Suchergebnisse - "Bellone, Emilia"

PubPharm (5)

1

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers

enthalten in: Journal of the peripheral nervous system : JPNS | 2023

von Geroldi, A. | Tozza, S. | Fiorillo, C. | +21

2

Alternative Splicing in the Human PMP22 Gene : Implications in CMT1A Neuropathy

enthalten in: Human mutation | 2016

von Visigalli, D. | Castagnola, P. | Capodivento, G. | +6

3

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

enthalten in: Human mutation | 2016

von Capponi, S. | Geuens, T. | Geroldi, A. | +12

4

Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype

enthalten in: Neurocase | 2015

von Origone, P. | Accardo, J. | Verdiani, S. | +7

5

Enlarging the clinical spectrum associated with C9orf 72 repeat expansions : findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling

enthalten in: Amyotrophic lateral sclerosis & frontotemporal degeneration | 2013

von Origone, P. | Verdiani, S. | Ciotti, P. | +5

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