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List of works by Alessandro Malandrini

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

scientific article published on 5 July 2007

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

scientific article

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

scientific article published on 16 March 2010

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

scientific article published on 01 May 2005

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

scientific article published on 4 February 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

scientific article published on 25 March 2016

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

scientific article published on 3 April 2018

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

article

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

scientific article published on 16 August 2019

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

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