Search filters

List of works by Fons John Marie Gabreëls

A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia ⬇️

scientific article published on February 1, 1998

A mentally retarded child with a translocation involving chromosomes 12 and 19 ⬇️

scientific article published on June 1, 1975

A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle

scientific article

A new leukoencephalopathy with vanishing white matter

scientific article published in April 1997

A new motor performance test in a prospective study on children with suspected myopathy

scientific article published on September 2006

A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine

scientific article published in August 1981

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

scientific article published in June 1999

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

scientific article

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

scientific article published on 01 September 1993

A systematic review for evidence of efficacy of anticholinergic drugs to treat drooling ⬇️

scientific article published on October 1, 2003

Acute transverse myelopathy as the initial manifestation of probable systemic lupus erythematosus in a child

scientific article published on 01 November 1988

Adult polyglucosan body disease: The diagnostic value of axilla skin biopsy ⬇️

scientific article published on 01 April 1991

Agenesis of the corpus callosum, chorioretinopathy and infantile spasms (Aicardi syndrome).

scientific article published in January 1973

An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness.

scientific article published on March 1982

An atypical case of infantile globoid cell leukodystrophy

scientific article published on 01 May 1983

An autosomal dominant type of congenital muscular dystrophy

scientific article published in January 1986

Anomalies of the cerebral cortex in a case of epilepsia partialis continua

scientific article published in January 1988

Antihypertensive treatment during pregnancy and functional development at primary school age in a historical cohort study.

scientific article published on 19 May 2010

Are muscle cramps in Isaacs' syndrome triggered by human immunoglobulin?

scientific article published on March 1995

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 ⬇️

scientific article published on February 1, 1993

Aspirin and pregnancy

scientific article published on 01 September 1990

Assessment of post-traumatic amnesia in young children

scientific article published on October 1, 1992

Association of congenital muscular dystrophy with hypoplasia of the lateral abdominal wall musculature and hypoplasia of the external genitalia

scientific article published on 01 April 1996

Ataxia-telangiectasia (Louis Bar syndrome): with special reference to findings in the peripheral nervous system

scientific article published on 01 November 1973

Autosomal dominant idiopathic hypoparathyroidism and nervous system dysfunction: report of three cases and review of the literature ⬇️

scientific article published on January 1, 1982

Autosomal dominant paroxysmal kinesigenic choreoathetosis. An electroneurophysiological study

scientific article

Autosomal recessive form of hereditary motor and sensory neuropathy type I.

scientific article published on September 1992

Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease

scientific article published on June 1987

Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families

scientific article published in January 1985

Bilateral episodic mydriasis as a migraine equivalent in childhood: a case report

scientific article published in June 1991

Botulinum toxin effect on salivary flow rate in children with cerebral palsy

scientific article published in October 2004

CSF concentration and CSF/blood ratio of fuel related components in children after prolonged fasting

scientific article published in August 1987

Canavan disease: neuromorphological and biochemical analysis of a brain biopsy specimen

scientific article

Canavan disease: value of N-acetylaspartic aciduria?

scientific article published on May 1, 1991

Cerebrospinal Fluid Levels of Amino Acids in Infants and Young Children with Chronic Renal Failure ⬇️

scientific article published on February 1, 1998

Cerebrospinal fluid examinations in cryptogenic West and Lennox-Gastaut syndrome before and after intravenous immunoglobulin administration

scientific article published in June 1994

Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings

scientific article published in December 2000

Choroid plexus carcinoma: a report of two cases and review of the literature.

scientific article published on June 1996

Chronic inflammatory demyelinating polyneuropathy as a complication of cat scratch disease

scientific article published in June 2000

Chronic inflammatory demyelinating polyneuropathy in two siblings

scientific article

Clinical neurological trauma parameters as predictors for neuropsychological recovery and long-term outcome in paediatric closed head injury: a review of the literature

scientific article published on November 1994

Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency

scientific article

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome

scientific article

Coarticulation patterns in children with developmental apraxia of speech

scientific article published in September 2002

Comparison of 3 instruments to measure muscle strength in children: A prospective study ⬇️

scientific article published on 01 July 2011

Complex regional pain syndrome type I (RSD): pathology of skeletal muscle and peripheral nerve

scientific article published on July 1998

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs ⬇️

scientific article published on October 1, 1983

Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths

scientific article published in December 1990

Congenital fibre type disproportion a time-locked diagnosis: a clinical and morphological follow-up study

scientific article

Congenital muscular dystrophy with eye and brain malformations in six Dutch patients

scientific article published on December 1, 1992

Congenital muscular dystrophy: a review of the literature

scientific article published on November 1996

Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature

scientific article published on March 1993

Coxsackie B1 virus-induced murine myositis: a correlative study of muscular lesions and serological changes

scientific article

Coxsackie B1 virus-induced murine myositis: relationship of disease severity to virus dose and antiviral antibody response

scientific article published in January 1994

Decreased immunoglobulin class switching in nijmegen breakage syndrome due to the DNA repair defect ⬇️

scientific article published on December 1, 2001

Defect of NADH dehydrogenase in Leigh syndrome

scientific article published in August 1986

Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy

scientific article published in September 1984

Development and developmental disorders of the human brain. II. Development of the cerebral cortex and major tract systems

scientific article

Development and developmental disorders of the human brain. III. Neuronal migration disorders of the cerebrum

scientific article

Diagnosis and differential diagnosis of muscle cramps: a clinical approach

scientific article published on December 2002

Differential diagnostic considerations in a patient with proximal muscular weakness

scientific article published on 01 November 1970

Dihydropyrimidine dehydrogenase deficiency. Neurological aspects

scientific article published on March 1987

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

scientific article published on 01 July 2006

Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome).

scientific article published in February 1986

Early infantile form of neuronal ceroid lipofuscinosis. Four Dutch cases and review of the literature

scientific article published on January 1987

Effect of thymectomy on myasthenia gravis and autoimmune thrombocytopenic purpura in a 13-year-old girl

scientific article

Electron-microscopic heterogeneity of onion-bulb neuropathies of the Déjerine-Sottas type. Two patients in one family with the variant described by Lyon (1969).

scientific article published in February 1974

Erythrocyte band 3-like protein immunoreactivity in the human brain cortex

scientific article published in January 1993

Evaluation of diagnosis and non-surgical therapy in 24 children with a pontine tumour ⬇️

scientific article published on August 1, 1980

Familial essential myoclonus

scientific article

Fasting studies in cerebrospinal fluid and blood in children with epilepsy of unknown origin

scientific article published in May 1995

Feature analysis of singleton consonant errors in developmental verbal dyspraxia (DVD).

scientific article published on December 1994

Fetal periventricular hemorrhage in von Willebrand's disease: short review and first case presentation

scientific article published on May 1991

Fever convulsions

scientific article

Fragmented visuospatial processing in children with pervasive developmental disorder

scientific article published in November 2006

Friedreich ataxia and low pyruvate carboxylase activity in liver and fibroblasts

scientific article published on 01 March 1983

Friedreich's ataxia: intravenous pyruvate load to demonstrate a defect in pyruvate metabolism

scientific article published on 01 November 1984

Generalized hypertrophic myopathy associated with chorioretinal dystrophy and struma lymphomatosa--a case report

scientific article published on 01 August 1984

Hereditary demyelinating motor and sensory neuropathy

scientific article published on April 1993

Hereditary motor and sensory neuropathies. Present status of types I, II and III.

scientific article

Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood

scientific article published in August 1991

Hereditary neuropathy with liability to pressure palsies in childhood

scientific article published on 01 June 1992

Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene

scientific article published on 01 October 2002

Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation ⬇️

scientific article published on August 1, 1998

Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy

scientific article

Heterogeneity of spina bifida ⬇️

scientific article published on April 1, 1997

Histology of hereditary neuralgic amyotrophy

scientific article

Hyperemesis gravidarum, a disorder with complications

scientific article published on 01 April 1970

Hyperkalemic periodic paralysis in Gordon's syndrome: a possible defect in atrial natriuretic peptide function

scientific article published in September 1989

Hypertrophy of peripheral nerves in the syndrome of multiple mucosal neuromas, endocrine tumours and Marfanoid habitus. Autonomic disturbances and sural nerve findings

scientific article published on 01 January 1974

Idiopathic neuralgic amyotrophy in children. A distinct phenotype compared to the adult form

scientific article

Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes ⬇️

scientific article published on July 1, 1998

Immunoglobulin treatment in epilepsy, a review of the literature ⬇️

scientific article published on December 1, 1994

Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter

article by Marjo S. van der Knaap et al published November 1999 in Journal of Child Neurology

Infective acute transverse myelopathy. Report of two cases.

scientific article published in May 1991

Intellectual sequelae of primary non-obstructive hydrocephalus in infancy: analysis of 50 cases

scientific article published in January 1985

Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature

scientific article

Involvement of sural nerve in neuronal ceroid-lipofuscinoses: report of two cases

scientific article

Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation

scientific article published on March 1996

L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency

scientific article published in December 2000

Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex.

scientific article published in January 1987

Lafora's disease. Comparison of inclusion bodies in skin and in brain

scientific article published in March 1986

Laminin-α2 (merosin), β-dystroglycan, α-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: An immunohistochemical study ⬇️

scientific article published on March 1, 1998

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

scientific article

Letter: A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness

scientific article published on June 1, 1975

Long-term sequelae of brain damage from closed head injury in children and adolescents

scientific article published in January 1990

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings

scientific article published in February 2002

MELAS syndrome. Report of two patients, and comparison with data of 24 patients derived from the literature

scientific article

MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy

scientific article published in April 2004

Maternal occupational exposure during pregnancy and the risk of spina bifida

scientific article

Melanotic rhabdomyomedulloblastoma or teratoid tumour of the cerebellar vermis ⬇️

scientific article published on January 1, 1981

Mental retardation and parental occupation: a study on the applicability of job exposure matrices.

scientific article

Mental retardation associated with parental smoking and alcohol consumption before, during, and after pregnancy ⬇️

scientific article published on January 1, 1992

Mitochondrial myopathies

scientific article published on 01 January 1999

Molecular genetic analysis of human folate receptors in neural tube defects

scientific article published on 01 April 1999

Multicore myopathy with restrictive cardiomyopathy ⬇️

scientific article published on November 1, 1997

Muscle reflexes and synergies triggered by an unexpected support surface height during walking.

scientific article

Neonatal Status Convulsivus, Spongiform Encephalopathy, and Low Activity of Na+/K+ ‐ATPase in the Brain ⬇️

scientific article published on January 1, 1992

Neuroinvasion by human herpesvirus type 7 in a case of exanthem subitum with severe neurologic manifestations

scientific article

Neurophysiological studies in the Leigh syndrome

scientific article published in January 1986

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.

scientific article published in June 2001

Nijmegen breakage syndrome: a neuropathological study

scientific article published on August 2003

Nonmuscular involvement in merosin-negative congenital muscular dystrophy

scientific article published on 01 January 2002

Occupational exposure and defects of the central nervous system in offspring: review

scientific article

Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression

scientific article published on 01 December 1999

Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings

scientific article published in August 1982

Phenotypic expression in mucopolysaccharidosis VII.

scientific article

Planning of syllables in children with developmental apraxia of speech ⬇️

scientific article published on January 1, 2003

Polyglucosan bodies in brain tissue: a systematic study

scientific article

Presence of cerebral parathyroid hormone--responsive adenylcyclase in humans ⬇️

scientific article published on 01 September 1983

Preterm birth in Sjögren-Larsson syndrome

scientific article published on 01 December 1999

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts.

scientific article published in May 1982

Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients

scientific article published in January 1983

Psychometric assessment of families with X-linked mental retardation

scientific article published in April 1999

Pyruvate carboxylase activity is not abnormal in fibroblasts of patients with Friedreich's ataxia

scientific article published on 01 August 1984

Pyruvate dehydrogenase deficiency restricted to brain.

scientific article published in April 1981

Quantitative assessment of speech in myotonic dystrophy

scientific article published on 01 February 1995

Recessively inherited 'pure' spastic paraplegia: case study

scientific article

Recurrent alternating facial paralysis and malignant hypertension

scientific article published on 01 December 2000

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency

scientific article

Rhabdomyolysis associated with malaria tertiana in a patient with myoadenylate deaminase deficiency.

scientific article published on January 1993

Scheie Syndrome Presenting as Myopathy

scientific article published on 01 April 2001

Seasonal variation in the prevalence of Down syndrome at birth: a review ⬇️

scientific article published on August 1, 1997

Seven cases of huntington's disease in childhood and levodopa induced improvement in the hypokinetic — Rigid form ⬇️

scientific article published on January 1, 1980

Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients

scientific article published in April 1999

Somatosensory evoked potentials and cognitive sequelae in children with closed head-injury

scientific article published in December 1993

Spina bifida and parental occupation

scientific article published in March 1996

Spinal angiomas. The meaning of cerebrospinal fluid lactic acid in the etiology and differential diagnosis of transverse myelopathy

scientific article published on January 1990

Spinal muscular atrophy combined with congenital heart disease: a report of two cases.

scientific article

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.

scientific article

Subdural empyema. The importance of rapid diagnosis

scientific article published on 01 December 1991

Sural nerve biopsy in the diagnosis of progressive cerebral degenerative disorders of childhood. A retrospective study

scientific article

The Aircardi-Goutières syndrome: variable clinical expression in two siblings

scientific article published in May 1997

The Biochemical Differentiation between Heterozygote Carriers of Metachromatic Leucodystrophy and Normal Persons ⬇️

scientific article published on 01 April 1971

The Diagnostic Value of Sural Nerve Biopsy in Metachromatic Leucodystrophy and Other Conditions with Low Leucocyte Arylsulphatase A Activities ⬇️

scientific article published on 01 February 1982

The Martin-Bell syndrome: a psychological, logopaedic and cytogenetic study of two affected brothers

scientific article published on 01 March 1983

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients

scientific article published in April 1997

The neuropathy of Cockayne syndrome

scientific article published on 01 January 1983

The prevalence of mental retardation: a critical review of recent literature.

scientific article published on February 1997

The status of HMSN type III.

scientific article published on January 1994

The syndrome of hypertension and hyperkalaemia with normal glomerular function (Gordon's syndrome). A pathophysiological study

scientific article published on 01 July 1987

The treatment of drooling by ultrasound-guided intraglandular injections of botulinum toxin type A into the salivary glands

scientific article published in January 2003

The utility of electroencephalography and cerebral computed tomography in children with mild and moderately severe closed head injuries

scientific article

Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease

scientific article published on June 13, 1998

Towards a standardised assessment procedure for developmental apraxia of speech.

scientific article published in January 1997

Traumatic versus perinatally acquired dysarthria: assessment by means of speech-like maximum performance tasks.

scientific article

Treatment of leptomeningeal dissemination of medulloblastoma. Report of a case with a long-term survival

scientific article published on January 1985

Validity and reproducibility of a new diagnostic motor performance test in children with suspected myopathy

scientific article published in January 2006

Validity and reproducibility of hand-held dynamometry in children aged 4-11 years

scientific article published on 01 January 2006

Validity and reproducibility of the Jamar dynamometer in children aged 4-11 years

scientific article published in November 2006

X-Linked congenital hydrocephalus ⬇️

scientific article published on January 1, 1982

[Active euthanasia in newborn infants with spina bifida?]

scientific article published on 01 February 1996

[Clinical symptoms of mitochondrial myopathies]

scientific article published on 01 June 1988

[Congenital myopathies]

scientific article published on 01 June 1988

[Future prospects for children with spina bifida aperta]

scientific article published on 01 October 1996

[Perinatal morbidity]

scientific article published on 01 March 1976

[The gangliosidoses]

scientific article published on 01 May 1973

Paulina is supported by:

About Paulina

Help