Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Aya Narita, Kentarou Shirai, Shinji Itamura, +24

Annals of Clinical and Translational Neurology

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

Muneaki Matsuo, Masami Togawa, Keiko Hirabaru, +6

Molecular Genetics and Metabolism

MedicineTranslational MedicinePharmacologyPathology

LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: New biomarkers for the detection of Niemann–Pick type C disease

Masamitsu Maekawa, Yasushi Misawa, Ayako Sotoura, +10

Steroids

Biomarker (Medicine)UrologyMolecular Diagnostic TechniquesMedicineBioanalysis +9

MECP2 duplication syndrome in both genders

Shino Shimada, Nobuhiko Okamoto, Masahiro Ito, +8

Brain and Development

InfertilityMendelian DisorderGenetic DisorderGeneticsMecp2 Duplication Syndrome +2

Acute encephalitis with refractory, repetitive partial seizures: Case reports of this unusual post-encephalitic epilepsy

Yoshiaki Saito, Yoshihiro Maegaki, Riina Okamoto, +6

Brain and Development

Repetitive Partial SeizuresNeurologyEncephalitisAcute EncephalitisMedicine +1

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including <i>PAX6</i>, <i>WT1</i>, and <i>PRRG4</i>

Toshiyuki Yamamoto, Masami Togawa, Shino Shimada, +3

American Journal of Medical Genetics Part A

Brain DevelopmentInterstitial DeletionsGeneticsPathologyResponsible Region +20

Early predictors of status epilepticus-associated mortality and morbidity in children

Yoshihiro Maegaki, Youichi Kurozawa, Akiko Tamasaki, +19

Brain and Development

Early PredictorsNeurologyPediatrics

De novo ATP1A3 variants cause polymicrogyria

Satoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, +46

Science Advances

Focused metabolomics using liquid chromatography/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann–Pick disease type C and 3β-hydroxysteroid dehydrogenase deficiency

Masamitsu Maekawa, Miki Shimada, Kousaku Ohno, +7

Annals of Clinical Biochemistry International Journal of Laboratory Medicine

Basal ganglia germinoma: Diagnostic value of MR spectroscopy and 11C-methionine positron emission tomography

Yuji Fujii, Yoshiaki Saito, Toshihide Ogawa, +8

Journal of the Neurological Sciences

Neuro-oncologyBasal Ganglia GerminomaMr SpectroscopyNeuroanatomyHistopathology +8