P. Bolhuis

发表

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

E. Bertini, C. Wallgren‐Pettersson, J. Mandel, 1997, Human molecular genetics.

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

F. Baas, J. Mcleod, J. Pollard, 1994, Nature Genetics.

Anodic reactions of 9,10-diphenylanthracene and rubrene with methylisocyanide, triethylamine, n-butylamine and pyridine

P. Bolhuis, 1980 .

Caprine homologue of rodent 5'-AMP-activated protein kinase subunit and yeast SNF4/CAT3 is down-regulated by thyroid hormone.

F. Baas, L. Valentijn, N. Ponne, 1996, Brain research. Molecular brain research.

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

B. V. van Oost, J. Mandel, M. Ligtenberg, 1995, American journal of human genetics.

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

D. Mackey, T. Rosenberg, A. Harding, 1996, American journal of human genetics.

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

F. Baas, M. de Visser, P. Bolhuis, 1996, Annals of neurology.

Immunocytochemical localization of fibrinogen, platelet factor 4, and beta thromboglobulin in thin frozen sections of human blood platelets.

J. Slot, J. Sixma, D. Pepper, 1983, The Journal of clinical investigation.

Inherited demyelinating peripheral neuropathies: Relating myelin packing abnormalities to P0 molecular defects

D. Kirschner, P. Bolhuis, K. Szumowski, 1996 .

The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain.

E. Bleeker-Wagemakers, R. Oostra, P. Bolhuis, 1995, Biochemical and biophysical research communications.

Mitochondria in cultured human muscle cells depleted of mitochondrial DNA.

H. Dekker, M. van den Berg, P. Bolhuis, 1993, European Journal of Cell Biology.

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

E. Mariman, F. Gabreëls, P. Jongen, 1998, Brain : a journal of neurology.

Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype

A. Hart, B. de Visser, M. de Visser, 1994, Muscle & nerve.

No evidence for ‘skewed’ inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers

S. Kemp, R. Oostra, P. Bolhuis, 1996, Human Genetics.

Regulation of the expression of mitochondrial proteins: relationship between mtDNA copy number and cytochrome-c oxidase activity in human cells and tissues.

M. Holtrop, J. Taanman, H. Dekker, 1993, Biochimica et biophysica acta.

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

F. Baas, P. Barth, P. Bolhuis, 1991, American journal of human genetics.

Differential Approaches to Therapy in Lysosomal Storage Disorders

A. Reuser, P. Bolhuis, A. T. van der Ploeg, 1988 .

UvA-DARE ( Digital Academic Repository ) Collagen VI mutations in Bethlem myopathy

F. Baas, M. de Visser, J. Boers, 2012 .

Action of lovastatin, simvastatin, and pravastatin on sterol synthesis and their antiproliferative effect in cultured myoblasts from human striated muscle.

P. Bolhuis, P. Nègre-Aminou, A. V. van Vliet, 1996, Biochemical pharmacology.

Mitochondrial Function and Biogenesis in Cultured Mammalian Cells without Functional Respiratory Chains

J. N. Spelbrink, H. Dekker, P. Bolhuis, 1992 .

Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.

F. Baas, L. Valentijn, M. de Visser, 1993, Human molecular genetics.

Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy?

F. Gabreëls, P. Jongen, H. Vingerhoets, 1993, Acta Neuropathologica.

Binding of factor VIII-von Willebrand factor to human arterial subendothelium precedes increased platelet adhesion and enhances platelet spreading.

J. Sixma, K. Sakariassen, B. Bouma, 1981, The Journal of laboratory and clinical medicine.

Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutation

F. Baas, L. Valentijn, G. Nicholson, 1995, Human mutation.

Differentiation and proliferation of respiration-deficient human myoblasts.

R. Zwart, R. Wanders, J. Ruiter, 1993, Biochimica et biophysica acta.

RC3/neurogranin structure and expression in the caprine brain in relation to congenital hypothyroidism.

F. Baas, N. Ponne, P. Bolhuis, 1995, Brain research. Molecular brain research.

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

F. Gabreëls, L. Valentijn, E. Eshuis, 2004, Acta Neuropathologica.

X chromosome inactivation in carriers of Barth syndrome.

D. Toniolo, A. Naumova, P. Barth, 1998, American journal of human genetics.

Concentrations of amyloid-β protein in cerebrospinal fluid increase with age in patients free from neurodegenerative disease

D. Schenk, W. A. Gool, P. Bolhuis, 1994, Neuroscience Letters.

Isoforms of cytochrome c oxidase in tissues and cell lines of the mouse.

A. V. van Kuilenburg, H. Dekker, A. Muijsers, 1992, Biochimica et biophysica acta.

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

F. Baas, M. Speer, M. Visser, 1996, Nature Genetics.

Receptor-Mediated Uptake of Acid α-Glucosidase Corrects Lysosomal Glycogen Storage in Cultured Skeletal Muscle

H. Galjaard, A. Reuser, H. Busch, 1988, Pediatric Research.

Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

A. Reuser, H. Busch, P. Bolhuis, 1988, Journal of Neurology.

The spectral stability of several sunscreening agents on stratum corneum sheets

P. Bolhuis, E. Hische, P. Bolhuis, 1987, International Journal of Cosmetic Science.

Brain gangliosides in the presenile dementia of Pick.

P. Bolhuis, J. D. de Jong, P. de Groot, 1986, Journal of neurology, neurosurgery, and psychiatry.

Adhesion of platelets to human artery subendothelium: effect of factor VIII-von Willebrand factor of various multimeric composition.

J. Sixma, K. Sakariassen, P. Bolhuis, 1984, Blood.

The Role of Factor VIII-von Willebrand Factor in Adhesion of Platelets to the Vessel Wall

J. Sixma, K. Sakariassen, P. Bolhuis, 1982 .

Major growth reduction and minor decrease in mitochondrial enzyme activity in cultured human muscle cells after exposure to zidovudine

R. Zwart, P. Portegies, P. Bolhuis, 1992, Muscle & nerve.

Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients.

W. J. Visser, A. Reuser, M. Kroos, 1984, Experimental cell research.

Ganglioside storage, hexosarninidase lability, and urinary oligosaccharides in adult Sandhoff's disease

J. Michalski, A. Reuser, B. Overdijk, 1987, Neurology.

Collagen synthesis in cultured myoblasts and myotubes from patients with Duchenne muscular dystrophy

L. Jong, P. Bolhuis, R. Wolterman, 1987, Journal of the Neurological Sciences.

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts

R. Schutgens, A. Ketel, P. Barth, 1996, Journal of Inherited Metabolic Disease.

Migraine and Platelet Aggregation in Patients Treated With Low Dose Acetylsalicylic Acid

P. Bolhuis, P. Bolhuis, S. L. Hosman-Benjaminse, 1986, Headache.

Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human β-hexosaminidase β-chain

W. Kleijer, J. D. Vijlder, P. Bolhuis, 1990, Human Genetics.

Two intronic mutations in the adrenoleukodystrophy gene

B. V. van Oost, M. Ligtenberg, P. Barth, 1995, Human mutation.

Platelet adherence to subendothelium of human arteries in pulsatile and steady flow.

J. Sixma, K. Sakariassen, P. Bolhuis, 1980, Thrombosis research.

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

J. D. Vijlder, P. Bolhuis, H. Bikker, 1989, Human Genetics.

Human blood platelet adhesion to artery subendothelium is mediated by factor VIII–Von Willebrand factor bound to the subendothelium

J. Sixma, K. Sakariassen, P. Bolhuis, 1979, Nature.

Riboflavin‐responsive lipid‐storage myopathy and glutaric aciduria type II of early adult onset

H. A. Veder, M. de Visser, P. Oey, 1986, Neurology.

Cerebrospinal Fluid Markers of Alzheimer's Disease

W. A. Gool, P. Bolhuis, 1991, Journal of the American Geriatrics Society.

Uptake of triiodothyronine into cultured human muscle cells.

N. Ponne, P. Bolhuis, J. D. de Jong, 1983, Acta endocrinologica.

Human Cytochrome c Oxidase Deficiencies; Structural and Functional Aspects

J. Berden, K. Sinjorgo, A. Muijsers, 1989 .

The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.

G. van Ommen, R. D. de Haan, P. Jongen, 1996, Brain : a journal of neurology.

UvA-DARE ( Digital Academic Repository ) Molecular biology and pharmacogenetics of x-linked adrenoleukodystrophy

Link, J. Mandel, P. Barth, 2012 .

analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

D. Mackey, N. Howell, C. Herrnstadt, 2017 .

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.

D. Mackey, N. Howell, C. Herrnstadt, 2003, American journal of human genetics.

analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

D. Mackey, N. Howell, C. Herrnstadt, 2003 .

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

F. Baas, L. Valentijn, M. Visser, 1992, Nature Genetics.

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

F. Baas, K. Schwartz, G. Bonne, 2000, Human molecular genetics.

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

D. Housman, F. Baas, V. Stanton, 1992, Nature Genetics.

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

F. Baas, C. Broeckhoven, J. Martín, 1991, Neuromuscular Disorders.

UvA-DARE ( Digital Academic Repository ) Collagen VI mutations in Bethlem myopathy

F. Baas, J. Boers, M. Visser, 2012 .

Regional localization of the gene for thyroid peroxidase to human chromosome 2pter----p12.

G. Vassart, F. Libert, J. de Vijlder, 1988, Cytogenetics and cell genetics.

Normal platelet aggregation in myotonic dystrophy

P. Bolhuis, B. Goldhoorn, J. D. Groot, 1982, Journal of the Neurological Sciences.

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

F. Gabreëls, F. Baas, H. Ropers, 1994, Annals of neurology.

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28

F. Baas, B. Hamel, P. Barth, 1994, Neuromuscular Disorders.

Effects of 2,5-hexanedione on calpain-mediated degradation of human neurofilaments in vitro.

F. A. de Wolff, P. Bolhuis, E. Heijink, 2000, Chemico-biological interactions.

Dispersity of human factor VIII--Von Willebrand factor.

J. V. van Mourik, P. Bolhuis, J. A. Mourik, 1978, Thrombosis research.

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot‐Marie‐Tooth disease) to markers of chromosomes 1 and 17

M. de Visser, B. W. Ongerboer de Visser, P. Bolhuis, 1990, Neurology.

Isolation and partial characterization of human factor V.

J. T. ten Cate, T. Hakvoort, P. Bolhuis, 1979, Biochimica et biophysica acta.

A novel X-linked gene, G4.5. is responsible for Barth syndrome

E. Maestrini, S. Bione, D. Toniolo, 1996, Nature Genetics.

De-novo mutation in hereditary motor and sensory neuropathy type I

F. Baas, C. Broeckhoven, L. Valentijn, 1992, The Lancet.

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B

F. Baas, L. Valentijn, S. Kemp, 1993, Nature Genetics.

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

F. Baas, P. Doorn, J. Wokke, 1998, Neuromuscular Disorders.

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

C. D. de Die-Smulders, S. Kemp, M. de Visser, 1997, Human Genetics.

Allelic heterogeneity in hereditary motor and sensory neuropathy type la (Charcot‐Marie‐Tooth disease type 1a)

F. Gabreëls, F. Baas, E. Joosten, 1993, Neurology.

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

G. Bruyn, B. V. van Oost, R. Hofstra, 1996, American journal of human genetics.

Two divergent types of nerve pathology in patients with different P sub 0 mutations in Charcot-Marie-Tooth disease

E. Mariman, C. van Broeckhoven, B. V. van Engelen, 1996, Neurology.

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

E. Haan, A. Green, S. Bione, 1997, American journal of human genetics.

Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a.

F. Baas, L. Valentijn, P. Bolhuis, 1993, Clinical chemistry.

The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region.

G. Pals, B. V. van Oost, M. Ligtenberg, 1995, American Journal of Human Genetics.

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

E. Mariman, F. Gabreëls, F. Baas, 1994, Human Genetics.

An unusual variant of Becker muscular dystrophy

G. van Ommen, M. de Visser, P. Bolhuis, 1990, Annals of neurology.

Differential diagnosis of genetic disease by DNA restriction fragment length polymorphisms.

P. Bolhuis, J. Defesche, H. J. van der Helm, 1987, Clinica chimica acta; international journal of clinical chemistry.

Autosomal dominant cerebellar ataxia with retinal degeneration ( ADCA II ) : clinical and neuropathological findings in two pedigrees and genetic linkage to 3 p 1 2p 2 1 . 1

F. Baas, D. Troost, J. J. van Hilten, 2003 .

Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase.

J. Taanman, N. Ponne, P. Bolhuis, 1989, Nucleic acids research.

Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and steady-state levels of coxVIb mRNA in different tissues.

N. Ponne, P. Bolhuis, H. de Vries, 1990, Gene.

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.

J. Gilbert, M. Pericak-Vance, J. Vance, 1996, Human molecular genetics.

Substitution in the 5 ′ UTR of the Wilson Disease Gene Is a Sequence Polymorphism in the Mediterranean Population

Marja, D. Mackey, T. Rosenberg, 1998 .

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

E. McNally, A. J. van der Kooi, M. de Visser, 1997, American journal of human genetics.

Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene.

P. Wesseling, W. V. van Gool, P. Bolhuis, 1995, Brain : a journal of neurology.

Steady-state transcript levels of cytochrome c oxidase genes during human myogenesis indicate subunit switching of subunit VIa and co-expression of subunit VIIa isoforms.

P. Bolhuis, H. de Vries, C. Van den Bogert, 1992, Biochimica et biophysica acta.

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

A. Moorman, C. Bönnemann, E. Bakker, 1997, Neuromuscular Disorders.

DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases

E. Bakker, J. D. Vijlder, M. Visser, 1989, Human Genetics.

A novel γ-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy

A. Essen, F. Jennekens, M. Visser, 1998, Neuromuscular Disorders.

Advances in Charcot–Marie–Tooth Disease Research: Cellular Function of CMT-Related Proteins, Transgenic Animal Models, and Pathomechanisms

C. Broeckhoven, K. Willecke, U. Suter, 1997, Neurobiology of Disease.

Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011

J. Loeber, J. Dankert-Roelse, M. Cornel, 2012, Journal of Inherited Metabolic Disease.

Cultured human muscle cells and respiratory chain deficiencies

P. Barth, P. Bolhuis, N. H. Herzberg, 1994, Neuromuscular Disorders.

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

F. Wijburg, E. Bleeker-Wagemakers, R. Oostra, 1994, Journal of Medical Genetics.

Inherited demyelinating peripheral neuropathies: relating myelin packing abnormalities to P0 molecular defects.

D. Kirschner, P. Bolhuis, K. Szumowski, 1996, Journal of neuroscience research.

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

B. V. van Oost, J. Mandel, M. Ligtenberg, 1994, Biochemical and biophysical research communications.

Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.

F. Baas, J. M. B. Vianney de Jong, N. Ponne, 1993, Biochimica et biophysica acta.

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

R. Wanders, J. Mandel, P. Barth, 1996, Journal of Inherited Metabolic Disease.

Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy.

E. Bleeker-Wagemakers, R. Oostra, P. Bolhuis, 1993, Ophthalmic paediatrics and genetics.

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

H. Tabak, A. Westerveld, M. V. van Schooneveld, 1990, Biochemical and biophysical research communications.

Respiratory chain function in Leber's hereditary optic neuropathy: Lack of correlation with clinical disease

R. Wanders, F. Wijburg, E. Bleeker-Wagemakers, 1993, Journal of Inherited Metabolic Disease.

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.

R. Zwart, R. Wanders, L. Nijtmans, 1995, Biochimica et biophysica acta.

Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid α-glucosidase

W. J. Visser, M. Kroos, P. Bolhuis, 1987, Journal of the Neurological Sciences.

Heterogeneity of human factor VIII. III. Transitions between forms of factor VIII present in cryoprecipitate and in cryosupernatant plasma.

J. Sixma, B. Bouma, P. Bolhuis, 1980, The Journal of laboratory and clinical medicine.

Physicochemical Characteristics of the Human Factor VIII-Von Willebrand Factor Oligomers

P. Bolhuis, A. Seinen, I. Mochtar, 1977, Thrombosis and Haemostasis.

Survival of iodine-125-labeled factor VIII in patients with von Willebrand's disease.

J. Sixma, B. Bouma, P. Bolhuis, 1981, The Journal of laboratory and clinical medicine.

Kearns‐Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy

R. Zwart, F. Cremers, M. S. van der Knaap, 1993, Neurology.

Concentrations of amyloid β protein in cerebrospinal fluid of patients with alzheimer's disease

E. Wolters, M. Kuiper, G. Walstra, 1995, Annals of neurology.

Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation

E. Bleeker-Wagemakers, R. Oostra, P. Bolhuis, 1994, Human Genetics.

Machado-Joseph disease presenting as severe asymmetric proximal neuropathy

M. Vermeulen, M. de Visser, P. Bolhuis, 1997, Journal of neurology, neurosurgery, and psychiatry.

Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome.

R. Wanders, R. Schutgens, P. Barth, 1987, Experimental Cell Research.

[The advisory report 'Neonatal screening' from the Health Council of The Netherlands].

P. Bolhuis, G. C. Page-Christiaens, 2005, Nederlands tijdschrift voor geneeskunde.

Evidence against increased oxidative stress in fibroblasts from patients with non-superoxide-dismutase-1 mutant familial amyotrophic lateral sclerosis

R. Wanders, P. Bolhuis, G. Jansen, 1996, Journal of the Neurological Sciences.

Identification of a two base pair deletion in five unrelated families with X-linked adrenoleukodystrophy: A possible hot spot for mutations

M. Ligtenberg, S. Kemp, P. Bolhuis, 2012 .

Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

R. Zwart, L. Nijtmans, E. Bleeker-Wagemakers, 1995, American journal of human genetics.

Metallothionein in Menkes' disease: Induction in cultured muscle cells

P. Barth, P. Bolhuis, R. Wolterman, 1990, Journal of the Neurological Sciences.

Muscle cell cultures in Menkes' disease: Copper accumulation in myotubes

K. Sinjorgo, P. Bolhuis, J. J. Kroon, 1990, Journal of Inherited Metabolic Disease.

Vitamin C Treatment in Menkes’ Disease: Failure to Affect Biochemical and Clinical Parameters

P. Barth, N. Abeling, F. Wijburg, 1989, Journal of Inherited Metabolic Disease.

analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

D. Mackey, N. Howell, C. Herrnstadt, 2017 .

Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation

E. Bleeker-Wagemakers, R. Oostra, P. Bolhuis, 1994, Human Genetics.

Reply to Hofmann et al.

D. Mackey, T. Rosenberg, N. Howell, 1998, American journal of human genetics.

Cultured human muscle cells from controls and a Zellweger patient: Study on peroxisomes and peroxisomal functions

R. Wanders, R. Schutgens, P. Barth, 1987, Journal of Inherited Metabolic Disease.

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

F. Baas, D. Barker, L. Valentijn, 1991, Human Genetics.

UvA-DARE ( Digital Academic Repository ) Molecular biology and pharmacogenetics of x-linked adrenoleukodystrophy

J. Mandel, P. Barth, S. Kemp, 2012 .

Platelet adhesion by Subendothelium-Bound Factor VIII-VWF:Kinetics and Molecular Weight Dependence

J. Sixma, K. Sakariassen, P. Bolhuis, 1979, Thrombosis and Haemostasis.