C. Montecchiani

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

Í. Lopes-Cendes, C. R. Martins, I. Faber, 2018, NeuroImage: Clinical.

Long‐Term miR‐669a Therapy Alleviates Chronic Dilated Cardiomyopathy in Dystrophic Mice

J. D’hooge, A. Orlacchio, C. Montecchiani, 2013, Journal of the American Heart Association.

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

C. Caltagirone, S. Saitoh, T. Kawarai, 2018, Parkinsonism & related disorders.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

P. S. St George-Hyslop, C. Caltagirone, T. Kawarai, 2015, Brain : a journal of neurology.

ALS 5 / SPG 11 / KIAA 1840 mutations cause autosomal recessive axonal Charcot – Marie – Tooth disease

C. Caltagirone, P. George-Hyslop, T. Kawarai, 2015 .

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

C. Caltagirone, T. Kawarai, C. Montecchiani, 2017, Journal of the Neurological Sciences.

Trans-crocetin improves amyloid-β degradation in monocytes from Alzheimer's Disease patients

C. Caltagirone, A. Orlacchio, T. Kawarai, 2017, Journal of the Neurological Sciences.

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.

C. Caltagirone, T. Kawarai, C. Montecchiani, 2018, Parkinsonism & related disorders.

SPG11‐related parkinsonism: Clinical profile, molecular imaging and l‐dopa response

Í. Lopes-Cendes, J. Friedman, C. R. Martins, 2018, Movement disorders : official journal of the Movement Disorder Society.