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Fons Gabreëls

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Marleen H van der Linden; Daniel S Marigold; Fons J M Gabreëls; Jacques Duysens
Muscle reflexes and synergies triggered by an unexpected support surface height during walking.
Willeke A van den Beld; Gitty A C van der Sanden; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
Validity and reproducibility of the Jamar dynamometer in children aged 4-11 years.
Willeke A van den Beld; Gitty A C van der Sanden; Ton Feuth; Antoon J M Janssen; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
A new motor performance test in a prospective study on children with suspected myopathy.

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2007: Marleen H van der Linden; Daniel S Marigold; Fons J M Gabreëls; Jacques Duysens
Muscle reflexes and synergies triggered by an unexpected support surface height during walking.
Journal of neurophysiology 2007;97(5):3639-50.
2006: Willeke A van den Beld; Gitty A C van der Sanden; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
Validity and reproducibility of the Jamar dynamometer in children aged 4-11 years.
Disability and rehabilitation 2006;28(21):1303-9.
2006: Willeke A van den Beld; Gitty A C van der Sanden; Ton Feuth; Antoon J M Janssen; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
A new motor performance test in a prospective study on children with suspected myopathy.
Developmental medicine and child neurology 2006;48(9):739-43.
2006: J A P Hiel; B G M van Engelen; Corry M R Weemaes; Annegien Broeks; Aad Verrips; Henk ter Laak; H M Vingerhoets; Lambert P van den Heuvel; Martin Lammens; Fons J M Gabreëls; J I Last; A M R Taylor
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
Neurology 2006;67(2):346-9.
2006: Willeke A van den Beld; Gitty A C van der Sanden; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
Validity and reproducibility of hand-held dynamometry in children aged 4-11 years.
Journal of rehabilitation medicine : official journal of the UEMS European Board of Physical and Rehabilitation Medicine 2006;38(1):57-64.
2006: Willeke A van den Beld; Gitty A C van der Sanden; Rob C A Sengers; André L M Verbeek; Fons J M Gabreëls
Validity and reproducibility of a new diagnostic motor performance test in children with suspected myopathy.
Developmental medicine and child neurology 2006;48(1):20-7.
2005: Nens van Alfen; A A W M Gabreëls-Festen; Henk ter Laak; W F M Arts; Fons J M Gabreëls; B G M van Engelen
Histology of hereditary neuralgic amyotrophy.
Journal of neurology, neurosurgery, and psychiatry 2005;76(3):445-7.
2004: Peter H Jongerius; Jan J Rotteveel; Jacques van Limbeek; Fons J M Gabreëls; Karen van Hulst; Frank J A van den Hoogen
Botulinum toxin effect on salivary flow rate in children with cerebral palsy.
Neurology 2004;63(8):1371-5.
2004: Peter H Jongerius; Frank J A van den Hoogen; Jacques van Limbeek; Fons J M Gabreëls; Karen van Hulst; Jan J Rotteveel
Effect of botulinum toxin in the treatment of drooling: a controlled clinical trial.
Pediatrics 2004;114(3):620-7.
2004: Michèl A A P Willemsen; Marinette van der Graaf; Marjo S van der Knaap; Arend Heerschap; Peter H M F Van Domburg; Fons J M Gabreëls; Jan J Rotteveel
MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.
AJNR. American journal of neuroradiology 2004;25(4):649-57.
2003: Peter H Jongerius; P van Tiel; Jacques van Limbeek; Fons J M Gabreëls; Jan J Rotteveel
A systematic review for evidence of efficacy of anticholinergic drugs to treat drooling.
Archives of disease in childhood 2003;88(10):911-4.
2003: Martin Lammens; J A P Hiel; Fons J M Gabreëls; B G M van Engelen; Lambert P van den Heuvel; Corry M R Weemaes
Nijmegen breakage syndrome: a neuropathological study.
Neuropediatrics 2003;34(4):189-93.
2002: R A C van de Wetering; A A W M Gabreëls-Festen; Vincent Timmerman; G M Padberg; Fons J M Gabreëls; Edwin C M Mariman
Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.
Neuromuscular disorders : NMD 2002;12(7-8):651-5.
2002: Niels Geerdink; Jan J Rotteveel; Martin Lammens; Erik A Sistermans; G T Heikens; Fons J M Gabreëls; Reinier A Mullaart; Ben C J Hamel
MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
Neuropediatrics 2002;33(1):33-6.
2002: H Jacobus Gilhuis; Hans J ten Donkelaar; Ronald B Tanke; Dick M Vingerhoets; Machiel J Zwarts; Aad Verrips; Fons J M Gabreëls
Nonmuscular involvement in merosin-negative congenital muscular dystrophy.
Pediatric neurology 2002;26(1):30-6.
2001: B G M van Engelen; J A P Hiel; Fons J M Gabreëls; Lambert P van den Heuvel; Dik C van Gent; Corry M R Weemaes
Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.
Human immunology 2001;62(12):1324-7.
2001: Peter H Jongerius; Jan J Rotteveel; F van den Hoogen; Frank B M Joosten; Karen van Hulst; Fons J M Gabreëls
Botulinum toxin A: a new option for treatment of drooling in children with cerebral palsy. Presentation of a case series.
European journal of pediatrics 2001;160(8):509-12.
2001: Michèl A A P Willemsen; Lodewijk IJlst; PM Steijlen; Jan J Rotteveel; Jan G N de Jong; Peter H M F Van Domburg; Ertan Mayatepek; Fons J M Gabreëls; Ronald J A Wanders
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Brain : a journal of neurology 2001;124(Pt 7):1426-37.
2001: J A P Hiel; Corry M R Weemaes; B G M van Engelen; Dominique Smeets; M J L Ligtenberg; Ineke van der Burgt; Lambert P van den Heuvel; Karen M Cerosaletti; Fons J M Gabreëls; Patrick Concannon
Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.
Journal of medical genetics 2001;38(6):E19.
2001: Aad Verrips; B G M van Engelen; Henk ter Laak; P Wesseling; J de Jong; Fons J M Gabreëls
Scheie syndrome presenting as myopathy.
Neuropediatrics 2001;32(2):93-6.
2001: Hans J ten Donkelaar; Martin Lammens; P Wesseling; Henk O M Thijssen; Willy O Renier; Fons J M Gabreëls
[Development and developmental disorders of the human brain. III. Neuronal migration disorders of the cerebrum].
Nederlands tijdschrift voor geneeskunde 2001;145(10):466-74.
2001: Hans J ten Donkelaar; P Wesseling; Martin Lammens; Henk O M Thijssen; Willy O Renier; Fons J M Gabreëls
[Development and developmental disorders of the human brain. II. Development of the cerebral cortex and major tract systems].
Nederlands tijdschrift voor geneeskunde 2001;145(9):401-10.
2000: JF de Rijk-van Andel; Fons J M Gabreëls; B Geurtz; Gerry C H Steenbergen-Spanjers; Lambert P van den Heuvel; Jan A M Smeitink; Ron A Wevers
L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency.
Neurology 2000;55(12):1926-8.
2000: Nens van Alfen; Janneke Schuuring; B G M van Engelen; Jan J Rotteveel; Fons J M Gabreëls
Idiopathic neuralgic amyotrophy in children. A distinct phenotype compared to the adult form.
Neuropediatrics 2000;31(6):328-32.
2000: M M Harms; Jan J Rotteveel; N C Kar; Fons J M Gabreëls
Recurrent alternating facial paralysis and malignant hypertension.
Neuropediatrics 2000;31(6):318-20.
2000: Frederik Barkhof; Aad Verrips; P Wesseling; Marjo S van der Knaap; B G M van Engelen; Fons J M Gabreëls; A Keyser; Ron A Wevers; Jakob Valk
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.
Radiology 2000;217(3):869-76.
2000: Aad Verrips; B G M van Engelen; Henk ter Laak; A A W M Gabreëls-Festen; A Janssen; Machiel J Zwarts; R A Wevers; Fons J M Gabreëls
Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients.
Neuromuscular disorders : NMD 2000;10(6):407-14.
2000: P M McNeill; Aad Verrips; Reinier A Mullaart; Fons J M Gabreëls; A W Gabreëls-Festen; J G Knibbeler
Chronic inflammatory demyelinating polyneuropathy as a complication of cat scratch disease.
Journal of neurology, neurosurgery, and psychiatry 2000;68(6):797.
2000: M G Bartholomeus; Fons J M Gabreëls; Henk ter Laak; B G van Engelen
Congenital fibre type disproportion a time-locked diagnosis: a clinical and morphological follow-up study.
Clinical neurology and neurosurgery 2000;102(2):97-101.
2000: BM Van Wezel; B G M van Engelen; Fons J M Gabreëls; A A W M Gabreëls-Festen; Jacques Duysens
Abeta fibers mediate cutaneous reflexes during human walking.
Journal of neurophysiology 2000;83(5):2980-6.
2000: Aad Verrips; Lies Hoefsloot; G C H Steenbergen; J P Theelen; Ron A Wevers; Fons J M Gabreëls; B G M van Engelen; Lambert P van den Heuvel
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Brain : a journal of neurology 2000;123 ( Pt 5)():908-19.
2000: Aad Verrips; B G M van Engelen; Ron A Wevers; B M van Geel; J R Cruysberg; Lambert P van den Heuvel; A Keyser; Fons J M Gabreëls
Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.
Archives of neurology 2000;57(4):520-4.
2000: Nens van Alfen; B G M van Engelen; J W Reinders; Hannie Kremer; Fons J M Gabreëls
The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types?
Brain : a journal of neurology 2000;123 ( Pt 4)():718-23.
1999: Michèl A A P Willemsen; Jan J Rotteveel; Peter H M F Van Domburg; Fons J M Gabreëls; Ertan Mayatepek; Rob C A Sengers
Preterm birth in Sjögren-Larsson syndrome.
Neuropediatrics 1999;30(6):325-7.
1999: E Strijks; swibertus rudolfus poort; Willy O Renier; Fons J M Gabreëls; R M Bertina
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy.
Neuropediatrics 1999;30(6):320-4.
1999: Aad Verrips; G J Nijeholt; Frederik Barkhof; B G M van Engelen; P Wesseling; JA Luyten; Ron A Wevers; J Stam; J H J Wokke; Lambert P van den Heuvel; A Keyser; Fons J M Gabreëls
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
Brain : a journal of neurology 1999;122 ( Pt 8)():1589-95.
1999: Ron A Wevers; JF de Rijk-van Andel; Christa Bräutigam; B Geurtz; Lambert P van den Heuvel; Gerry C H Steenbergen-Spanjers; Jan A M Smeitink; Georg F Hoffmann; Fons J M Gabreëls
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).
Journal of inherited metabolic disease 1999;22(4):364-73.
1999: A A W M Gabreëls-Festen; Sylvia van Beersum; L Eshuis; E LeGuern; Fons J M Gabreëls; B G M van Engelen; Edwin C M Mariman
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
Journal of neurology, neurosurgery, and psychiatry 1999;66(5):569-74.
1999: Peter H M F Van Domburg; Michèl A A P Willemsen; Jan J Rotteveel; Jan G N de Jong; Henk O M Thijssen; Arend Heerschap; J R M Cruysberg; Ronald J A Wanders; Fons J M Gabreëls; PM Steijlen
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients.
Neurology 1999;52(7):1345-52.
1999: Sandra G Heil; N M J van der Put; Frans J M Trijbels; Fons J M Gabreëls; Henk J Blom
Molecular genetic analysis of human folate receptors in neural tube defects.
European journal of human genetics : EJHG 1999;7(3):393-6.
1999: R A van de Wetering; A A W M Gabreëls-Festen; H Kremer; V M Kalscheuer; Fons J M Gabreëls; Edwin C M Mariman
Regulation and expression of the murine PMP22 gene.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(4):419-22.
1999: Aad Verrips; Ron A Wevers; B G M van Engelen; A Keyser; B G Wolthers; Frederik Barkhof; A Stalenhoef; R De Graaf; F Janssen-Zijlstra; A Van Spreeken; Fons J M Gabreëls
Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis.
Metabolism: clinical and experimental 1999;48(2):233-8.
1999: M Estela Rubio-Gozalbo; Jan A M Smeitink; Wim Ruitenbeek; Henk ter Laak; Reinier A Mullaart; M Schuelke; E C Mariman; Rob C A Sengers; Fons J M Gabreëls
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency.
Neurology 1999;52(2):383-6.
1998: P P Lenssen; A A W M Gabreëls-Festen; L J Valentijn; PJ Jongen; Sylvia van Beersum; B G M van Engelen; P J van Wensen; PA Bolhuis; Fons J M Gabreëls; Edwin C M Mariman
Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.
Brain : a journal of neurology 1998;121 ( Pt 8)():1451-8.
1998: J A P Hiel; Aad Verrips; A Keyser; Tim Jansen; P Wesseling; R de Coo; Fons J M Gabreëls
Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes.
The Netherlands journal of medicine 1998;53(1):27-31.
1998: L van der Laan; Henk ter Laak; A A W M Gabreëls-Festen; Fons J M Gabreëls; R Jan A Goris
Complex regional pain syndrome type I (RSD): pathology of skeletal muscle and peripheral nerve.
Neurology 1998;51(1):20-5.
1998: M A Willemsen; P E Jira; Fons J M Gabreëls; A T van der Ploeg; Jan A M Smeitink
[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].
Nederlands tijdschrift voor geneeskunde 1998;142(24):1388-92.
1998: N M J van der Put; Fons J M Gabreëls; E M Stevens; Jan A M Smeitink; Frans J M Trijbels; Tom K A B Eskes; Lambert P van den Heuvel; Henk J Blom
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
American journal of human genetics 1998;62(5):1044-51.
1998: Henk ter Laak; Q H Leyten; Fons J M Gabreëls; H Kuppen; W O Renier; Rob C A Sengers
Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: an immunohistochemical study.
Clinical neurology and neurosurgery 1998;100(1):5-10.
1998: G P Gerrits; S Kamphuis; Leo A H Monnens; J M F Trijbels; Cornelis H Schröder; A Koster; Fons J M Gabreëls
Cerebrospinal fluid levels of amino acids in infants and young children with chronic renal failure.
Neuropediatrics 1998;29(1):35-9.
1998: M J van Belzen; J A P Hiel; Corry M R Weemaes; Fons J M Gabreëls; B G M van Engelen; Dominique Smeets; Lambert P van den Heuvel
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
Human genetics 1998;102(2):187-91.
1998: B G M van Engelen; AA Benders; R A Wevers; Fons J M Gabreëls; W O Renier; J H Veerkamp
Intravenous immunoglobulin preparation increases myoplasmic calcium concentration by activating the dihydropyridine-ryanodine receptor complex.
Journal of the neurological sciences 1998;156(1):35-40.
1997: M A Willemsen; A M van Oort; Henk ter Laak; Rob C A Sengers; Fons J M Gabreëls
Multicore myopathy with restrictive cardiomyopathy.
Acta paediatrica (Oslo, Norway : 1992) 1997;86(11):1271-4.
1997: Aad Verrips; Gerry C H Steenbergen-Spanjers; JA Luyten; Ron A Wevers; J H J Wokke; Fons J M Gabreëls; B G Wolthers; Lambert P van den Heuvel
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.
Human genetics 1997;100(2):284-6.
1997: J Mourmans; Udo Wendel; HA Bentlage; J M F Trijbels; Jan A M Smeitink; I F M de Coo; Fons J M Gabreëls; Rob C A Sengers; Wim Ruitenbeek
Clinical heterogeneity in respiratory chain complex III deficiency in childhood.
Journal of the neurological sciences 1997;149(1):111-7.
1997: WM Kersemaekers; N Roeleveld; Gerhard A Zielhuis; Fons J M Gabreëls
Neurodevelopment in offspring of hairdressers.
Developmental medicine and child neurology 1997;39(6):358-62.
1997: Aad Verrips; J A P Hiel; Fons J M Gabreëls; P Wesseling; Jan J Rotteveel
The Aircardi-Goutières syndrome: variable clinical expression in two siblings.
Pediatric neurology 1997;16(4):323-5.
1997: BM Blatter; Rianne van Gageldonk-Lafeber; P W Peters; N Roeleveld; André L M Verbeek; Fons J M Gabreëls
Heterogeneity of spina bifida.
Teratology 1997;55(4):224-30.
1997: Marjo S van der Knaap; Peter G Barth; Fons J M Gabreëls; E Franzoni; J H Begeer; H Stroink; J J Rotteveel; Jakob Valk
A new leukoencephalopathy with vanishing white matter.
Neurology 1997;48(4):845-55.
1997: N Roeleveld; Gerhard A Zielhuis; Fons J M Gabreëls
The prevalence of mental retardation: a critical review of recent literature.
Developmental medicine and child neurology 1997;39(2):125-32.
1996: Aad Verrips; Gerry C H Steenbergen-Spanjers; JA Luyten; L P van den Heuvel; A Keyser; Fons J M Gabreëls; Ron A Wevers
Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.
Human genetics 1996;98(6):735-7.
1996: Q H Leyten; Fons J M Gabreëls; Willy O Renier; Henk ter Laak
Congenital muscular dystrophy: a review of the literature.
Clinical neurology and neurosurgery 1996;98(4):267-80.
1996: A A W M Gabreëls-Festen; Jessica E Hoogendijk; P H Meijerink; Fons J M Gabreëls; PA Bolhuis; Sylvia van Beersum; T Kulkens; Eva Nelis; F G I Jennekens; Marianne De Visser; B G M van Engelen; Christine Van Broeckhoven; Edwin C M Mariman
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
Neurology 1996;47(3):761-5.
1996: P H van Domburg; A A W M Gabreëls-Festen; Fons J M Gabreëls; R de Coo; Wim Ruitenbeek; Pieter Wesseling; Henk ter Laak
Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.
Brain : a journal of neurology 1996;119 ( Pt 3)():997-1010.
1996: Q H Leyten; Willy O Renier; Fons J M Gabreëls; H G Brunner; Henk ter Laak; Reinier A Mullaart
Association of congenital muscular dystrophy with hypoplasia of the lateral abdominal wall musculature and hypoplasia of the external genitalia.
Neuropediatrics 1996;27(2):108-10.
1996: BM Blatter; N Roeleveld; Gerhard A Zielhuis; R A Mullaart; Fons J M Gabreëls
Spina bifida and parental occupation.
Epidemiology (Cambridge, Mass.) 1996;7(2):188-93.
1996: Jan J Rotteveel; Reinier A Mullaart; Fons J M Gabreëls; J J van Overbeeke
[Active euthanasia in newborn infants with spina bifida?].
Nederlands tijdschrift voor geneeskunde 1996;140(6):323-4.
1996: BM Blatter; N Roeleveld; Gerhard A Zielhuis; Fons J M Gabreëls; André L M Verbeek
Maternal occupational exposure during pregnancy and the risk of spina bifida.
Occupational and environmental medicine 1996;53(2):80-6.
1995: Karel J B Lamers; B G M van Engelen; Fons J M Gabreëls; Otto R Hommes; G F Borm; Ron A Wevers
Cerebrospinal neuron-specific enolase, S-100 and myelin basic protein in neurological disorders.
Acta neurologica Scandinavica 1995;92(3):247-51.
1995: Ronald H M A Bartels; E G Gonera; J A van der Spek; H O Thijssen; Reinier A Mullaart; Fons J M Gabreëls
Intramedullary spinal cord abscess. A case report.
Spine 1995;20(10):1199-204.
1995: Ron A Wevers; Udo F H Engelke; U Wendel; Jan G N de Jong; Fons J M Gabreëls; Arend Heerschap
Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.
Clinical chemistry 1995;41(5):744-51.
1995: A T Hageman; Fons J M Gabreëls; J G de Jong; A A W M Gabreëls-Festen; C J van den Berg; B A van Oost; Ron A Wevers
Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
Archives of neurology 1995;52(4):408-13.
1995: Q H Leyten; Fons J M Gabreëls; Willy O Renier; B G M van Engelen; Henk ter Laak; R C Sengers; H O Thijssen
White matter abnormalities in congenital muscular dystrophy.
Journal of the neurological sciences 1995;129(2):162-9.
1995: Wim Ruitenbeek; P J Poels; D M Turnbull; B Garavaglia; R A Chalmers; R W Taylor; Fons J M Gabreëls
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
Journal of neurology, neurosurgery, and psychiatry 1995;58(2):209-14.
1995: Q H Leyten; P G Barth; Fons J M Gabreëls; K Renkawek; Willy O Renier; A A W M Gabreëls-Festen; Henk ter Laak; M G Smits
Congenital muscular dystrophy and severe central nervous system atrophy in two siblings.
Acta neuropathologica 1995;90(6):650-6.
1995: A A W M Gabreëls-Festen; PA Bolhuis; Jessica E Hoogendijk; Linda J Valentijn; E J Eshuis; Fons J M Gabreëls
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.
Acta neuropathologica 1995;90(6):645-9.
1994: M B Ruijs; Antoine Keyser; Fons J M Gabreëls
Clinical neurological trauma parameters as predictors for neuropsychological recovery and long-term outcome in paediatric closed head injury: a review of the literature.
Clinical neurology and neurosurgery 1994;96(4):273-83.
1994: Edwin C M Mariman; A A W M Gabreëls-Festen; Sylvia van Beersum; Linda J Valentijn; F Baas; PA Bolhuis; P J Jongen; Hans-Hilger Ropers; Fons J M Gabreëls
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.
Annals of neurology 1994;36(4):650-5.
1994: C J van de Vlasakker; Fons J M Gabreëls; H C Wijburg; R A Wevers
Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.
Clinical neurology and neurosurgery 1994;96(2):119-23.
1994: H L Busard; J P Span; K Renkawek; Willy O Renier; Fons J M Gabreëls; J L Slooff; M A Van 't Hof
Polyglucosan bodies in brain tissue: a systematic study.
Clinical neuropathology 1994;13(2):60-3.
1994: Edwin C M Mariman; A A W M Gabreëls-Festen; Sylvia van Beersum; P J Jongen; E van de Looij; F Baas; PA Bolhuis; Hans-Hilger Ropers; Fons J M Gabreëls
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.
Human genetics 1994;93(2):151-6.
1994: A A W M Gabreëls-Festen; Fons J M Gabreëls; F G I Jennekens; T W Janssen-van Kempen
The status of HMSN type III.
Neuromuscular disorders : NMD 1994;4(1):63-9.
1994: P J Jongen; F W Heessen; Henk ter Laak; Jochem M D Galama; Fons J M Gabreëls
Coxsackie B1 virus-induced murine myositis: relationship of disease severity to virus dose and antiviral antibody response.
Neuromuscular disorders : NMD 1994;4(1):17-23.
1993: M B Ruijs; Antoine Keyser; Fons J M Gabreëls; S L Notermans
Somatosensory evoked potentials and cognitive sequelae in children with closed head-injury.
Neuropediatrics 1993;24(6):307-12.
1993: M B Ruijs; Fons J M Gabreëls; Antoine Keyser
The relation between neurological trauma parameters and long-term outcome in children with closed head injury.
European journal of pediatrics 1993;152(10):844-7.
1993: N Roeleveld; Gerhard A Zielhuis; Fons J M Gabreëls
Mental retardation and parental occupation: a study on the applicability of job exposure matrices.
British journal of industrial medicine 1993;50(10):945-54.
1993: D D de Vries; B G van Engelen; Fons J M Gabreëls; Wim Ruitenbeek; BA van Oost
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
Annals of neurology 1993;34(3):410-2.
1993: P J Poels; Fons J M Gabreëls
Rhabdomyolysis: a review of the literature.
Clinical neurology and neurosurgery 1993;95(3):175-92.
1993: Edwin C M Mariman; A A W M Gabreëls-Festen; Sylvia van Beersum; P J Jongen; Hans-Hilger Ropers; Fons J M Gabreëls
Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.
Human genetics 1993;92(1):87-90.
1993: Yvonne van der Schouw; W A van den Beld; G A van der Sanden; R A Binkhorst; Fons J M Gabreëls; André L M Verbeek
Item assessment in the development of a diagnostic motor performance test for myopathy in children.
Developmental medicine and child neurology 1993;35(7):608-13.
1993: W I Verhagen; A A W M Gabreëls-Festen; P J van Wensen; E M Joosten; H M Vingerhoets; Fons J M Gabreëls; R de Graaf
Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study.
Journal of the neurological sciences 1993;116(2):176-84.
1993: Jessica E Hoogendijk; Emiel Janssen; A A W M Gabreëls-Festen; G W Hensels; E M Joosten; Fons J M Gabreëls; I Zorn; Linda J Valentijn; F Baas; Bram Ongerboer de Visser
Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a).
Neurology 1993;43(5):1010-5.
1993: A A W M Gabreëls-Festen; Fons J M Gabreëls
Hereditary demyelinating motor and sensory neuropathy.
Brain pathology (Zurich, Switzerland) 1993;3(2):135-46.
1993: A T Hageman; Fons J M Gabreëls; Kian Liem; K Renkawek; J M Boon
Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature.
Journal of the neurological sciences 1993;115(1):95-101.
1993: G P Gerrits; Fons J M Gabreëls; Leo A H Monnens; Ronney A De Abreu; B van Raaij-Selten; Klary E Niezen-Koning; J M F Trijbels
Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines.
Neuropediatrics 1993;24(1):15-8.
1993: G P Gerrits; Leo A H Monnens; Fons J M Gabreëls; Ronney A De Abreu; A Koster; J M F Trijbels
Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseases.
Journal of inherited metabolic disease 1993;16(4):670-5.
1993: Q H Leyten; Willy O Renier; Fons J M Gabreëls; Henk ter Laak; L H Hinkofer
Dystrophic myopathy of the diaphragm in a neonate with severe respiratory failure during infectious episodes.
Neuromuscular disorders : NMD 1993;3(1):51-5.
1993: A A W M Gabreëls-Festen; Fons J M Gabreëls; Jessica E Hoogendijk; PA Bolhuis; P J Jongen; H M Vingerhoets
Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria.
Acta neuropathologica 1993;86(6):630-5.
1993: K Renkawek; G C Bosman; F P van Workum; Willem J De Grip; Fons J M Gabreëls
Erythrocyte band 3-like protein immunoreactivity in the human brain cortex.
Developmental neuroscience 1993;15(1):27-30.
1993: Q H Leyten; Henk ter Laak; Fons J M Gabreëls; Willy O Renier; K Renkawek; R C Sengers
Congenital muscular dystrophy. A study on the variability of morphological changes and dystrophin distribution in muscle biopsies.
Acta neuropathologica 1993;86(4):386-92.
1992: Q H Leyten; Fons J M Gabreëls; Willy O Renier; K Renkawek; Henk ter Laak; Reinier A Mullaart
Congenital muscular dystrophy with eye and brain malformations in six Dutch patients.
Neuropediatrics 1992;23(6):316-20.
1992: B G M van Engelen; Q H Leyten; P L Bernsen; Fons J M Gabreëls; F Barkhof; E M Joosten; B C Hamel; Henk ter Laak; M B Ruijs; J R Cruysberg
Familial adult-onset muscular dystrophy with leukoencephalopathy.
Annals of neurology 1992;32(4):577-80.
1992: M B Ruijs; Antoine Keyser; Fons J M Gabreëls
Assessment of post-traumatic amnesia in young children.
Developmental medicine and child neurology 1992;34(10):885-92.
1992: A A W M Gabreëls-Festen; Fons J M Gabreëls; F G I Jennekens; E M Joosten; T W Janssen-van Kempen
Autosomal recessive form of hereditary motor and sensory neuropathy type I.
Neurology 1992;42(9):1755-61.
1992: A A W M Gabreëls-Festen; Fons J M Gabreëls; E M Joosten; H M Vingerhoets; Willy O Renier
Hereditary neuropathy with liability to pressure palsies in childhood.
Neuropediatrics 1992;23(3):138-43.
1992: Jessica E Hoogendijk; G W Hensels; A A W M Gabreëls-Festen; Fons J M Gabreëls; Emiel Janssen; Peter De Jonghe; J J Martin; Christine Van Broeckhoven; Linda J Valentijn; F Baas
De-novo mutation in hereditary motor and sensory neuropathy type I.
Lancet 1992;339(8801):1081-2.
1992: A A W M Gabreëls-Festen; E M Joosten; Fons J M Gabreëls; F G I Jennekens; T W Janssen-van Kempen
Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I).
Journal of the neurological sciences 1992;107(2):145-54.
1992: N Roeleveld; E Vingerhoets; Gerhard A Zielhuis; Fons J M Gabreëls
Mental retardation associated with parental smoking and alcohol consumption before, during, and after pregnancy.
Preventive medicine 1992;21(1):110-9.
1992: K Renkawek; Willy O Renier; J J de Pont; O J Vogels; Fons J M Gabreëls
Neonatal status convulsivus, spongiform encephalopathy, and low activity of Na+/K(+)-ATPase in the brain.
Epilepsia 1992;33(1):58-64.
1991: A A W M Gabreëls-Festen; E M Joosten; Fons J M Gabreëls; F G I Jennekens; R H Gooskens; Dick F Stegeman
Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood.
Brain : a journal of neurology 1991;114 ( Pt 4)():1855-70.
1991: W H J P Linssen; Fons J M Gabreëls; Ron A Wevers
Infective acute transverse myelopathy. Report of two cases.
Neuropediatrics 1991;22(2):107-9.
1991: H L Busard; A A W M Gabreëls-Festen; Willy O Renier; Fons J M Gabreëls; E M Joosten; M A van 't Hof; J B Rensing
Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy.
Annals of neurology 1991;29(4):448-51.
1991: I F de Coo; Fons J M Gabreëls; Willy O Renier; J J de Pont; U J van Haelst; J H Veerkamp; J M F Trijbels; H H Jaspar; K Renkawek
Canavan disease: neuromorphological and biochemical analysis of a brain biopsy specimen.
Clinical neuropathology 1991;10(2):73-8.
1991: J L van Hellenberg Hubar; Fons J M Gabreëls; Wim Ruitenbeek; R C Sengers; Willy O Renier; H O Thijssen; Henk ter Laak
MELAS syndrome. Report of two patients, and comparison with data of 24 patients derived from the literature.
Neuropediatrics 1991;22(1):10-4.
1991: G P Gerrits; Leo A H Monnens; Ronney A De Abreu; Cornelis H Schröder; J M F Trijbels; Fons J M Gabreëls
Disturbances of cerebral purine and pyrimidine metabolism in young children with chronic renal failure.
Nephron 1991;58(3):310-4.
1991: Q H Leyten; K Renkawek; Willy O Renier; Fons J M Gabreëls; C M Mooy; Henk ter Laak; Reinier A Mullaart
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.
Acta neuropathologica 1991;83(1):55-60.
1990: A A W M Gabreëls-Festen; E M Joosten; Fons J M Gabreëls; Dick F Stegeman; A J Vos; H F Busch
Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.
Brain : a journal of neurology 1990;113 ( Pt 6)():1629-43.
1990: N Roeleveld; Gerhard A Zielhuis; Fons J M Gabreëls
Occupational exposure and defects of the central nervous system in offspring: review.
British journal of industrial medicine 1990;47(9):580-8.
1990: W H J P Linssen; Peter Praamstra; Fons J M Gabreëls; J J Rotteveel
Vascular insufficiency of the cervical cord due to hyperextension of the spine.
Pediatric neurology 1990;6(2):123-5.
1990: H L Busard; A A W M Gabreëls-Festen; M A van 't Hof; Willy O Renier; Fons J M Gabreëls
Polyglucosan bodies in sural nerve biopsies.
Acta neuropathologica 1990;80(5):554-7.
1990: Peter Praamstra; R A Wevers; Fons J M Gabreëls; J J Rotteveel; Willy O Renier; R C Sengers; Karel J B Lamers
GM2-gangliosidosis. Clinical and biochemical aspects of four cases.
Clinical neurology and neurosurgery 1990;92(2):143-8.
1990: W H J P Linssen; A P Jansen; Fons J M Gabreëls; H O Thijssen; Karel J B Lamers
Spinal angiomas. The meaning of cerebrospinal fluid lactic acid in the etiology and differential diagnosis of transverse myelopathy.
Clinical neurology and neurosurgery 1990;92(2):131-6.
1990: M B Ruijs; Antoine Keyser; Fons J M Gabreëls
Long-term sequelae of brain damage from closed head injury in children and adolescents.
Clinical neurology and neurosurgery 1990;92(4):323-8.
1989: J W Pasman; Fons J M Gabreëls; B Semmekrot; Willy O Renier; L A Monnens
Hyperkalemic periodic paralysis in Gordon's syndrome: a possible defect in atrial natriuretic peptide function.
Annals of neurology 1989;26(3):392-5.
1989: Q H Leyten; Fons J M Gabreëls; Willy O Renier; Henk ter Laak; R C Sengers; Reinier A Mullaart
Congenital muscular dystrophy.
The Journal of pediatrics 1989;115(2):214-21.
1989: G P Gerrits; F J Trijbels; Leo A H Monnens; Fons J M Gabreëls; Ronney A De Abreu; A G Theeuwes; B van Raay-Selten
Reference values for amino acids in cerebrospinal fluid of children determined using ion-exchange chromatography with fluorimetric detection.
Clinica chimica acta; international journal of clinical chemistry 1989;182(3):271-80.
1989: H L Busard; Willy O Renier; Fons J M Gabreëls; J M F Trijbels; A J Janssen; Karel J B Lamers
Pyruvate metabolism in Lafora disease.
Epilepsia 1989;30(3):314-7.
1989: P M van Erven; Willy O Renier; Fons J M Gabreëls; H O Thijssen; W Ruitenbeek; Martin Horstink
Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases.
Developmental medicine and child neurology 1989;31(1):81-91.
1989: R A Bernsen; H L Busard; Henk ter Laak; Fons J M Gabreëls; Willy O Renier; E M Joosten; A G Theeuwes
Polyglucosan bodies in intramuscular motor nerves.
Acta neuropathologica 1989;77(6):629-33.
1988: W H J P Linssen; T J Fiselier; Fons J M Gabreëls; Ron A Wevers; M P Cuppen; J J Rotteveel
Acute transverse myelopathy as the initial manifestation of probable systemic lupus erythematosus in a child.
Neuropediatrics 1988;19(4):212-5.
1988: Willy O Renier; Fons J M Gabreëls; H H Jaspar
Morphological and biochemical analysis of a brain biopsy in a case of idiopathic Lennox-Gastaut syndrome.
Epilepsia 1988;29(5):644-9.
1988: G P Gerrits; A A Haagen; Ronney A De Abreu; Leo A H Monnens; Fons J M Gabreëls; F J Trijbels; A L Theeuwes; J M van Baal
Reference values for nucleosides and nucleobases in cerebrospinal fluid of children.
Clinical chemistry 1988;34(7):1439-42.
1988: P M Van Erven; Fons J M Gabreëls; Wim Ruitenbeek; Willy O Renier; Henk ter Laak; A M Stadhouders
A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle.
Journal of neurology, neurosurgery, and psychiatry 1988;51(5):704-8.
1988: H L van Laack; Wim Ruitenbeek; J M F Trijbels; Rob C A Sengers; Fons J M Gabreëls; A J Janssen; C M Kerkhof
Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.
Clinica chimica acta; international journal of clinical chemistry 1988;171(1):109-18.
1987: P H Jansen; Willy O Renier; G de Vaan; P Reekers; D M Vingerhoets; Fons J M Gabreëls
Effect of thymectomy on myasthenia gravis and autoimmune thrombocytopenic purpura in a 13-year-old girl.
European journal of pediatrics 1987;146(6):587-9.
1987: Karel J B Lamers; W H Doesburg; Fons J M Gabreëls; A C Romsom; Wim A J G Lemmens; Ron A Wevers; Willy O Renier
CSF concentration and CSF/blood ratio of fuel related components in children after prolonged fasting.
Clinica chimica acta; international journal of clinical chemistry 1987;167(2):135-45.
1987: P M van Erven; Fons J M Gabreëls; Wim Ruitenbeek; Willy O Renier; J C Fischer
Mitochondrial encephalomyopathy. Association with an NADH dehydrogenase deficiency.
Archives of neurology 1987;44(7):775-8.
1987: Ben A Semmekrot; L Monnens; B G Theelen; Wolfgang Rascher; Fons J M Gabreëls; J Willems
The syndrome of hypertension and hyperkalaemia with normal glomerular function (Gordon's syndrome). A pathophysiological study.
Pediatric nephrology (Berlin, Germany) 1987;1(3):473-8.
1987: H L Busard; A A W M Gabreëls-Festen; Willy O Renier; Fons J M Gabreëls; A M Stadhouders
Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease.
Annals of neurology 1987;21(6):599-601.
1987: P M van Erven; Fons J M Gabreëls; Wim Ruitenbeek; Willy O Renier; Karel J B Lamers; J L Sloof
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain.
Journal of neurology 1987;234(4):215-9.
1987: P M Van Erven; Fons J M Gabreëls; R A Wevers; W H Doesburg; Wim Ruitenbeek; Willy O Renier; Karel J B Lamers
Intravenous pyruvate loading test in Leigh syndrome.
Journal of the neurological sciences 1987;77(2-3):217-27.
1987: P H Jansen; H C Schoonderwaldt; Willy O Renier; R A Wevers; Fons J M Gabreëls
Mannosidosis: a study of two patients, presenting clinical heterogeneity.
Clinical neurology and neurosurgery 1987;89(3):185-92.
1987: P M van Erven; J P Cillessen; E M Eekhoff; Fons J M Gabreëls; W H Doesburg; Wim A J G Lemmens; J L Slooff; Willy O Renier; Wim Ruitenbeek
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature.
Clinical neurology and neurosurgery 1987;89(4):217-30.
1987: P J Jongen; Fons J M Gabreëls; J H Stekhoven; Willy O Renier; R le Coultre; J H Begeer
Early infantile form of neuronal ceroid lipofuscinosis. Four Dutch cases and review of the literature.
Clinical neurology and neurosurgery 1987;89(3):161-7.
1987: H L Busard; Willy O Renier; Fons J M Gabreëls; H H Jaspar; J L Slooff; A J Janssen; U J Van Haelst
Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex.
Clinical neuropathology 1987;6(1):1-6.
1986: P M Van Erven; J C Fischer; Fons J M Gabreëls; Willy O Renier; J M F Trijbels; A J Janssen
Defect of NADH dehydrogenase in Leigh syndrome.
Acta neurologica Scandinavica 1986;74(2):167.
1986: H L van Laack; A J Janssen; Wim Ruitenbeek; J M F Trijbels; Rob C A Sengers; Fons J M Gabreëls
Measurement of radioactivity of pyruvate and other 2-oxo-acids labelled at the 1-position.
Clinica chimica acta; international journal of clinical chemistry 1986;156(1):115-8.
1986: B L Busard; Willy O Renier; Fons J M Gabreëls; H H Jaspar; U J van Haelst; J L Slooff
Lafora's disease. Comparison of inclusion bodies in skin and in brain.
Archives of neurology 1986;43(3):296-9.
1986: J C Fischer; Wim Ruitenbeek; Fons J M Gabreëls; A J Janssen; Willy O Renier; Rob C A Sengers; A M Stadhouders; Henk ter Laak; J M F Trijbels; J H Veerkamp
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.
European journal of pediatrics 1986;144(5):441-4.
1986: A A W M Gabreëls-Festen; A T Hageman; Fons J M Gabreëls; E M Joosten; W O Renier; C M Weemaes; Henk ter Laak
Chronic inflammatory demyelinating polyneuropathy in two siblings.
Journal of neurology, neurosurgery, and psychiatry 1986;49(2):152-6.
1986: P M van Erven; Wim Ruitenbeek; Fons J M Gabreëls; Willy O Renier; J C Fischer; A J Janssen
Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome).
Neuropediatrics 1986;17(1):28-32.
1986: Q H Leyten; Fons J M Gabreëls; E M Joosten; Willy O Renier; Henk ter Laak; B G Ter Haar; A M Stadhouders
An autosomal dominant type of congenital muscular dystrophy.
Brain & development 1986;8(5):533-7.
1985: Karel J B Lamers; W H Doesburg; Fons J M Gabreëls; Wim A J G Lemmens; A C Romsom; Ron A Wevers; Willy O Renier
The concentration of blood components related to fuel metabolism during prolonged fasting in children.
Clinica chimica acta; international journal of clinical chemistry 1985;152(1-2):155-63.
1985: P M Van Erven; Fons J M Gabreëls; Wim Ruitenbeek; M R Den Hartog; J C Fischer; Willy O Renier; J M F Trijbels; J L Slooff; A J Janssen
Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver.
Acta neurologica Scandinavica 1985;72(1):36-42.
1985: Karel J B Lamers; W H Doesburg; Fons J M Gabreëls; A C Romsom; Willy O Renier; Ron A Wevers; Wim A J G Lemmens
Reference values of blood components related to fuel metabolism in children after an overnight fast.
Clinica chimica acta; international journal of clinical chemistry 1985;145(1):17-26.
1985: C J Stevering; Fons J M Gabreëls; R J Lippens; Willy O Renier; H O Thijssen; H J ter Laak
Treatment of leptomeningeal dissemination of medulloblastoma. Report of a case with a long-term survival.
Clinical neurology and neurosurgery 1985;87(4):291-6.
1984: Fons J M Gabreëls; M J Prick; J M F Trijbels; Willy O Renier; H H Jaspar; A J Janssen; J L Slooff
Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy.
Acta neurologica Scandinavica 1984;70(3):145-54.
1983: Willy O Renier; F A Nabben; T W Hustinx; J H Veerkamp; B J Otten; Henk ter Laak; B G Ter Haar; Fons J M Gabreëls
Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
Clinical genetics 1983;24(4):243-51.
1983: M G Smits; R A de Abreu; P G Froeling; Fons J M Gabreëls
Presence of cerebral parathyroid hormone--responsive adenylcyclase in humans.
Annals of neurology 1983;14(3):348-9.
1983: Willy O Renier; Fons J M Gabreëls; T W Hustinx; H O Thijssen; B G Ter Haar; E W Kroll; H Beckers
Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle.
Brain & development 1983;5(1):41-5.
1983: M G Smits; Fons J M Gabreëls; P G Froeling; R A de Abreu; H O Thijssen; Willy O Renier
Calcium-phosphate metabolism in autosomal recessive idiopathic strio-pallido-dentate calcinosis and Cockayne's syndrome.
Clinical neurology and neurosurgery 1983;85(3):145-53.
1983: M J Prick; Fons J M Gabreëls; J M F Trijbels; A J Janssen; R le Coultre; K van Dam; H H Jaspar; E J Ebels; A A Op de Coul
Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.
Clinical neurology and neurosurgery 1983;85(1):57-70.
1982: M G Smits; Fons J M Gabreëls; Willy O Renier; E M Joosten; A A W M Gabreëls-Festen; Henk ter Laak; Alfred J L G Pinckers; G C Hombergen; S L Notermans; H O Thijssen
Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.
Neuropediatrics 1982;13(3):161-7.
1982: M J Prick; Fons J M Gabreëls; Willy O Renier; J M F Trijbels; J L Willems; A J Janssen; J L Slooff; J A Geelen; J P de Jager
Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts.
Neuropediatrics 1982;13(2):108-11.
1982: Willy O Renier; Fons J M Gabreëls; H H Jasper; T W Hustinx; J A Geelen; U J van Haelst
An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness.
Journal of mental deficiency research 1982;26(Pt 1):27-40.
1982: P M van Erven; Fons J M Gabreëls; H O Thijssen; Willy O Renier
The Moya-Moya syndrome: a report of two children.
Clinical neurology and neurosurgery 1982;84(3):179-89.
1982: Willy O Renier; B G Ter Haar; J L Slooff; T W Hustinx; Fons J M Gabreëls
X-linked congenital hydrocephalus.
Clinical neurology and neurosurgery 1982;84(2):113-23.
1981: M J Prick; Fons J M Gabreëls; Willy O Renier; J M F Trijbels; R C Sengers; J L Slooff
Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver.
Archives of neurology 1981;38(12):767-72.
1981: Willy O Renier; Fons J M Gabreëls; T W Hustinx; H H Jaspar; J A Geelen; U J Van Haelst; E J Lommen; B G Ter Haar
Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins.
Acta neuropathologica 1981;54(1):11-7.
1981: S J Duinkerke; J L Slooff; Fons J M Gabreëls; Willy O Renier; H O Thijssen; J H Biesta
Melanotic rhabdomyomedulloblastoma or teratoid tumour of the cerebellar vermis.
Clinical neurology and neurosurgery 1981;83(1):29-33.