List of works - Alessandra Tessa

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

scientific article published on 02 June 2008

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings

scientific article published on 3 June 2016

Acute optic neuropathy associated with a novel MFN2 mutation

scientific article published on 10 May 2015

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

scientific article published on 25 April 2020

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

scientific article published on 16 October 2017

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

scientific article published on 7 December 2013

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

scientific article published on 8 February 2018

Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.

scientific article published on 25 October 2013

Early-onset optic neuropathy as initial clinical presentation in SPG7.

scientific article published on 18 July 2014

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

scientific article published on 01 September 2014

Hereditary spastic paraplegia type 11 with a very late onset

scientific article published on 17 July 2015

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

scientific article published on 21 November 2015

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

scientific article published on 22 July 2016

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review

scientific article published on 09 October 2013

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

scientific article published on 22 October 2009

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

scientific article published on 15 April 2017

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

scientific article published on 4 February 2016

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

scientific article published on 18 February 2007

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

scientific article published on 25 February 2016

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

scientific article published on 8 May 2012

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization

scientific article published on 19 July 2017

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

scientific article (publication date: February 2004)

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

scientific article published on 27 January 2017

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

scientific article

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

scientific article published on 14 May 2019

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations