Lista de obras - Takashi Shiihara - Dominio Público Uruguay

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

artículo científico publicado en 2009

A case of anti-GA1 antibody-positive Fisher syndrome with elevated tau protein in cerebrospinal fluid

artículo científico publicado en 2011

A case of mumps-related acute encephalopathy with biphasic seizures and late reduced diffusion

artículo científico publicado en 2017

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

artículo científico publicado en 2014

A patient with early onset Huntington disease and severe cerebellar atrophy

artículo científico publicado en 2009

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus ⬇️

artículo científico publicado el 27 de marzo de 2013

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.

artículo científico publicado en 2009

Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody

artículo científico publicado en 2006

Acute encephalopathy with refractory status epilepticus: bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage

artículo científico publicado en 2006

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome

artículo científico publicado en 2008

Another case of respiratory syncytial virus-related limbic encephalitis

artículo científico publicado en 2014

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

artículo científico publicado en 2004

Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases

artículo científico publicado en 2010

Correspondence: A further case of opsoclonus-myoclonus syndrome associated with Mycoplasma pneumoniae infection

artículo científico publicado en 2009

Costello syndrome showing moyamoya-like vasculopathy

artículo científico publicado en 2005

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy

artículo científico publicado en 2004

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

artículo científico publicado en 2007

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

artículo científico publicado en 2003

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.

artículo científico publicado en 2014

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome

artículo científico publicado en 2011

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings

artículo científico publicado en 2016

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

artículo científico publicado en 2005

Rotavirus associated acute encephalitis/encephalopathy and concurrent cerebellitis: report of two cases

artículo científico publicado en 2007

Serial MRI changes in a patient with infantile Alexander disease and prolonged survival

artículo científico publicado en 2010

Serum and CSF biomarkers in acute pediatric neurological disorders.

artículo científico publicado en 2013

Serum and cerebrospinal fluid S100B, neuron-specific enolase, and total tau protein in acute encephalopathy with biphasic seizures and late reduced diffusion: a diagnostic validity

artículo científico publicado en 2011

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients

artículo científico publicado en 2003

Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray

artículo científico publicado en 2010

Lista de obras de Takashi Shiihara

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

A case of anti-GA1 antibody-positive Fisher syndrome with elevated tau protein in cerebrospinal fluid

A case of mumps-related acute encephalopathy with biphasic seizures and late reduced diffusion

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

A patient with early onset Huntington disease and severe cerebellar atrophy

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus ⬇️

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.

Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody

Acute encephalopathy with refractory status epilepticus: bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome

Another case of respiratory syncytial virus-related limbic encephalitis

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases

Correspondence: A further case of opsoclonus-myoclonus syndrome associated with Mycoplasma pneumoniae infection

Costello syndrome showing moyamoya-like vasculopathy

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Rotavirus associated acute encephalitis/encephalopathy and concurrent cerebellitis: report of two cases

Serial MRI changes in a patient with infantile Alexander disease and prolonged survival

Serum and CSF biomarkers in acute pediatric neurological disorders.

Serum and cerebrospinal fluid S100B, neuron-specific enolase, and total tau protein in acute encephalopathy with biphasic seizures and late reduced diffusion: a diagnostic validity

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients

Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray