@article{scoto2015novel,
 abstract = {Objective:To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene. Methods:Patients with a phenotype suggestive of a motor, non–length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and referred for targeted sequencing of DYNC1H1. Results:We report a cohort of 30 cases of SMA-LED from 16 families, carrying mutations in the tail and motor domains of DYNC1H1, including 10 no...},
 author = {MD Mariacristina Scoto and A. Rossor and MD Matthew B. Harms and MD PhD Sebahattin Cirak and MD Mattia Calissano and P. Robb and M. Manzur and M. Arroyo and M. Sanz and M. Mansour and Bmbs Penny Fallon and Mrcpch Irene Hadjikoumi Mbbs and Frcpch Andrea Klein Md and MD Michele Yang and M. D. Visser and Priya Md and Overweg-Plandsoen and P. Baas and Priya Md and PhD Michael Benatar and Priya Md and M. Al-Lozi and MR Nixon and M. D. Goede and Frcp Edin Reghan and M. C. Foley and M. Matthew and Matthew Pitt and Neuromuscular Division and PhD FRCPath Caroline Sewry and R. Phadke and MD PhD FRCPath Majid Hafezparast and W. Kling and M. Chong and MD Eugenio Mercuri and PhD Robert H. Baloh and Priya Md and MD Francesco Muntoni},
 doi = {10.1212/WNL.0000000000001269},
 journal = {Neurology},
 pages = {668–679},
 title = {Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy},
 volume = {84},
 year = {2015}
}