Concepedia

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Ralf A. Husain, Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot,

The American Journal of Human Genetics · 2020 · 54 citations · 16 references

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16

A subcellular map of the human proteome

Peter Thul, Lovisa Åkesson, Mikaela Wiking et al. · Science · 2017 · 3K citations

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Computational Method to Predict Mitochondrially Imported Proteins and their Targeting Sequences

M. Gonzalo Claros, Pierre Vincens · European Journal of Biochemistry · 1996 · 1.7K citations

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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

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MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

Sarah E. Calvo, Karl R. Clauser, Vamsi K. Mootha · Nucleic Acids Research · 2015 · 1.3K citations · Full text

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