I. Coo

Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings

M. Knaap, P. Jansen, I. Coo, 1996, Journal of the Neurological Sciences.

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Melanie Bahlo, Bastiaan R Bloem, Luke C Gandolfo, 2011, American journal of human genetics.

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.

F. Gabreëls, P. Wesseling, H. T. ter Laak, 1996, Brain : a journal of neurology.

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

P. V. van Doorn, M. Hakkesteegt, A. T. van der Ploeg, 2011, Journal of Inherited Metabolic Disease.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

J. Gécz, B. Bloem, S. Berkovic, 2013, Brain : a journal of neurology.

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

H. Mandel, P. Chinnery, A. Gratwohl, 2015, Brain : a journal of neurology.

Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands.

R. Pangalila, N. Cobben, J. Fock, 2014, Journal of neuromuscular diseases.

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus

C. Julier, M. Lequin, M. Delepine, 2006, Neurogenetics.