A. Canosa

Time-dependent adherence to non-invasive ventilation in amyotrophic lateral sclerosis: an observational cohort study.

BACKGROUND Non-invasive ventilation (NIV) improves survival and quality of life in amyotrophic lateral sclerosis (ALS). However, adherence is frequently suboptimal and longitudinal outpatient data are limited. OBJECTIVE We assessed NIV adherence during the first year of outpatient adaptation, factors associated with...

Theory of mind impairment related to C9orf72 repeat expansion in amyotrophic lateral sclerosis: a case-control study.

Objective: To investigate cognitive and affective theory of mind (ToM) in amyotrophic lateral sclerosis (ALS) patients carrying the C9orf72 repeat expansion (C9orf72+), compared with matched non-mutated (C9orf72-) ALS patients and healthy controls (HCs). Methods: We assessed 34 C9orf72+ ALS patients, 34 C9orf72- ALS pa...

ALS phenotype is influenced by age, sex, and genetics A population-based study

Establishment of two iPSC lines from ALS patients carrying mutations in SQSTM1 and TBK1 genes.

The generation and characterization of two induced pluripotent stem cell lines are described, one derived from an ALS patient carrying the heterozygous SQSTM1 c.1175C > T (p.Pro392Leu) mutation and another derived from a patient carrying the heterozygous TBK1 c.2402A > T (p.His801Leu) variant of unknown significance.

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants

The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.