Alessandro Malandrini

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Luca Rampoldi, Carol Dobson‐Stone, Justin P. Rubio et al. · Nature Genetics · 2001 · 353 citations

Mitophagy, Pathogenesis, Autophagy +7

McLeod neuroacanthocytosis: Genotype and phenotype

Adrian Danek, Justin P. Rubio, Luca Rampoldi et al. · Annals of Neurology · 2001 · 241 citations

Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

Michael C. Kruer, Coro Paisán‐Ruíz, Nathalie Boddaert et al. · Annals of Neurology · 2010 · 231 citations · Full text

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie S. Tay, Peter Hackman et al. · The American Journal of Human Genetics · 2011 · 140 citations · Full text

Mechanobiology, Filamin C Cause, N-terminal Actin-binding Domain +7

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

Michael C. Kruer, M. Hiken, Allison Gregory et al. · Brain · 2011 · 122 citations · Full text