Chiara Fiorillo Francesca Moro Julie Yi Sarah Weil Giacomo Brisca Guja Astrea Mariasavina Severino Alessandro Romano Roberta Battini Andrea Rossi Carlo Minetti Claudio Bruno Filippo M Santorelli Richard Vallee
10.1002/humu.22491
Hum Mutat
2014 Mar;35(3):298-302.
dync1h1 sma-led abnormal cortical development distal sma
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/24307404/
Charcot-Marie-Tooth Disease / genetics Cytoplasmic Dyneins / genetics Muscular Atrophy, Spinal / genetics Mutation, Missense
Charcot-Marie-Tooth Disease / genetics Cytoplasmic Dyneins / genetics Muscular Atrophy, Spinal / genetics Mutation, Missense Case Reports Research Support, N.I.H., Extramural Child Humans Male Phenotype Protein Conformation Young Adult DYNC1H1 protein, human Cytoplasmic Dyneins
PMC4109683
24307404
Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development
2014