Lucia Corrado

Expanding the phenotypic spectrum of SOD1‑related ALS: upper motor neuron predominance in a p.D91A case

Laura Tavaglione, Niccolò Madonia, Lucia Corrado, Cristoforo Comi et autres

Expanding the phenotypic spectrum of SOD1‑related ALS: upper motor neuron predominance in a p.D91A case

Laura Tavaglione, Niccolò Madonia, Lucia Corrado, Cristoforo Comi et autres

it (code pays fourni par la source)

Expanding the phenotypic spectrum of SOD1‑related ALS: upper motor neuron predominance in a p.D91A case

Laura Tavaglione, Niccolò Madonia, Lucia Corrado, Cristoforo Comi et autres

A multi-omics study on monozygotic twins discordant for amyotrophic lateral sclerosis and literature review underline a potential role for innate immunity and epigenetic dysregulation in disease mechanisms

Martina Tosi, Francesco Favero, Miriam Zuccalà, Endri Visha et autres

it, fr (code pays fourni par la source)

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome

Paola Quarello, Karim Karimi, Slavica Trajkova, Emanuela Garelli et autres

it, us, ca, jp (code pays fourni par la source)

Challenging the boundaries: c9orf72 mutation presenting as Alzheimer’s disease

Federico Garrou, Fabiola De Marchi, Lucia Corrado, Gian Mauro Sacchetti et autres

it (code pays fourni par la source)

Exploring the phenotypic fingerprints of ANXA11 variants in ALS: a population-based study in an European cohort

Francesca Palumbo, Cristina Moglia, Umberto Manera, Enrico Matteoni et autres

it (code pays fourni par la source)

A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis

Valentina Ciampana, Lucia Corrado, Luca Magistrelli, Elena Contaldi et autres

it (code pays fourni par la source)

Myoclonus‐Dystonia plus Syndrome in a Patient Carrying a Novel TCF20 Variant

Luca Magistrelli, Elena Contaldi, Sandra D’Alfonso, Lucia Corrado

it (code pays fourni par la source)

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Sara Sáez-Atiénzar, Cleide Dos Santos Souza, Ruth Chia, Selina N. Beal et autres

us, gb, it, nl, tr, fr, ie (code pays fourni par la source)

IntermediateHTTCAG repeats worsen disease severity in amyotrophic lateral sclerosis

Maurizio Grassano, Antonio Canosa, Sandra D'Alfonso, Lucia Corrado et autres

us, it (code pays fourni par la source)

Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations

Luca Magistrelli, Elena Contaldi, Beatrice Piola, Fjorilda Caushi et autres

it (code pays fourni par la source)