Lista de obras - Stefania Battistini - Dominio Público Uruguay

A Human Kidney cDNA Which Induces a Cell Surface Protein Epitope Recognized by a Monoclonal Antibody against Galactosylceramide

scientific article published on 01 October 1996

A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS.

artículo científico publicado en 2010

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2009

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

artículo científico publicado en 2015

Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients

artículo científico publicado en 2004

C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease

artículo científico publicado en 2016

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

artículo científico publicado en 2012

CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology

article

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

artículo científico publicado en 2015

Cavernous malformation of the optic nerve mimicking optic neuritis

artículo científico publicado en 2010

Cherry-red spot myoclonus syndrome (type I sialidosis).

artículo científico publicado en 1991

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

artículo científico publicado en 2012

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation

artículo científico publicado en 2007

Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

artículo científico publicado en 2020

Corrigendum to “Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort” [GENE 568/2 (2015) 186–189]

article

D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings

artículo científico publicado en 2010

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia.

artículo científico publicado en 2014

Exome sequencing reveals VCP mutations as a cause of familial ALS

artículo científico publicado en 2010

FUS mutations in sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2010

G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype

artículo científico publicado en 2010

Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation

article

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

artículo científico

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

artículo científico publicado en 2018

Genotype-phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation

scientific article published on 07 June 2019

Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT5–8 Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC)

artículo científico publicado en 2013

Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients

artículo científico publicado en 2016

Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients

artículo científico publicado en 2017

Lack of association of PON polymorphisms with sporadic ALS in an Italian population

artículo científico publicado en 2010

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

artículo científico publicado en 1996

MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis

No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population

article

Potential Role of 11?-Hydroxysteroid Dehydrogenase in Human Trophoblast-Endometrial Interactions,b

artículo científico publicado en 1996

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

artículo científico publicado en 2011

Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test

artículo científico publicado en 2009

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

artículo científico publicado en 2012

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

artículo científico publicado en 2005

Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene

artículo científico publicado en 2010

Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry

artículo científico publicado en 1995

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

artículo científico publicado en 2009

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population

artículo científico publicado en 2007

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

artículo científico publicado en 2004

Lista de obras de Stefania Battistini

A Human Kidney cDNA Which Induces a Cell Surface Protein Epitope Recognized by a Monoclonal Antibody against Galactosylceramide

A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS.

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients

C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Cavernous malformation of the optic nerve mimicking optic neuritis

Cherry-red spot myoclonus syndrome (type I sialidosis).

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation

Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene

Corrigendum to “Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort” [GENE 568/2 (2015) 186–189]

D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia.

Exome sequencing reveals VCP mutations as a cause of familial ALS

FUS mutations in sporadic amyotrophic lateral sclerosis

G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype

Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Genotype-phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation

Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT5–8 Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC)

Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients

Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients

Lack of association of PON polymorphisms with sporadic ALS in an Italian population

Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene

MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis

No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population

Potential Role of 11?-Hydroxysteroid Dehydrogenase in Human Trophoblast-Endometrial Interactions,b

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

Regulation of redox forms of plasma thiols by albumin in multiple sclerosis after fasting and methionine loading test

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene

Substitution of Alanine543 with a Threonine Residue at the Carboxy Terminal End of the β-Chain Is Associated with Thermolabile Hexosaminidase B in a Jewish Family of Oriental Ancestry

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?