Lista de obras - Francesca Moro - Dominio Público Uruguay

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation

artículo científico publicado en 2005

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

artículo científico publicado en 2006

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

artículo científico publicado en 2014

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

artículo científico publicado en 2011

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

artículo científico publicado en 2014

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

artículo científico publicado en 2016

Clinical, ultrastructural, and molecular studies in a patient with Kufs disease

artículo científico publicado en 2013

Derivative chromosome 17 in a case of Burkitt lymphoma with 8;14 translocation.

artículo científico publicado en 1999

Diagnostic methods and emerging treatments for adult neuronal ceroid lipofuscinoses (Kufs disease)

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.

artículo científico publicado en 2016

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations

artículo científico publicado en 2004

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

artículo científico publicado en 2014

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

artículo científico publicado en 2010

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

artículo científico publicado en 2013

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

artículo científico publicado en 2003

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

artículo científico publicado en 2014

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

artículo científico publicado en 2013

Periventricular heterotopia in fragile X syndrome

artículo científico publicado en 2006

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

artículo científico publicado en 2017

Stable formation of mutated p53 multimers in a Chinese hamster cell line causes defective p53 nuclear localization and abrogates its residual function.

artículo científico publicado en 2006

Study on aneuploidy and p53 mutations in astrocytomas

artículo científico publicado en 1996

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

artículo científico publicado en 2016

TRPV4 mutations in children with congenital distal spinal muscular atrophy

artículo científico publicado en 2012

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

artículo científico publicado en 2015

The beta and gamma subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively

artículo científico publicado en 1998

p53 Expression in normal versus transformed mammalian cells ⬇️

artículo científico publicado el 1 de octubre de 1995

Lista de obras de Francesca Moro

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

Clinical, ultrastructural, and molecular studies in a patient with Kufs disease

Derivative chromosome 17 in a case of Burkitt lymphoma with 8;14 translocation.

Diagnostic methods and emerging treatments for adult neuronal ceroid lipofuscinoses (Kufs disease)

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

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

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

Periventricular heterotopia in fragile X syndrome

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Stable formation of mutated p53 multimers in a Chinese hamster cell line causes defective p53 nuclear localization and abrogates its residual function.

Study on aneuploidy and p53 mutations in astrocytomas

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

TRPV4 mutations in children with congenital distal spinal muscular atrophy

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

The beta and gamma subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively

p53 Expression in normal versus transformed mammalian cells ⬇️