Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome?

Nobuyoshi Fukuhara, S. Tokiguchi, K Shirakawa, +1

Journal of the Neurological Sciences

Mitochondrial MyopathyMitochondrial AbnormalitiesRagged-red FibresNeurological DisorderNeuroanatomy +10

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

Hidetoshi Date, Osamu Onodera, Hajime Tanaka, +18

Nature Genetics

New HitMendelian DisorderOphthalmologyGenetic DisorderGenetics +8

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

Takeshi Ikeuchi, Tomoya Asaka, Masaaki Saito, +10

Annals of Neurology

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein

Yasuteru Sano, Hidetoshi Date, Shuichi Igarashi, +9

Annals of Neurology

Human Cerebellar Activation in Relation to Saccadic Eye Movements: A Functional Magnetic Resonance Imaging Study

Yuuki Hayakawa, Takashi Nakajima, Mineo Takagi, +2

Ophthalmologica

Motor ControlOptic NerveNeurologyMotor NeuroscienceMotor Neurophysiology +22

Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases

Takehiro Yasukawa, Yohei Kirino, Norie Ishii, +7

FEBS Letters

GeneticsMolecular BiologyMolecular GeneticsWobble Modification DeficiencyMitochondrial Myopathy +14

An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain

Masahiko Kishi, Yoshinori Yamamura, Teruyuki Kurihara, +6

Journal of the Neurological Sciences

Mitochondrial FunctionNeurological DisorderNeuroanatomyElectron Microscopic StudiesMitochondrial Medicine +8

A novel mutation in the <i>GNE</i> gene and a linkage disequilibrium in Japanese pedigrees

Aki Arai, Keiko Tanaka, Takeshi Ikeuchi, +11

Annals of Neurology

Fabry's disease on the mechanism of the peripheral nerve involvement

Nobuyoshi Fukuhara, Masahiko Suzuki, Nagahisa Fujita, +1

Acta Neuropathologica

Peripheral NervesOphthalmologyPeripheral Nerve InjuryMedicineNeurology +4

Transient Recurrent Ventricular Fibrillation due to Hypopotassemia with Special Note on the U Wave

Kohji Tamura, Takashi Tamura, Shoji Yōshida, +2

Japanese Heart Journal

Electrophysiological EvaluationHeart FailureVentricular FibrillationCardiogenic ShockCardiovascular Disease +10