List of works - Francesca Moro

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

scientific article

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

scientific article published in June 2006

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

scientific article published in February 2014

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

scientific article published on 31 March 2011

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

scientific article

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

scientific article published on 01 April 2016

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

scientific article published on 26 November 2013

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

scientific article published on April 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.

scientific article published on 12 April 2016

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

scientific article published in July 2007

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

scientific article

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

scientific article published on February 2004

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

scientific article published on 2 May 2014

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

scientific article published on 13 November 2010

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

scientific article

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

scientific article published in July 2003

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

scientific article

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

scientific article published in October 2013

Periventricular heterotopia in fragile X syndrome

scientific article published in August 2006

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

scientific article published on 25 May 2017

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

scientific article published on August 2006

Study on aneuploidy and p53 mutations in astrocytomas.

scientific article published in June 1996

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

scientific article published on 5 May 2016

TRPV4 mutations in children with congenital distal spinal muscular atrophy

scientific article

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

scientific article published on 4 November 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

scientific article

p53 Expression in normal versus transformed mammalian cells ⬇️

scientific article published on October 1, 1995

List of works by 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 ⬇️