Search filters

List of works by Maria Teresa Bassi

"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

scientific article published on 31 October 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

scientific article from 2008

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

scientific article

A high resolution deletion map of human chromosome Xp22.

scientific article published on July 1993

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

scientific article

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy

scientific article published on 5 August 2013

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

scientific article published in July 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

scientific article published on 21 July 2008

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

scientific article published on 7 February 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

scientific article published on 29 October 2013

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

scientific article published on 16 May 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)

scientific article published on 01 April 1994

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

scientific article

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

scientific article published in May 2009

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

scientific article published on 11 November 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 25 July 2014

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

scientific article published in January 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.

scientific article

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

scientific article published on 7 January 2005

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

scientific article published on 5 December 2012

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

scientific article

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

scientific article published on 11 July 2009

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

scientific article published on 16 September 2008

Cholestenoic acids regulate motor neuron survival via liver X receptors

scientific article

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

scientific article

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

scientific article

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

scientific article published on 31 January 2011

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 11 September 2013

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

scientific article

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

scientific article (publication date: 2001)

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

scientific article

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

scientific article

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

scientific article published on 12 September 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

scientific article published on 22 January 2015

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

scientific article published on 17 February 2014

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

scientific article

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

scientific article published in 2000

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

scientific article published in April 2000

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

scientific article published on 3 July 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 05 July 2014

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

scientific article published on 29 May 2018

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

scientific article published on 14 May 2010

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

scientific article

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

scientific article published on 31 October 2013

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

scientific article

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

scientific article published in June 2004

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

scientific article published on 13 December 2011

Pleiotropic effects of spastin on neurite growth depending on expression levels

scientific article

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

scientific article

Relationship between migraine and epilepsy in pediatric age.

scientific article

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

scientific article published in December 2016

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

scientific article published on 2 December 2011

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

scientific article

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

scientific article

Syntaxin 4 is required for acid sphingomyelinase activity and apoptotic function

scientific article

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

scientific article published on 04 April 2019

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

scientific article published on 3 August 2010

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

scientific article

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

scientific article published on May 2015

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

scientific article

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

scientific article published in June 2008

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

scientific article

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

scientific article

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

scientific article

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

scientific article

X-linked situs abnormalities result from mutations in ZIC3

scientific article published on November 1, 1997

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

scientific article published on 26 November 2013