I. D. de Coo

发表

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

M. Lequin, D. Halley, M. D. de Wit, 2009, neurogenetics.

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families

C. Catsman-Berrevoets, F. Aarsen, M. Durán, 2005, American journal of medical genetics. Part A.

Quality of life in patients with leber hereditary optic neuropathy.

P. Chinnery, P. Yu-Wai-Man, G. Hudson, 2009, Investigative ophthalmology & visual science.

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

W. Arts, P. Heutink, B. Oostra, 2005, Journal of Medical Genetics.

Lung disease in FLNA mutation: confirmatory report.

H. Tiddens, M. D. de Wit, I. D. de Coo, 2011, European journal of medical genetics.

Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

R. Verdijk, J. Kros, M. D. de Wit, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Hereditary porencephaly: clinical and MRI findings in two Dutch families.

W. Arts, M. Lequin, I. D. de Coo, 2004, European journal of paediatric neurology.

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.

M. Lequin, G. Mancini, D. Halley, 2008, Archives of neurology.

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

C. Catsman-Berrevoets, M. S. van der Knaap, P. Barth, 1997, Annals of neurology.

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

F. Gabreëls, J. De Pont, J. Veerkamp, 1991, Clinical neuropathology.

Gene–environment interactions in Leber hereditary optic neuropathy

P. Chinnery, P. Yu-Wai-Man, M. Kirkman, 2009, Brain : a journal of neurology.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

E. Bertini, G. Vasco, C. Catsman-Berrevoets, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A

M. Lequin, A. Verkerk, P. J. van der Spek, 2010, Molecular Syndromology.

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

M. Durán, M. Lequin, F. Verheijen, 2006, Molecular genetics and metabolism.

A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

H. Smeets, R. Hintzen, W. Sluiter, 2007, Archives of neurology.

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes.

H. Smeets, P. Chinnery, J. Dumoulin, 2007, Molecular human reproduction.

Early-Onset LBSL: How Severe Does It Get?

I. Temple, G. Scheper, G. Uziel, 2012, Neuropediatrics.

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.

M. Lequin, G. Mancini, D. Halley, 2008, Archives of neurology.