<i>GFAP</i> mutations, age at onset, and clinical subtypes in Alexander disease

Morgan J. Prust, Jiaxian Wang, Hiroki Morizono, +31

Neurology

De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

Kiyoshi Hayasaka, Masato Himoro, Yukio Sawaishi, +6

Nature Genetics

Hereditary MotorNeurobiology Of DiseaseDejerine–sottas DiseaseNeurological DisorderMedicine +12

De novo mutations of voltage-gated sodium channel α _II gene <i>SCN2A</i> in intractable epilepsies

Ikuo Ogiwara, Koichi Ito, Yukio Sawaishi, +10

Neurology

Polyalanine expansion of <i>ARX</i> associated with cryptogenic West syndrome

Mitsuhiro Kato, Soma Das, Kristin Petras, +2

Neurology

Age-specific Epilepsy SyndromeBrain DevelopmentImmunodeficienciesGeneticsWest Syndrome +22

Mutations of the <i>NOG</i> gene in individuals with proximal symphalangism and multiple synostosis syndrome

Tsutomu Takahashi, Ikuko Takahashi, Masaki Komatsu, +5

Clinical Genetics

Neurological DisorderGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +15

Hypocretin-1 (Orexin-A) Levels in Human Lumbar CSF in Different Age Groups: Infants to Elderly Persons

Takashi Kanbayashi, Tamami Yano, Hideaki Ishiguro, +7

SLEEP

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, +14

Journal of Human Genetics

Neurodegenerative DiseasesNars2 MutationsDegenerative DiseaseNeurologyNeuroscience +4

Cerebrospinal fluid levels of cytokines and soluble tumour necrosis factor receptor in acute disseminated encephalomyelitis

Takashi Ichiyama, Hiroshi Shoji, Mitsuhiro Kato, +4

European Journal of Pediatrics

InflammationAutoimmune DiseaseMedicineCerebrospinal FluidImmunology +9

Acute cerebellitis caused byCoxiella burnetii

Yukio Sawaishi, Ikuo Takahashi, Yasuhiro Hirayama, +4

Annals of Neurology

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease

Kazuki Kijima, Chikahiko Numakura, Emi Shirahata, +5

Journal of Human Genetics

Mendelian DisorderDisease MechanismGenetic DisorderGeneticsPathogenesis +3