A. Arnoldi

发表

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

N. Bresolin, A. Martinuzzi, M. Filosto, 2014, Journal of Neurology.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

S. Züchner, C. Meisner, P. Bauer, 2017, Brain : a journal of neurology.

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis

E. Clementi, F. Santorelli, C. Vantaggiato, 2018, Autophagy.

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

N. Bresolin, A. Martinuzzi, A. Toscano, 2012, Clinical genetics.

The blurred scenario of motor neuron disorders linked to Spatacsin mutations: a case report

E. Pegoraro, A. Martinuzzi, G. Soraru', 2014, European journal of neurology.

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

N. Bresolin, F. Boaretto, A. Martinuzzi, 2009, Journal of Medical Genetics.

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

N. Bresolin, E. Scarpini, A. Trabacca, 2012, Clinical genetics.

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

N. Bresolin, R. Lodi, C. Tonon, 2014, Journal of Neurology.

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

A. Padovani, M. Filosto, M. Bassi, 2015, Journal of clinical neuromuscular disease.

Genetic features of antidepressant induced mania and hypo-mania in bipolar disorder

C. Cusin, A. Serretti, P. Artioli, 2004, Psychopharmacology.

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

N. Bresolin, G. Comi, G. Meola, 2008, Human mutation.

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

N. Bresolin, A. Martinuzzi, A. Toscano, 2015, Journal of Neurology.

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

Domenico Montanaro, Paolo Bonanni, Andrea Martinuzzi, 2016, PLoS ONE.

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

P. Avoni, R. Liguori, M. Bassi, 2014, Journal of Neurology.

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

N. Bresolin, G. Comi, A. Trabacca, 2006, Archives of neurology.

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

M. Mancuso, U. Bonuccelli, G. Siciliano, 2014, Clinical Neurology and Neurosurgery.

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

N. Bresolin, F. Arrigoni, A. Citterio, 2012, European journal of neurology.

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

N. Bresolin, D. Montanaro, V. Rizzo, 2016, PloS one.