Lista de obras - Barbara Castellotti - Dominio Público Uruguay

A Loss-of-Function Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

artículo científico publicado en 2018

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2013

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

artículo científico publicado en 2018

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

artículo científico publicado en 2016

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation

artículo científico publicado en 2017

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

artículo científico publicado en 2013

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

artículo científico publicado en 2021

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2016

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

artículo científico publicado en 2008

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

article

Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

artículo científico publicado en 2008

Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia

artículo científico publicado en 2018

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

artículo científico publicado en 2012

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

artículo científico publicado en 2016

Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia

scientific article published on 01 December 1998

Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy.

artículo científico publicado en 1998

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report

artículo científico publicado en 2015

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes

artículo científico publicado en 1999

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

scientific article published on 01 October 2018

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

artículo científico publicado en 1996

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

artículo científico publicado en 2014

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

artículo científico publicado en 2005

Family and molecular data for a fine analysis of age at onset in Huntington disease.

artículo científico publicado en 2000

Granny trips down: is she carrying the big bad wolf? ⬇️

artículo científico publicado el 17 de mayo de 2012

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

artículo científico publicado en 2019

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

artículo científico publicado en 2018

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

artículo científico publicado en 2009

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

artículo científico publicado en 2014

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

scientific article published on 18 December 2007

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

scientific article published on 02 February 2010

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria

artículo científico publicado en 2016

Kennedy's disease: clinical and molecular study of two Italian families

scientific article published on 01 October 1995

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

artículo científico publicado en 2019

Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating.

artículo científico publicado en 2018

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

artículo científico publicado en 2015

Mapping of genes predisposing to idiopathic generalized epilepsy

scientific article published on 01 July 1995

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

artículo científico publicado en 2007

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

artículo científico publicado en 2010

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

article

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2011

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

artículo científico publicado en 2014

P-14Multiple acyl-coa dehydrogenase deficiency:a possibly treatable condition.

artículo científico publicado en 2011

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

artículo científico publicado en 2011

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

artículo científico publicado en 2000

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

scientific article published on 01 May 1997

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

artículo científico publicado en 2012

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation

scientific article published on 08 January 2019

Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review

artículo científico

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

artículo científico publicado en 2011

Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes

scientific article published on 20 March 2019

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

artículo científico publicado en 2012

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration

scientific article published on 09 November 2018

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

scientific article published on 01 May 2001

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

artículo científico publicado en 2015

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

artículo científico publicado en 2015

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

artículo científico

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2012

Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

artículo científico publicado en 1998

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

scientific article published on 01 October 1997

Lista de obras de Barbara Castellotti

A Loss-of-Function Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Clinical and genetic study of a family with spinocerebellar ataxia type 1 (SCA1) and beta-thalassemia

Clinical and molecular findings in the first identified Italian family with dentatorubral-pallidoluysian atrophy.

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

Family and molecular data for a fine analysis of age at onset in Huntington disease.

Granny trips down: is she carrying the big bad wolf? ⬇️

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria

Kennedy's disease: clinical and molecular study of two Italian families

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating.

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

Mapping of genes predisposing to idiopathic generalized epilepsy

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

P-14Multiple acyl-coa dehydrogenase deficiency:a possibly treatable condition.

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation

Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature review

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia

Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene