Lista de obras - Paul Kasher - Dominio Público Uruguay

A Multi-Model Pipeline for Translational Intracerebral Haemorrhage Research

scientific article published on 07 July 2020

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

artículo científico publicado en 2012

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

artículo científico publicado en 2013

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

artículo científico publicado en 2014

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

artículo científico publicado en 2015

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

artículo científico publicado en 2010

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

scientific journal article

Downregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGFdelta/delta mouse model of amyotrophic lateral sclerosis

artículo científico publicado en 2010

Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

artículo científico publicado en 2017

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

artículo científico publicado en 2011

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

artículo científico publicado en 2014

Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS.

artículo científico publicado en 2007

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

artículo científico publicado en 2012

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

artículo científico publicado en 2014

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

artículo científico publicado en 2012

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

artículo científico publicado en 2016

Optimised and rapid pre-clinical screening in the SOD1(G93A) transgenic mouse model of amyotrophic lateral sclerosis (ALS).

artículo científico publicado en 2011

PReS-FINAL-2173: Protein kinase C delta deficiency is a new cause of monogenic SLE.

artículo científico publicado en 2013

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation

artículo científico publicado en 2013

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

artículo científico publicado en 2016

Tetrodotoxin block of A-fibre conduction and its effect on reflex responses evoked by electrical stimulation of the sural nerve in the decerebrated rabbit.

artículo científico publicado en 2003

Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS

artículo científico publicado en 2009

Using zebrafish larval models to study brain injury, locomotor and neuroinflammatory outcomes following intracerebral haemorrhage

artículo científico publicado en 2018

Lista de obras de Paul Kasher

A Multi-Model Pipeline for Translational Intracerebral Haemorrhage Research

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

Downregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGFdelta/delta mouse model of amyotrophic lateral sclerosis

Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Optimised and rapid pre-clinical screening in the SOD1(G93A) transgenic mouse model of amyotrophic lateral sclerosis (ALS).

PReS-FINAL-2173: Protein kinase C delta deficiency is a new cause of monogenic SLE.

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

Tetrodotoxin block of A-fibre conduction and its effect on reflex responses evoked by electrical stimulation of the sural nerve in the decerebrated rabbit.

Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS

Using zebrafish larval models to study brain injury, locomotor and neuroinflammatory outcomes following intracerebral haemorrhage