Ann Löfgren

<i>POLG</i> mutations in neurodegenerative disorders with ataxia but no muscle involvement

G. Van Goethem, Petri Luoma, Maria Rantamäki et al. · Neurology · 2004 · 258 citations

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

G. Van Goethem, J.J. Martin, Bart Dermaut et al. · Neuromuscular Disorders · 2003 · 244 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +10

De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy

Lieve Claes, Berten Ceulemans, Dominique Audenaert et al. · Human Mutation · 2003 · 202 citations

Scn1a Mutations, Rare Diseases, Major Cause +15

A deletion in <i>SCN1B</i> is associated with febrile seizures and early-onset absence epilepsy

Dominique Audenaert, Laurence Claes, Berten Ceulemans et al. · Neurology · 2003 · 166 citations

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

Gert Van Goethem, Marianne Schwartz, Ann Löfgren et al. · European Journal of Human Genetics · 2003 · 160 citations · Full text

Ocular Disease, Ophthalmology, Mitochondrial Neurogastrointestinal Encephalomyopathy +10