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Alessia Arnoldi

Laboratory of Molecular Biology

18

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583

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A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype

2015 Journal of Clinical Neuromuscular Disease
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Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

2015 Journal of Neurology
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Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

2014 Journal of Neurology
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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

2014 Journal of Neurology
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Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

2014 Clinical Neurology and Neurosurgery
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Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

2012 Clinical Genetics
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Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.

2012 European Journal of Neurology
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Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

2012 Clinical Genetics
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Clinico-Genetic Characterization of a Large Italian Cohort with Primary Spastic Paraplegia

2011
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Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

2009 Journal of Medical Genetics
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Citations (27)