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Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
Free accessOnline Contents | 2021| -
Electrophysiological profile remodeling via selective suppression of voltage-gated currents by CLN1/PPT1 overexpression in human neuronal-like cells
Free accessBASE | 2020|Contributors: Santorelli, F. M. -
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
Free accessBASE | 2020|Contributors: Santorelli, F. M. -
Possible Involvement of the CACNA1E Gene in Migraine: A Search for Single Nucleotide Polymorphism in Different Clinical Phenotypes
British Library Online Contents | 2017| -
Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma Cells
British Library Online Contents | 2017| -
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5
British Library Online Contents | 2017| -
Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Online Contents | 2017| -
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families
British Library Online Contents | 2016| -
TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
British Library Online Contents | 2016| -
De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling
British Library Online Contents | 2015| -
Ataxia with oculomotor apraxia type 2: not always an easy diagnosis
British Library Online Contents | 2015| -
Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome
British Library Online Contents | 2015| -
Idiopathic pes cavus in adults is not associated with neurophysiological impairment in the lower limbs
British Library Online Contents | 2015| -
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay
Online Contents | 2015|
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