Amy Pasternak

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Jin‐Kuk Kim, Chunguang Hu, Christelle Moufawad El Achkar et al. · New England Journal of Medicine · 2019 · 772 citations · Full text

Genetic Diseases, Neurodegenerative Diseases, Miracle Foundation +13

Revised upper limb module for spinal muscular atrophy: Development of a new module

Elena Mazzone, Anna Mayhew, Jacqueline Montes et al. · Muscle & Nerve · 2016 · 342 citations

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

Eugenio Mercuri, Richard S. Finkel, Jacqueline Montes et al. · Neuromuscular Disorders · 2015 · 212 citations · Full text

Disease Progression, Clinical Epidemiology, Chronic Disease +9

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

Maria Carmela Pera, Giorgia Coratti, Nicola Forcina et al. · BMC Neurology · 2017 · 209 citations · Full text

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

Danielle Ramsey, Mariacristina Scoto, Anna Mayhew et al. · PLoS ONE · 2017 · 157 citations · Full text

Neurological Rehabilitation, Spinal Disorder, Orthopaedic Surgery +17