Search Results - Rachel Allison
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Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia by Rachel Allison, James R. Edgar, Guy Pearson, Tania Rizo, Timothy Mark Newton, Sven Günther, Fiamma Berner, Jennifer Hague, James W. Connell, Jürgen Winkler, Jennifer Lippincott‐Schwartz, Christian Beetz, Beate Winner, Evan Reid
Published 2017Artigo -
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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 by Gladys Montenegro, Adriana Rebelo, James W. Connell, Rachel Allison, Carla Babalini, M -A. D'Aloia, Pasqua Montieri, Rebecca Schüle, Hiroyuki Ishiura, Justin Price, Alleene V. Strickland, Michael Gonzalez, Lisa Baumbach‐Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M. Vance, Mark T. Rogers, Shoji Tsuji, Peter De Jonghe, Margaret A. Pericak‐Vance, Lüdger Schöls, Antonio Orlacchio, Evan Reid, Stephan Züchner
Published 2012Artigo -
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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment by Catherine Rodger, Elisabetta Flex, Rachel Allison, Alba Sanchis-Juan, Marcia A. Hasenahuer, Serena Cecchetti, Courtney E. French, James R. Edgar, Giovanna Carpentieri, Andrea Ciolfi, Francesca Pantaleoni, Alessandro Bruselles, Roberta Onesimo, Giuseppe Zampino, Francesca Marcon, Ester Siniscalchi, Melissa Lees, Deepa Krishnakumar, Emma McCann, Dragana Yosifova, Joanna Jarvis, Michael C. Kruer, Warren A. Marks, Jonathan J. Campbell, Louise Allen, Stefano Gustincich, F. Lucy Raymond, Marco Tartaglia, Evan Reid
Published 2020Artigo
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Biology
Cell biology
Gene
Biochemistry
Chemistry
ESCRT
Endosome
Hereditary spastic paraplegia
Intracellular
Phenotype
Cell
Genetics
Actin
Actin cytoskeleton
Actin-binding protein
Axon
Axon guidance
Cell cycle
Centrosome
Ciliogenesis
Cilium
Cytoskeleton
Endocytosis
Endoplasmic reticulum
Enzyme
Filopodia
Frameshift mutation
Growth cone
Lysosome
Messenger RNA