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

G. Van Goethem, Petri Luoma, Maria Rantamäki, +10

Neurology

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, +10

Neuromuscular Disorders

Ocular DiseaseMendelian DisorderOphthalmologyGenetic DisorderRecessive Polg Mutations +8

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

Lieve Claes, Berten Ceulemans, Dominique Audenaert, +11

Human Mutation

Scn1a MutationsRare DiseasesMajor CauseDevelopmental BiologyMendelian Disorder +13

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

Dominique Audenaert, Laurence Claes, Berten Ceulemans, +3

Neurology

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

Gert Van Goethem, Marianne Schwartz, Ann Löfgren, +3

European Journal of Human Genetics

Ocular DiseaseOphthalmologyMitochondrial Neurogastrointestinal EncephalomyopathyProgressive External OphthalmoplegiaOptic Neuropathy +8

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

Francesc Palau, Ann Löfgren, Peter De Jonghe, +7

Human Molecular Genetics

Spinocerebellar ataxia type 7 (SCA7) – correlations between phenotype and genotype in one large Belgian family

Jean‐Jacques Martin, Nicole Van Regemorter, Jurgen Del‐Favero, +2

Journal of the Neurological Sciences

Mendelian DisorderNeurological DisorderGenetic DisorderGeneticsNeurology +5

Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations

Eva Nelis, Sandra Simokovic, Vincent Timmerman, +5

Human Mutation

Connexin 32New MutationsGeneticsMolecular BiologyPathology +3

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths

Eva Nelis, Sevim Erdem‐Özdamar, Ann Löfgren, +5

Neuromuscular Disorders

Myelin SheathsMendelian DisorderMyotubularin-related Protein 2Genetic DisorderMedicine +8

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

Vincent Timmerman, Ann Löfgren, E. Le Guern, +8

Human Genetics

Hereditary NeuropathyPeripheral NervesMendelian DisorderGenetic DisorderMedicine +6