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Henk J. Ter Laak

Henk J. Ter Laak,University Medical Center St Radboud Nijmegen,Neuroscience,Pathology,Family Medicine

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Henk J. Ter Laak

University Medical Center St Radboud Nijmegen

Publications: 71 | Citations: 450

Fields: Neuroscience, Pathology, Family Medicine

Collaborated with 229 co-authors from 1976 to 2008 | Cited by 1580 authors

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Publications (71)

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Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs (Citations: 12)

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Journal: Clinical Genetics - CLIN GENET , vol. 24, no. 4, pp. 243-251, 2008

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system (Citations: 7)

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Journal: Annals of Neurology - ANN NEUROL , vol. 63, no. 4, pp. 473-481, 2008

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? (Citations: 7)

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Journal: Neurology , vol. 70, no. 20, pp. 1876-1882, 2008

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

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Journal: American Journal of Medical Genetics Part A - AM J MED GENET PART A , vol. 146A, no. 23, pp. 3100-3103, 2008

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma ( POLG1 ) mutations (Citations: 15)

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Journal: European Journal of Pediatrics - EUR J PEDIAT , vol. 166, no. 3, pp. 229-234, 2007

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Citations (450 times by 430 publications)

Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes

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Journal: Journal of Sports Sciences - J SPORT SCI , vol. 30, no. 1, pp. 31-35, 2012

Biochemical diagnosis of mitochondrial disorders (Citations: 5)

Journal: Journal of Inherited Metabolic Disease - J INHERIT METAB DIS , vol. 34, no. 2, pp. 283-292, 2011

Inter-model consistency and complementarity: Learning from ex-vivo imaging and electrophysiological data towards an integrated understanding of cardiac physiology (Citations: 2)

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Journal: Progress in Biophysics & Molecular Biology - PROG BIOPHYS MOL BIOL , vol. 107, no. 1, pp. 122-133, 2011

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome (Citations: 1)

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Journal: BMC Neurology - BMC NEUROL , vol. 11, no. 1, pp. 4-7, 2011

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient (Citations: 1)

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Journal: Journal of Neurology - J NEUROL , vol. 258, no. 6, pp. 1157-1163, 2011

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Co-authors (229)

Journals (35)

Keywords (140)

Henk J. Ter Laak,University Medical Center St Radboud Nijmegen,Neuroscience,Pathology,Family Medicine

Publications (71)

BibTeX | RIS | RefWorks Download

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs (Citations: 12)

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system (Citations: 7)

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? (Citations: 7)

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma ( POLG1 ) mutations (Citations: 15)

Citations (450 times by 430 publications)

Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes

Biochemical diagnosis of mitochondrial disorders (Citations: 5)

Inter-model consistency and complementarity: Learning from ex-vivo imaging and electrophysiological data towards an integrated understanding of cardiac physiology (Citations: 2)

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome (Citations: 1)

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient (Citations: 1)


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Co-authors (229)

Journals (35)

Keywords (140)

Henk J. Ter Laak,University Medical Center St Radboud Nijmegen,Neuroscience,Pathology,Family Medicine

Publications (71) BibTeX | RIS | RefWorks Download

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs (Citations: 12)

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system (Citations: 7)

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? (Citations: 7)

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma ( POLG1 ) mutations (Citations: 15)

Citations (450 times by 430 publications)

Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes

Biochemical diagnosis of mitochondrial disorders (Citations: 5)

Inter-model consistency and complementarity: Learning from ex-vivo imaging and electrophysiological data towards an integrated understanding of cardiac physiology (Citations: 2)

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome (Citations: 1)

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient (Citations: 1)

Publications (71)

BibTeX | RIS | RefWorks Download