C. Barzaghi

发表

Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.

B. Garavaglia, E. Rovelli, S. Levi, 2012, Human molecular genetics.

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

N. Nardocci, D. Ghezzi, B. Garavaglia, 2008, Movement disorders : official journal of the Movement Disorder Society.

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

Daniele Ghezzi, Barbara Garavaglia, A. Albanese, 2015, Front. Genet..

Isolated limb dystonia as presenting feature of Parkin disease

A. Albanese, L. Romito, B. Garavaglia, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Mutational analysis of COQ2 in patients with MSA in Italy

N. Bresolin, G. Comi, S. Corti, 2016, Neurobiology of Aging.

Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study

P. Stanzione, E. Valente, B. Dallapiccola, 2008, Movement disorders : official journal of the Movement Disorder Society.

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.

M. Zeviani, N. Nardocci, P. Pinton, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

G. Merla, L. Sangiorgi, M. Filocamo, 2016, Orphanet Journal of Rare Diseases.

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

R. Boldrini, R. Carrozzo, N. Nardocci, 2009, Biochemical and biophysical research communications.

MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up

A. Pini, B. Bernardi, A. Pini, 2011, The neuroradiology journal.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

L. Vissers, J. Hardy, C. Davies, 2016, American journal of human genetics.

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia

R. Cilia, M. Muzi-Falconi, B. Garavaglia, 2014, Neurology.

A neurophysiological study of myoclonus in patients with DYT11 myoclonus‐dystonia syndrome

A. Albanese, F. Panzica, S. Franceschetti, 2008, Movement disorders : official journal of the Movement Disorder Society.

Mutation screening of the DYT6/THAP1 gene in Italy

A. Bentivoglio, A. Albanese, F. Brancati, 2009, Movement disorders : official journal of the Movement Disorder Society.

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

L. Romito, B. Garavaglia, M. Carecchio, 2016, Parkinsonism & related disorders.

Adult‐Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype

R. Cantello, B. Garavaglia, C. Varrasi, 2015, Movement disorders clinical practice.