Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Petri Luoma, Atle Melberg, Juha O. Rinne, +9

The Lancet

Neurodegenerative DiseasesMolecular Genetic StudyGenetic DisorderParkinson DiseaseGenetics +10

CSF hypocretin/orexin levels in narcolepsy and other neurological conditions

Beth Ripley, Sebastiaan Overeem, Nobuhiro Fujiki, +12

Neurology

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Juliane Winkelmann, Ling Lin, Barbara Schormair, +14

Human Molecular Genetics

Systems BiologyMendelian DisorderGenetic DisorderExome SequencingGenetics +11

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

Atle Melberg, Anders Oldfors, Carina Blomström‐Lundqvist, +8

Annals of Neurology

Mitochondrial MyopathyCardiac MuscleCardiomyopathyHeart FailureElectron Microscopy +11

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new <i>CACNA1A</i> mutation

E. E. Kors, Atle Melberg, Kaate R. J. Vanmolkot, +8

Neurology

Neurological DisorderGeneticsSwedish FamilyEarly Onset AtaxiaEpilepsy +16

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Monica Ohlsson, Carola Hedberg, Björn Brådvik, +7

Brain

Mitochondrial MyopathyRare DiseasesEarly Respiratory FailureMendelian DisorderTitin Gene +12

Welander Distal Myopathy Caused by an Ancient Founder Mutation in<i>TIA1</i>Associated with Perturbed Splicing

Joakim Klar, Maria Sobol, Atle Melberg, +8

Human Mutation

Rare DiseasesMendelian DisorderGenetic DisorderNatural SciencesGenetics +13

<i>POLG1</i>Mutations Associated With Progressive Encephalopathy in Childhood

Gittan Kollberg, Ali‐Reza Moslemi, Niklas Darín, +7

Journal of Neuropathology & Experimental Neurology

Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy

Gittan Kollberg, M. Tulinius, Atle Melberg, +5

Brain

Rare DiseasesNew Iscu MutationMendelian DisorderBiochemistryGenetic Disorder +13

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

Ali‐Reza Moslemi, Anders Oldfors, Atle Melberg, +1

Annals of Neurology