E. de Graaff

发表

A double RING-H2 domain in RNF32, a gene expressed during sperm formation.

M. V. van Baren, P. Heutink, B. Oostra, 2002, Biochemical and biophysical research communications.

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.

B. Oostra, D. Goode, G. Elgar, 2003, Human molecular genetics.

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

B. Oostra, R. Willemsen, T. Zhao, 2011, PloS one.

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.

B. Oostra, A. Reuser, M. Kroos, 1991, Biochemical and biophysical research communications.

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

H. Venselaar, A. Bertoli-Avella, E. de Graaff, 2011, American journal of human genetics.

Alternative splicing in the fragile X gene FMR1.

E. Eichler, A. Poustka, D. Nelson, 1993, Human molecular genetics.

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

B. Oostra, J. Fryns, C. D. de Die-Smulders, 1994, Human molecular genetics.

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

C. Catsman-Berrevoets, J. Dudink, M. Lequin, 2009, American journal of human genetics.

Phosphotyrosine 1062 Is Critical for the In Vivo Activity of the Ret9 Receptor Tyrosine Kinase Isoform

V. D’Agati, F. Costantini, V. Pachnis, 2005, Molecular and Cellular Biology.

Responses of experimental rat tumours and a mouse colon tumour to flavone acetic acid.

H. Kal, E. de Graaff, A. V. van Berkel, 1992, In vivo.

Identification of delta/notch‐like epidermal growth factor‐related receptor as the Tr antigen in paraneoplastic cerebellar degeneration

C. Hoogenraad, M. J. van den Bent, Jeroen A. A. Demmers, 2012, Annals of neurology.

Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis

C. Hoogenraad, M. Fukuda, Max A. Schlager, 2010, The EMBO journal.

Genetics of radial deficiencies.

S. Kozin, E. de Graaff, 2009, The Journal of bone and joint surgery. American volume.

Pathologically confirmed autoimmune encephalitis in suspected Creutzfeldt-Jakob disease

C. V. van Duijn, P. S. Sillevis Smitt, A. Rozemuller, 2015, Neurology: Neuroimmunology & Neuroinflammation.

Clonal involvement of granulocytes and monocytes, but not of T and B lymphocytes and natural killer cells in patients with myelodysplasia: analysis by X-linked restriction fragment length polymorphisms and polymerase chain reaction of the phosphoglycerate kinase gene.

R. Willemze, W. Fibbe, E. de Graaff, 1992, Blood.

Standardized test for anti-Tr/DNER in patients with paraneoplastic cerebellar degeneration

J. Honnorat, P. S. Sillevis Smitt, R. Voltz, 2015, Neurology: Neuroimmunology & Neuroinflammation.

Detection and Characterization of Autoantibodies to Neuronal Cell-Surface Antigens in the Central Nervous System

C. Hoogenraad, P. S. Sillevis Smitt, E. de Graaff, 2016, Front. Mol. Neurosci..

Psychiatric phenomena as initial manifestation of encephalitis by anti‐NMDAR antibodies

C. Hoogenraad, P. S. Sillevis Smitt, R. Verdijk, 2013, Acta Neuropsychiatrica.

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

B. Oostra, A. Reuser, M. Kroos, 1993, The Biochemical journal.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

C. Hoogenraad, S. Mehta, H. Firth, 2016, Human molecular genetics.

Two mutations affecting the transport and maturation of lysosomal α‐glucosidase in an adult case of glycogen storage disease type II

B. Oostra, A. Reuser, M. Kroos, 1993, Human mutation.

Antibodies to TRIM46 are associated with paraneoplastic neurological syndromes

C. Hoogenraad, J. Démonet, J. Verschuuren, 2017, Annals of clinical and translational neurology.

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

W. Oyen, M. Horstink, B. Oostra, 2009, Neurology.

Molecular and cellular mechanisms underlying anti-neuronal antibody mediated disorders of the central nervous system.

C. Hoogenraad, P. S. Sillevis Smitt, E. Graaff, 2014, Autoimmunity reviews.

Liprin-α2 promotes the presynaptic recruitment and turnover of RIM1/CASK to facilitate synaptic transmission

C. Hoogenraad, Jeroen A. A. Demmers, R. Toonen, 2013, The Journal of cell biology.

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly

B. Oostra, J. Coert, A. de Klein, 2009, Chromosome Research.

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

B. Oostra, I. Kennerknecht, E. Graaff, 1997, American journal of human genetics.

Characterization of FMR1 proteins isolated from different tissues.

B. Oostra, H. Galjaard, R. Willemsen, 1995, Human molecular genetics.

KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation

J. Osinga, R. Hofstra, A. Dolga, 2010, Human molecular genetics.

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Carel Meijers, Dick Tibboel, Jan Osinga, 2005, American journal of human genetics.

Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis.

V. D’Agati, F. Costantini, S. Srinivas, 2001, Genes & development.

Anti-NMDAR Encephalitis in the Netherlands, Focusing on Late-Onset Patients and Antibody Test Accuracy

E. Martinez-Hernandez, E. de Graaff, Sabine Schuller, 2021, Neurology: Neuroimmunology & Neuroinflammation.

The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodies

C. Hoogenraad, Jeroen A. A. Demmers, J. Veldink, 2019, Brain : a journal of neurology.

The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1996, American journal of medical genetics.

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

W. Brown, B. Oostra, E. Graaff, 1995, American journal of human genetics.

A role for Bicaudal-D2 in radial cerebellar granule cell migration

C. Hoogenraad, C. D. De Zeeuw, C. D. Zeeuw, 2014, Nature Communications.

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

J. Belmont, K. Devriendt, Z. Rahimi, 2012, Circulation research.

FMR1 Premutation Allele (CGG)81 Is Stable in Mice

B. Oostra, R. Willemsen, E. de Graaff, 1997, European journal of human genetics : EJHG.

Organization and dynamics of the cortical complexes controlling insulin secretion in β-cells

C. Hoogenraad, F. Carlotti, E. D. de Koning, 2021, bioRxiv.

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.

B. D. de Vries, A. V. D. van den Ouweland, B. Oostra, 1994, American journal of medical genetics.

Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis.

V. Pachnis, D. Natarajan, E. de Graaff, 2002, Development.

C. Hoogenraad, P. S. Sillevis Smitt, E. de Graaff, 2015, Neurology: Neuroimmunology & Neuroinflammation.

Identification of Srp9 as a febrile seizure susceptibility gene

A. A. Kan, F. Holstege, C. Hoogenraad, 2014, Annals of clinical and translational neurology.

Differential expression of liprin‐α family proteins in the brain suggests functional diversification

C. Hoogenraad, D. Jaarsma, A. Akhmanova, 2011, The Journal of comparative neurology.

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

B. Oostra, L. Kozák, G. Fisch, 1994, American journal of medical genetics.

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

E. de Graaff, A. Hoogeboom, A.J.M. Hoogeboom, 2008, American journal of medical genetics. Part A.

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

B. Oostra, A. Reuser, M. Joosse, 1994, Human molecular genetics.

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

K. Davies, S. Knight, B. Oostra, 1994, American journal of human genetics.

Antibodies Associated With Autoimmune Encephalitis in Patients With Presumed Neurodegenerative Dementia

W. M. van der Flier, Y. Pijnenburg, J. V. van Swieten, 2023, Neurology(R) neuroimmunology & neuroinflammation.

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.

B. Oostra, A. Smits, E. Graaff, 1995, Human molecular genetics.

Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes

E. de Graaff, R. Galjaard, Jacob W. P. Potuijt, 2020, Journal of Medical Genetics.

The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II

B. Oostra, R. Willemsen, A. Reuser, 1994 .

Alternative splicing in the fragile X gene FMR1.

E. Eichler, A. Poustka, D. Nelson, 1993, Human molecular genetics.

Genetics of radial deficiencies.

S. Kozin, E. de Graaff, 2009, The Journal of bone and joint surgery. American volume.