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List of works by Tomonari Awaya

A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells

scientific article published on 18 October 2017

A boy with unilateral neck myoclonus of cortical origin independently on both sides.

scientific article published on 23 July 2014

A combination therapy of whole lung lavage and GM-CSF inhalation in pulmonary alveolar proteinosis

scientific article published on 01 August 2008

A granulocytosis associated with rufinamide: A case report.

scientific article published on 22 January 2015

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

scientific article

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

scientific article

An epigenetic biomarker for adult high-functioning autism spectrum disorder

scientific article published on 20 September 2019

Brain atrophy caused by vitamin B12-deficient anemia in an infant

scientific article

Chronic immune-mediated axonal polyneuropathy following umbilical cord blood transplant for childhood-onset cerebral adrenoleukodystrophy

scientific article published on 21 June 2012

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

scientific article published on 27 March 2015

Derivation of engraftable myogenic precursors from murine ES/iPS cells and generation of disease-specific iPS cells from patients with Duchenne muscular dystrophy (DMD) and other diseases

scientific article published on 01 November 2010

Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells.

scientific article

Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells

scientific article published on 24 February 2010

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

scientific article published on 17 September 2019

Head growth evaluation in early childhood, from the Japan Children's Study.

scientific article published on 13 November 2009

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.

scientific article

Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?

scientific article published on 14 April 2014

Inactivation of fibroblast growth factor binding protein 3 causes anxiety-related behaviors

scientific journal article

Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome

scientific article published on 18 April 2020

MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy.

scientific article

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

scientific article published on 31 July 2017

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

scientific article published on 20 May 2019

Paroxysmal gaze deviations as the sole manifestation of occipital lobe epilepsy

scientific article published on 17 July 2013

Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice.

scientific article published on 5 September 2017

Selective development of myogenic mesenchymal cells from human embryonic and induced pluripotent stem cells

scientific article

Successful autologous peripheral blood stem cell transplantation with a double-conditioning regimen for recurrent hepatoblastoma after liver transplantation.

scientific article published on 28 April 2008

Ttyh1, a Ca(2+)-binding protein localized to the endoplasmic reticulum, is required for early embryonic development

scientific journal article

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