control during reaching in preterm children with cerebral palsy.

Hadders-Algra M, van der Heide JC, Fock JM, Stremmelaar E, van Eykern LA, Otten B.

Phys Ther. 2007 Jul;87(7):861-71. Epub 2007 May 1.

PMID:
17472949
19.

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.

Rump P, Lemmink HH, Verschuuren-Bemelmans CC, Grootscholten PM, Fock JM, Hayflick SJ, Westaway SK, Vos YJ, van Essen AJ.

Neurogenetics. 2005 Dec;6(4):201-7. Epub 2005 Oct 21.

20.

Kinematic characteristics of postural control during reaching in preterm children with cerebral palsy.

van der Heide JC, Fock JM, Otten B, Stremmelaar E, Hadders-Algra M.

Pediatr Res. 2005 Sep;58(3):586-93.

PMID:
16148078
21.

Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients.

Beenakker EA, Maurits NM, Fock JM, Brouwer OF, van der Hoeven JH.

Eur J Paediatr Neurol. 2005;9(6):387-93. Epub 2005 Aug 15.

PMID:
16102988
22.

[Three infants with constipation and muscular weakness: infantile botulism].

Thomasse Y, Arends JP, van der Heide PA, Smit LM, van Weerden TW, Fock JM.

Ned Tijdschr Geneeskd. 2005 Apr 9;149(15):826-31. Dutch.

PMID:
15850274
23.

Kinematic characteristics of reaching movements in preterm children with cerebral palsy.

van der Heide JC, Fock JM, Otten B, Stremmelaar E, Hadders-Algra M.

Pediatr Res. 2005 Jun;57(6):883-9. Epub 2005 Mar 17.

PMID:
15774828
24.

Intermittent prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial.

Beenakker EA, Fock JM, Van Tol MJ, Maurits NM, Koopman HM, Brouwer OF, Van der Hoeven JH.

Arch Neurol. 2005 Jan;62(1):128-32.

PMID:
15642859
25.

Muscle ultrasound in children: normal values and application to neuromuscular disorders.

Maurits NM, Beenakker EA, van Schaik DE, Fock JM, van der Hoeven JH.

Ultrasound Med Biol. 2004 Aug;30(8):1017-27.

PMID:
15474744
26.

Prognostic significance of amplitude-integrated EEG during the first 72 hours after birth in severely asphyxiated neonates.

ter Horst HJ, Sommer C, Bergman KA, Fock JM, van Weerden TW, Bos AF.

Pediatr Res. 2004 Jun;55(6):1026-33.

PMID:
15155870
27.

Postural control during reaching in preterm children with cerebral palsy.

van der Heide JC, Begeer C, Fock JM, Otten B, Stremmelaar E, van Eykern LA, Hadders-Algra M.

Dev Med Child Neurol. 2004 Apr;46(4):253-66.

28.

Quantitative assessment of calf circumference in Duchenne muscular dystrophy patients.

Beenakker EA, de Vries J, Fock JM, van Tol M, Brouwer OF, Maurits NM, van der Hoeven JH.

Neuromuscul Disord. 2002 Oct;12(7-8):639-42.

PMID:
12207931
29.

Predictive value of clinical evaluation in the follow-up of children with a brain tumor.

de Graaf N, Hew JM, Fock JM, Kamps WA, de Graaf SS.

Med Pediatr Oncol. 2002 Apr;38(4):254-7.

PMID:
11920789
30.

The prognostic value of serial EEG recordings following acute neonatal asphyxia in full-term infants.

Zeinstra E, Fock JM, Begeer JH, van Weerden TW, Maurits NM, Zweens MJ.

Eur J Paediatr Neurol. 2001;5(4):155-60.

PMID:
11587379
31.

Reference values of maximum isometric muscle force obtained in 270 children aged 4-16 years by hand-held dynamometry.

Beenakker EA, van der Hoeven JH, Fock JM, Maurits NM.

Neuromuscul Disord. 2001 Jul;11(5):441-6.

PMID:
11404114
32.

Recurrent astrocytoma in a child: a report of cytogenetics and TP53 gene mutation screening.

Dam A, Fock JM, Hayes VM, Molenaar WM, van den Berg E.

Neuro Oncol. 2000 Jul;2(3):184-9. doi: 10.1093/neuonc/2.3.184.

33.

Mild axonal neuropathy of children during treatment for acute lymphoblastic leukaemia.

Reinders-Messelink HA, Van Weerden TW, Fock JM, Gidding CE, Vingerhoets HM, Schoemaker MM, Göeken LN, Bökkerink JP, Kamps WA.

Eur J Paediatr Neurol. 2000;4(5):225-33.

PMID:
11030069
34.

[Active euthanasia in newborn children with spina bifida?].

Staal-Schreinemachers AL, Begeer JH, Fock JM, Vos-Niël JM.

Ned Tijdschr Geneeskd. 1996 Apr 6;140(14):800-1. Dutch. No abstract available.

PMID:
8668271
35.
36.

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