Rethinking monogenic neurological diseases

LRRK2 in Parkinson disease: challenges of clinical trials

(2020) Eduardo Tolosa et al.   Nature Reviews Neurology

Glia-to-Neuron Conversion by CRISPR-CasRx Alleviates Symptoms of Neurological Disease in Mice

(2020) Haibo Zhou et al.   CELL

Base editing-mediated splicing correction therapy for spinal muscular atrophy

(2020) Xiang Lin et al.   CELL RESEARCH

Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease

(2019) Oliver Preische et al.   NATURE MEDICINE

Clinical application of next-generation sequencing to the practice of neurology

(2019) Jessica Rexach et al.   LANCET NEUROLOGY

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia

(2019) Xiang Lin et al.   BRAIN

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

(2019) Jinkuk Kim et al.   NEW ENGLAND JOURNAL OF MEDICINE

The global burden of neurological disorders: translating evidence into policy

(2019) Valery L Feigin et al.   LANCET NEUROLOGY

Neurofilament light: A candidate biomarker of pre-symptomatic ALS and phenoconversion

(2018) Michael Benatar et al.   ANNALS OF NEUROLOGY

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene therapy for neurological disorders: progress and prospects

(2018) Benjamin E. Deverman et al.   NATURE REVIEWS DRUG DISCOVERY

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

(2013) Andrea H. Németh et al.   BRAIN

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY