Nichole D. Hein

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Robert B. Hufnagel, Gavin Arno, Nichole D. Hein et al. · Journal of Medical Genetics · 2014 · 120 citations · Full text

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

Philip M. Boone, Bo Yuan, Ian M. Campbell et al. · The American Journal of Human Genetics · 2014 · 97 citations · Full text

Allelic Variant, Neurogenomics, Genetics +10

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in<i>C19orf12</i>

Guida Landouré, Peng-Peng Zhu, Charles Marques Lourenço et al. · Human Mutation · 2013 · 91 citations · Full text

Biology, Rare Diseases, Neurodegenerative Diseases +15

Kinetics and mechanism of inhibition of serine esterases by fluorinated aminophosphonates

Igor I. Baskin, Vladimir A. Palyulin, Nichole D. Hein et al. · Chemico-Biological Interactions · 2009 · 29 citations · Full text

Medicinal Chemistry, Fluorinated Aminophosphonates, Biochemistry +6

Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties

Nichole D. Hein, Jeanne A. Stuckey, Shirley Rainier et al. · Toxicology Letters · 2010 · 25 citations · Full text

Enzymatic Properties, Amyotrophic Lateral Sclerosis, Biochemistry +9