Autori: Bertini E

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Data

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up

Natural history of a cohort of ABCD1 variant female carriers

Longitudinal gait assessment in a stiff person syndrome

Plasma neurofilament light chain in pediatric hereditary spastic paraplegia

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen

Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study

Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data

The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability

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