Concepedia

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin, Rebecca Schüle, Katrien Smets, Agnès Rastetter, Amir Boukhris, José Leal Loureiro, Michael Gonzalez, Emeline Mundwiller, Tine Deconinck, Marc Wessner,

The American Journal of Human Genetics · 2013 · 171 citations · 34 references

Open access

Concepts

Life SciencesGeneticsNeurologyMolecular NeuroscienceMotor NeuroscienceNeurogeneticsHereditary NeuropathiesMotor Neuron DiseasesMotor Neuron DisordersMovement Disorder GeneticsHereditary Motor Neuron DiseaseHereditary Neurometabolic DisordersNeuromuscular Genetic Disorders

References

34

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

Life Sciences, Bioinformatics, Biology +12

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

A. E. Harding · The Lancet · 1983 · 961 citations

Life Sciences, Neurology, Neuroscience +12

“TENNIS THUMB”

MichaelC. Oldfield · The Lancet · 1951 · 345 citations