Lista de obras - Tomonari Awaya - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

A granulocytosis associated with rufinamide: A case report.

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

artículo científico publicado en 2014

An epigenetic biomarker for adult high-functioning autism spectrum disorder

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2020

MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy.

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

scientific journal article

Lista de obras de Tomonari Awaya

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

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

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

A granulocytosis associated with rufinamide: A case report.

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

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

An epigenetic biomarker for adult high-functioning autism spectrum disorder

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

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

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

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

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

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

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

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

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

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

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

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

MRI gadolinium enhancement precedes neuroradiological findings in acute necrotizing encephalopathy.

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

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

Paroxysmal gaze deviations as the sole manifestation of occipital lobe epilepsy

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

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

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

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