An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains

Kinya Ishikawa, Shuta Toru, Taiji Tsunemi, +24

The American Journal of Human Genetics

Neurodegenerative DiseasesNeurobiology Of DiseaseMendelian DisorderGenetic DisorderSpectrin Repeat +11

A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III

Kiyoshi Owada, Kinya Ishikawa, Shuta Toru, +9

Neurology

GeneticsGenetic EpidemiologySynaptic SignalingSocial SciencesClinical Genetics +15

Decreased membrane fluidity and unsaturated fatty acids in Niemann–Pick disease type C fibroblasts

Tomohiro Koike, Gen Ishida, Miyako Taniguchi, +6

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

FibrosisBiochemistryUnsaturated Fatty AcidsLipid NutritionPhysiology +4

Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann–Pick disease type C

Yasuhiro Watanabe, Shinjiro Akaboshi, Gen Ishida, +5

Brain and Development

Inherited Metabolic DiseaseHematologyHistopathologyExperimental PathologyPathology +6

Exteroceptive suppression of the masseter and temporalis muscles produced by electrical stimulation of the mental nerve in patients with Parkinson's disease

Kazutaka Nakashima, Kentaro Takahashi, T Azumi, +1

Acta Neurologica Scandinavica

Motor DysfunctionMotor ControlStimulation DeviceKinesiologyNeurology +18

Effect of a centrally-acting muscle relaxant, eperisone hydrochloride, on muscle sympathetic nerve activity in humans.

Satoshi Iwase, T Mano, Mitsuru Saito, +1

PubMed

Muscle FunctionHealthy SubjectsPharmacotherapyPeripheral Nervous SystemNeuromuscular Blockade +19

Skin nerve sympathetic activity reflex latency in Parkinson's disease

Gen Ishida, Kazutaka Nakashima, Kentaro Takahashi

Acta Neurologica Scandinavica

Reflex LatencyMotor ControlPeripheral NervePeripheral Nervous SystemKinesiology +14

Deafferentation-induced c-fos gene expression in subthalamic nucleus and substantia nigra reticulata is reduced by non-NMDA receptor antagonist

Makoto Saji, Mitsuhiro Kimura, Gen Ishida, +1

Brain Research

Non-nmda Receptor AntagonistMolecular PhysiologySignal TransductionSubstantia Nigra ReticulataMedicine +12

[Exteroceptive suppression after mental nerve stimulation in patients with chronic headache].

Kazutaka Nakashima, T Azumi, Gen Ishida, +1

PubMed

Pain DisordersNeuropsychologyMuscle Contraction HeadachePain MedicineNeuromodulation Therapies +19