Publications

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A. Mol Genet Metab. 2017 Jul 20. pii: S1096-7192(17)30369-4. doi: 10.1016/j.ymgme.2017.07.006.
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X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. Neurogenetics. 2017 Aug 26. doi: 10.1007/s10048-017-0520-x.
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Recessive Mutations in NDUFA2 Cause Mitochondrial Leukoencephalopathy.

Perrier S, Gauquelin L, Tétreault M, Tran L, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium, Vanderver A, Bernard G. Clin Genet. 2017 Aug 30. doi: 10.1111/cge.13126.
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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A; Global Leukodystrophy Initiative (GLIA) Consortium. Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20. Review.
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X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

Curiel J, Steinberg SJ, Bright S, Snowden A, Moser AB, Eichler F, Dubbs HA, Hacia JG, Ely JJ, Bezner J, Gean A, Vanderver A. Mol Genet Metab. 2017 Sep 1. pii: S1096-7192(17)30481-X. doi: 10.1016/j.ymgme.2017.08.012.
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TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A. Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338.
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Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor

Tavasoli A, Armangue T, Ho CY, Whitehead M, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer R, van der Knaap MS, Bugiani M, Vanderver AL. Journal of Child Neurology 2017, Vol. 32(2) 184-18
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RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS; Care4Rare Canada Consortium., McFarland R, Vanderver AL. Pediatric Neurol. 2017 Jan;66:59-62. doi: 10.1016/j.pediatrneurol.2016.09.003. Epub 2016 Sep 13.
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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver AL, Waldman A, Livingston JH, Crow YJ. Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10
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4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver AL, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G, Wolf NI. Neuropediatrics. 2017 Jun;48(3):152-160. doi: 10.1055/s-0037-1599141. Epub 2017 Mar 1.
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Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects.

Helman G, Bonkowsky JL, Vanderver AL. JAMA Neurol. 2016 Jun 1;73(6):621-2.
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TUBB4A-Related Leukodystrophy.

Nahhas N, Conant A, Hamilton E, Curiel J, Simons C, van der Knaap M, Vanderver AL. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2016 Nov 3.
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Update on Leukodystrophies: A Historical Perspective and Adapted Definition.

Kevelam SH, Steenweg ME, Srivastava S, Helman G, Naidu S, Schiffmann R, Blaser S, Vanderver A, Wolf NI, van der Knaap MS. Neuropediatrics. 2016 Dec;47(6):349-354. Epub 2016 Aug 26. Review.
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Whole exome sequencing in patients with white matter abnormalities.

Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JL, McNeill N, Fogel BL; Leukodystrophy Study Group., Schiffmann R, van der Knaap MS, Taft RJ. Ann Neurol. 2016 Jun;79(6):1031-7. doi: 10.1002/ana.24650. Epub 2016 May 9.
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ACBD5 Deficiency causes a Defect in Peroxisomal Very Long-Chain Fatty Acid Metabolism

Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver AL, Waterham HR. J Med Genet. 2017 May;54(5):330-337. doi: 10.1136/jmedgenet-2016-104132. Epub 2016 Oct 31
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Mutations in SNORD118 cause the Cerebral Microangiopathy Leukoencephalopathy with Calcifications and Cysts

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver AL, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29.
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The Clinical, Biochemical and Genetic Features associated with RMND1-related Mitochondrial Disease.

Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver AL, Goldstein A, Vogt J, Taylor RW, McFarland R. J Med Genet. 2016 Jul 13. pii: jmedgenet-2016-103910. doi: 10.1136/jmedgenet-2016-103910.
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SCN8A Encephalopathy: Research Progress and Prospects.

Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver AL, Scheffer IE. Epilepsia. 2016 Jul;57(7):1027-35. doi: 10.1111/epi.13422. Epub 2016 Jun 8.
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Diffuse Hypomyelination is not Obligate for POLR3-related Disorders.

La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver AL, van der Knaap MS, Wolf NI, Bernard G. Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30.
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LYRM7 Mutations cause a Multifocal Cavitating Leukoencephalopathy with Distinct MRI Appearance.

Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver AL, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29.
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Targeted Leukodystrophy Diagnosis Based on Charges and Yields for Testing.

Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Am J Med Genet A. 2015 Nov;167A(11):2541-3. doi: 10.1002/ajmg.a.37215. Epub 2015 Jul 16.
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Emerging Treatments for Pediatric Leukodystrophies.

Helman G, Van Haren K, Escolar ML, Vanderver A. Pediatr Clin North Am. 2015 Jun;62(3):649-66. doi: 10.1016/j.pcl.2015.03.006. Epub 2015 Apr 8. Review.
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Disease-specific Therapies in Leukodystrophies and Leukoencephalopathies.

Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7.
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A Clinical Approach to the Diagnosis of Patients with Leukodystrophies and Genetic Leukoencephelopathies.

Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):501-15. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29. Review.
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Case Definition and Classification of Leukodystrophies and Leukoencephalopathies.

Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29. Review.
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Consensus Statement on Preventive and Symptomatic Care of Leukodystrophy Patients.

Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC; GLIA Consortium. Mol Genet Metab. 2015 Apr;114(4):516-26. doi: 10.1016/j.ymgme.2014.12.433. Epub 2014 Dec 27.
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DARS-associated Leukoencephalopathy can mimic a Steroid-responsive Neuroinflammatory Disorder.

Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A. Neurology. 2015 Jan 20;84(3):226-30. doi: 10.1212/WNL.0000000000001157. Epub 2014 Dec 19.
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Magnetic Resonance Imaging spectrum of Succinate Dehydrogenase-related Infantile Leukoencephalopathy.

Helman G, Caldovic L, Whitehead MT, Simons C, Brockmann K, Edvardson S, Bai R, Moroni I, Taylor JM, Van Haren K; SDH Study Group, Taft RJ, Vanderver AL, van der Knaap MS. Ann Neurol. 2016 Mar;79(3):379-86. doi: 10.1002/ana.24572. Epub 2016 Feb 12.
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ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.

Cuadrado E, Booiman T, van Hamme JL, Jansen MH, van Dort KA, Vanderver AL, Rice GI, Crow YJ, Kootstra NA, Kuijpers TW. PLoS One. 2015 Dec 2;10(12):e0143613. doi: 10.1371/journal.pone.0143613. eCollection 2015.
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CSF and Blood Levels of GFAP in Alexander Disease.

Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Köehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver AL, Eichler F, van der Knaap MS, Messing A. eNeuro. 2015 Oct 1;2(5). pii: ENEURO.0080-15.2015. doi: 10.1523/ENEURO.0080-15.2015. eCollection 2015 Sep.
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Neuroradiologic Patterns and Novel Imaging Findings in Aicardi-Goutières Syndrome.

La Piana R, Uggetti C, Roncarolo F, Vanderver AL, Olivieri I, Tonduti D, Helman G, Balottin U, Fazzi E, Crow YJ, Livingston J, Orcesi S. Neurology. 2016 Jan 5;86(1):28-35. doi: 10.1212/WNL.0000000000002228. Epub 2015 Nov 18.
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Recessive Mutations in POLR1C cause a Leukodystrophy by Impairing Biogenesis of RNA Polymerase III

Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver AL, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623.
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Ubiquitous L1 Mosaicism in Hippocampal Neurons

Upton KR, Gerhardt DJ, Jesuadian JS, Richardson SR, Sánchez-Luque FJ, Bodea GO, Ewing AD, Salvador-Palomeque C, van der Knaap MS, Brennan PM, Vanderver AL, Faulkner GJ. Cell. 2015 Apr 9;161(2):228-39. doi: 10.1016/j.cell.2015.03.026.
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Loss-of-Function Alanyl-tRNA Synthetase Mutations cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver AL. Am J Hum Genet. 2015 Apr 2;96(4):675-81. doi: 10.1016/j.ajhg.2015.02.012. Epub 2015 Mar 26.
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Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition

Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, La Piana R, Uggetti C, Wang J, Gordisch-Dressman H, van der Knaap MS, Livingston JH. J Child Neurol. 2015 Sep;30(10):1343-8. doi: 10.1177/0883073814562252. Epub 2014 Dec 22.
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Clinical Spectrum of 4H Leukodystrophy caused by POLR3A and POLR3B Mutations

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.
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Hypomyelinating Leukodystrophies: Translational Research Progress and Prospects

Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ. Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24.
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TUBB4A de novo Mutations Cause Isolated Hypomyelination.

Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A. Neurology. 2014 Sep 2;83(10):898-902. doi: 10.1212/WNL.0000000000000754. Epub 2014 Aug 1.
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Leukodystrophy Overview.

Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2014 Feb 6.

GJC2 Promoter Mutations causing Pelizaeus-Merzbacher-like Disease. Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto Y, Caldovic L, Hobson GM, Vanderver A. Mol Genet Metab. 2014 Mar;111(3):393-8. doi: 10.1016/j.ymgme.2013.12.001. Epub 2013 Dec 16.
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Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-related Leukodystrophies.

La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A. J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7.
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A de novo Mutation in the β-Tubulin Gene TUBB4A results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum.

Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013.03.018. Epub 2013 Apr 11.
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Elevation of Proinflammatory Cytokines in Patients with Aicardi-Goutières Syndrome.

Takanohashi A, Prust M, Wang J, Gordish-Dressman H, Bloom M, Rice GI, Schmidt JL, Crow YJ, Lebon P, Kuijpers TW, Nagaraju K, Vanderver A. Neurology. 2013 Mar 12;80(11):997-1002. doi: 10.1212/WNL.0b013e3182872694. Epub 2013 Feb 13.
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Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome.
Schmidt JL, Olivieri I, Vento JM, Fazzi E, Gordish-Dressman H, Orcesi S, Vanderver A.
Clin Dev Immunol. 2012; 2012:206730. doi: 10.1155/2012/206730. Epub 2012 Nov 11.
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Relative Incidence of Inherited White Matter Disorders in Childhood to Acquired Pediatric Demyelinating Disorders.
Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ.
Semin Pediatr Neurol. 2012 Dec;19(4):219-23. doi: 10.1016/j.spen.2012.10.001.
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Neurotransmitter Abnormalities and Response to Supplementation in SPG11.
Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C.
Mol Genet Metab. 2012 Sep;107(1-2):229-33. doi: 10.1016/j.ymgme.2012.05.020. Epub 2012 Jun 1.
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