Lista de obras - Ganeshwaran H Mochida - Dominio Público Uruguay

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

artículo científico publicado en 2010

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

artículo científico publicado en 2007

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

scientific journal article

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion

artículo científico publicado en 2004

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

artículo científico publicado en 2006

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

artículo científico publicado en 2012

Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis

artículo científico publicado en 2014

Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika

scientific article published on 23 March 2019

Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016

article

Cortical malformation and pediatric epilepsy: a molecular genetic approach

artículo científico publicado en 2005

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

artículo científico publicado en 2017

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

artículo científico publicado en 2013

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

artículo científico publicado en 2013

Developmental and degenerative features in a complicated spastic paraplegia.

artículo científico publicado en 2010

Genetic basis of developmental malformations of the cerebral cortex

artículo científico publicado en 2004

Genetics and biology of microcephaly and lissencephaly

artículo científico publicado en 2009

Holoprosencephaly in Kabuki syndrome

scientific article published on 17 December 2019

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

artículo científico publicado en 2011

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

artículo científico publicado en 2017

Katanin p80 regulates human cortical development by limiting centriole and cilia number

artículo científico publicado en 2014

Loss of PCLO function underlies pontocerebellar hypoplasia type III

artículo científico publicado en 2015

METTL23, a transcriptional partner of GABPA, is essential for human cognition

artículo científico publicado en 2014

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

artículo científico publicado en 2016

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

artículo científico publicado en 2015

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

artículo científico publicado en 2014

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

artículo científico publicado en 2010

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

artículo científico publicado en 2016

Neuropsychological function in a child with 18p deletion syndrome: a case report

artículo científico publicado en 2014

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

artículo científico publicado en 2015

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

scientific article published on 13 November 2018

Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients

artículo científico publicado en 2013

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

artículo científico publicado en 2020

Studying rare genetic disorders in child neurology--the need for an international network of collaboration

artículo científico publicado en 2014

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein

artículo científico publicado en 2005

Zika Virus: Learning from the Past as We Prepare for the Future

artículo científico publicado en 2020

Lista de obras de Ganeshwaran H Mochida

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Case records of the Massachusetts General Hospital. Case 27-2014. A 10-month-old boy with microcephaly and episodic cyanosis

Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika

Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016

Cortical malformation and pediatric epilepsy: a molecular genetic approach

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

Developmental and degenerative features in a complicated spastic paraplegia.

Genetic basis of developmental malformations of the cerebral cortex

Genetics and biology of microcephaly and lissencephaly

Holoprosencephaly in Kabuki syndrome

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Katanin p80 regulates human cortical development by limiting centriole and cilia number

Loss of PCLO function underlies pontocerebellar hypoplasia type III

METTL23, a transcriptional partner of GABPA, is essential for human cognition

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

Neuropsychological function in a child with 18p deletion syndrome: a case report

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Studying rare genetic disorders in child neurology--the need for an international network of collaboration

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein

Zika Virus: Learning from the Past as We Prepare for the Future