VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

Nivetha Ramachandran; Zhi-Ping Ren; Ichizo Nishino; Brigitte Chabrol; Jean-Francois Pellissier; Carlo Minetti; Bjarne Udd; Michel Fardeau; Chetankumar S Tailor; Don J Mahuran; John T Kissel; Iulia Munteanu; Hannu Kalimo; Nicholas Levy; Morris F Manolson; Cameron A Ackerley; A Minassian Berge; Wang Peixiang; Alessandra Ruggieri; Jennifer J Rilstone; Nyrie Israelian; Taline Naranian; Paul Paroutis; Ray Guo

doi:10.1007/s00401-012-1073-6

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

Nivetha Ramachandran
, Zhi-Ping Ren
, Ichizo Nishino
, Brigitte Chabrol
, Jean-Francois Pellissier
, Carlo Minetti
, Bjarne Udd
, Michel Fardeau
, Chetankumar S Tailor
, Don J Mahuran
, John T Kissel
, Iulia Munteanu
, Hannu Kalimo
, Nicholas Levy
, Morris F Manolson
, Cameron A Ackerley
, A Minassian Berge
, Wang Peixiang
, Alessandra Ruggieri
, Jennifer J Rilstone

Nyrie Israelian, Taline Naranian, Paul Paroutis, Ray Guo

Research output: Contribution to journal › Article › Scientific › peer-review

122 Citations (Scopus)

Original language	English
Pages (from-to)	439-457
Journal	ACTA NEUROPATHOLOGICA
Volume	125
Issue number	3
DOIs	https://doi.org/10.1007/s00401-012-1073-6
Publication status	Published - 2013
Publication type	A1 Journal article-refereed

Publication forum classification

Publication forum level 2

Access to Document

10.1007/s00401-012-1073-6

Cite this

Ramachandran, N., Ren, Z.-P., Nishino, I., Chabrol, B., Pellissier, J.-F., Minetti, C., Udd, B., Fardeau, M., Tailor, C. S., Mahuran, D. J., Kissel, J. T., Munteanu, I., Kalimo, H., Levy, N., Manolson, M. F., Ackerley, C. A., Minassian Berge, A., Peixiang, W., Ruggieri, A., ... Guo, R. (2013). VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. ACTA NEUROPATHOLOGICA, 125(3), 439-457. https://doi.org/10.1007/s00401-012-1073-6

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title = "VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy",

author = "Nivetha Ramachandran and Zhi-Ping Ren and Ichizo Nishino and Brigitte Chabrol and Jean-Francois Pellissier and Carlo Minetti and Bjarne Udd and Michel Fardeau and Tailor, \{Chetankumar S\} and Mahuran, \{Don J\} and Kissel, \{John T\} and Iulia Munteanu and Hannu Kalimo and Nicholas Levy and Manolson, \{Morris F\} and Ackerley, \{Cameron A\} and \{Minassian Berge\}, A and Wang Peixiang and Alessandra Ruggieri and Rilstone, \{Jennifer J\} and Nyrie Israelian and Taline Naranian and Paul Paroutis and Ray Guo",

year = "2013",

doi = "10.1007/s00401-012-1073-6",

language = "English",

volume = "125",

pages = "439--457",

journal = "ACTA NEUROPATHOLOGICA",

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Ramachandran, N, Ren, Z-P, Nishino, I, Chabrol, B, Pellissier, J-F, Minetti, C, Udd, B, Fardeau, M, Tailor, CS, Mahuran, DJ, Kissel, JT, Munteanu, I, Kalimo, H, Levy, N, Manolson, MF, Ackerley, CA, Minassian Berge, A, Peixiang, W, Ruggieri, A, Rilstone, JJ, Israelian, N, Naranian, T, Paroutis, P & Guo, R 2013, 'VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy', ACTA NEUROPATHOLOGICA, vol. 125, no. 3, pp. 439-457. https://doi.org/10.1007/s00401-012-1073-6

TY - JOUR

T1 - VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

AU - Ramachandran, Nivetha

AU - Ren, Zhi-Ping

AU - Nishino, Ichizo

AU - Chabrol, Brigitte

AU - Pellissier, Jean-Francois

AU - Minetti, Carlo

AU - Udd, Bjarne

AU - Fardeau, Michel

AU - Tailor, Chetankumar S

AU - Mahuran, Don J

AU - Kissel, John T

AU - Munteanu, Iulia

AU - Kalimo, Hannu

AU - Levy, Nicholas

AU - Manolson, Morris F

AU - Ackerley, Cameron A

AU - Minassian Berge, A

AU - Peixiang, Wang

AU - Ruggieri, Alessandra

AU - Rilstone, Jennifer J

AU - Israelian, Nyrie

AU - Naranian, Taline

AU - Paroutis, Paul

AU - Guo, Ray

PY - 2013

Y1 - 2013

U2 - 10.1007/s00401-012-1073-6

DO - 10.1007/s00401-012-1073-6

M3 - Article

SN - 0001-6322

VL - 125

SP - 439

EP - 457

JO - ACTA NEUROPATHOLOGICA

JF - ACTA NEUROPATHOLOGICA

IS - 3

ER -