2017 (v1)
Publication
No description
Uploaded on: February 14, 2024
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2019 (v1)Publication
Background Inherited peripheral neuropathies (IPNs) represent a broad group of genetically and clinically heterogeneous disorders, including axonal Charcot-Marie-Tooth type 2 (CMT2) and hereditary motor neuropathy (HMN). Approximately 60%–70% of cases with HMN/CMT2 still remain without a genetic diagnosis. Interestingly, mutations in HMN/CMT2...
Uploaded on: April 14, 2023 -
2012 (v1)Publication
No description
Uploaded on: October 11, 2023 -
2020 (v1)Publication
Objective: To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA). Methods: Inclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at...
Uploaded on: April 14, 2023