Lista de obras - Maria Teresa Bassi - Dominio Público Uruguay

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

scientific article published on 03 January 2019

A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation

artículo científico publicado en 2012

A Novel Mutation in Motor Domain of KIF5A Associated With an HSP/Axonal Neuropathy Phenotype

scientific article published on 01 March 2015

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

artículo científico publicado en 2008

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

artículo científico publicado en 2015

A high resolution deletion map of human chromosome Xp22.

artículo científico publicado en 1993

A new region of conservation is defined between human and mouse X chromosomes.

artículo científico publicado en 1996

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy

artículo científico publicado en 2013

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

artículo científico publicado en 2009

A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes

article

A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures

artículo científico publicado en 2008

A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease.

artículo científico publicado en 2014

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

article

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern

artículo científico publicado en 2013

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance

artículo científico publicado en 2012

A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents

article

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)

artículo científico publicado en 1994

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

artículo científico publicado en 2010

Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.

artículo científico publicado en 2009

Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype

artículo científico publicado en 2015

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients

artículo científico publicado en 2006

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine

scientific article published on 18 September 2007

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

artículo científico publicado en 1995

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation

artículo científico publicado en 2012

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

artículo científico publicado en 2014

Autophagy controls neonatal myogenesis by regulating the GH-IGF1 system through a NFE2L2- and DDIT3-mediated mechanism

artículo científico publicado en 2019

Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene

article

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

artículo científico publicado en 2014

Cellular expression and alternative splicing of SLC25A23, a member of the mitochondrial Ca2+-dependent solute carrier gene family.

artículo científico publicado en 2005

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

artículo científico publicado en 2012

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

artículo científico publicado en 1999

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

artículo científico publicado en 2009

Charcot-Marie-Tooth type 1a in a child with Long QT syndrome

artículo científico publicado en 2008

Cholestenoic acids regulate motor neuron survival via liver X receptors

artículo científico publicado en 2014

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

artículo científico publicado en 2016

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy

artículo científico publicado en 2009

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

artículo científico publicado en 2011

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region

artículo científico publicado en 1995

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

artículo científico publicado en 1995

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

artículo científico publicado en 2008

Cryptogenic Epileptic Syndromes Related to SCN1A

scientific article published on 01 April 2008

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

artículo científico publicado en 2013

Deficient nitric oxide signalling impairs skeletal muscle growth and performance: involvement of mitochondrial dysregulation

artículo científico publicado en 2014

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

artículo científico publicado en 2001

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene

artículo científico publicado en 2006

Endothelial nitric oxide synthase overexpression by neuronal cells in neurodegeneration: a link between inflammation and neuroprotection

artículo científico publicado en 2008

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

artículo científico publicado en 2017

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement

article

Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage

artículo científico publicado en 2015

Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

artículo científico publicado en 2014

Human hnRNP protein A1 gene expression. Structural and functional characterization of the promoter.

artículo científico publicado en 1993

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

artículo científico publicado en 2000

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.

artículo científico publicado en 2000

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

artículo científico publicado en 2014

Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes

article

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

artículo científico publicado en 2008

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

artículo científico publicado en 2013

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

artículo científico publicado en 2011

Mutations in α- and β-tubulin encoding genes: implications in brain malformations

artículo científico

Nitric Oxide Generated by Tumor-Associated Macrophages Is Responsible for Cancer Resistance to Cisplatin and Correlated With Syntaxin 4 and Acid Sphingomyelinase Inhibition.

artículo científico publicado en 2018

Nitric oxide inhibition of Drp1-mediated mitochondrial fission is critical for myogenic differentiation

artículo científico publicado en 2010

Nitric oxide sustains long-term skeletal muscle regeneration by regulating fate of satellite cells via signaling pathways requiring Vangl2 and cyclic GMP.

artículo científico publicado en 2012

Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents

artículo científico publicado en 2013

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

artículo científico publicado en 2010

Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

artículo científico publicado en 2004

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

artículo científico publicado en 2011

Pleiotropic effects of spastin on neurite growth depending on expression levels

artículo científico publicado en 2009

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

artículo científico publicado en 2009

Relationship between migraine and epilepsy in pediatric age.

artículo científico publicado en 2006

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

artículo científico publicado en 2016

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.

artículo científico publicado en 2011

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

artículo científico publicado en 2011

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

artículo científico publicado en 2000

Syntaxin 4 is required for acid sphingomyelinase activity and apoptotic function

artículo científico publicado en 2010

The Fine Tuning of Drp1-Dependent Mitochondrial Remodeling and Autophagy Controls Neuronal Differentiation

artículo científico publicado en 2019

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

artículo científico publicado en 2010

The amino acid transporter asc-1 is not involved in cystinuria

artículo científico publicado en 2004

The blurred scenario of motor neuron disorders linked toSpatacsinmutations: a case report

scientific article published on 01 October 2014

The emerging role of acid sphingomyelinase in autophagy

artículo científico

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

artículo científico publicado en 2006

The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation

artículo científico publicado en 2008

The low-affinity receptor for neurotrophins p75NTR plays a key role for satellite cell function in muscle repair acting via RhoA

artículo científico publicado en 2009

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

artículo científico publicado en 2017

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

artículo científico publicado en 2015

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

artículo científico publicado en 1999

X-linked situs abnormalities result from mutations in ZIC3 ⬇️

artículo científico publicado el 1 de noviembre de 1997

ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy

artículo científico publicado en 2013

Lista de obras de Maria Teresa Bassi

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation

A Novel Mutation in Motor Domain of KIF5A Associated With an HSP/Axonal Neuropathy Phenotype

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

A high resolution deletion map of human chromosome Xp22.

A new region of conservation is defined between human and mouse X chromosomes.

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes

A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures

A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease.

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance

A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.

Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

Autophagy controls neonatal myogenesis by regulating the GH-IGF1 system through a NFE2L2- and DDIT3-mediated mechanism

Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Cellular expression and alternative splicing of SLC25A23, a member of the mitochondrial Ca2+-dependent solute carrier gene family.

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

Charcot-Marie-Tooth type 1a in a child with Long QT syndrome

Cholestenoic acids regulate motor neuron survival via liver X receptors

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Cryptogenic Epileptic Syndromes Related to SCN1A

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

Deficient nitric oxide signalling impairs skeletal muscle growth and performance: involvement of mitochondrial dysregulation

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene

Endothelial nitric oxide synthase overexpression by neuronal cells in neurodegeneration: a link between inflammation and neuroprotection

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement

Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage

Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

Human hnRNP protein A1 gene expression. Structural and functional characterization of the promoter.

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders.

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

Mutations in α- and β-tubulin encoding genes: implications in brain malformations

Nitric Oxide Generated by Tumor-Associated Macrophages Is Responsible for Cancer Resistance to Cisplatin and Correlated With Syntaxin 4 and Acid Sphingomyelinase Inhibition.

Nitric oxide inhibition of Drp1-mediated mitochondrial fission is critical for myogenic differentiation

Nitric oxide sustains long-term skeletal muscle regeneration by regulating fate of satellite cells via signaling pathways requiring Vangl2 and cyclic GMP.

Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

Pleiotropic effects of spastin on neurite growth depending on expression levels

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

Relationship between migraine and epilepsy in pediatric age.

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

Syntaxin 4 is required for acid sphingomyelinase activity and apoptotic function

The Fine Tuning of Drp1-Dependent Mitochondrial Remodeling and Autophagy Controls Neuronal Differentiation

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

The amino acid transporter asc-1 is not involved in cystinuria

The blurred scenario of motor neuron disorders linked toSpatacsinmutations: a case report

The emerging role of acid sphingomyelinase in autophagy