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Items: 1 to 50 of 81

1.

PIEZO2 mediates injury-induced tactile pain in mice and humans.

Szczot M, Liljencrantz J, Ghitani N, Barik A, Lam R, Thompson JH, Bharucha-Goebel D, Saade D, Necaise A, Donkervoort S, Foley AR, Gordon T, Case L, Bushnell MC, Bönnemann CG, Chesler AT.

Sci Transl Med. 2018 Oct 10;10(462). pii: eaat9892. doi: 10.1126/scitranslmed.aat9892.

PMID:
30305456
2.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F.

Hum Mutat. 2018 Aug 31. doi: 10.1002/humu.23635. [Epub ahead of print]

PMID:
30168660
3.

Dramatic Improvement of a Rare Syndrome With High Dose Riboflavin Treatment.

Forman EB, Foley AR, King MD.

Pediatr Neurol. 2018 Jun 1. pii: S0887-8994(18)30166-8. doi: 10.1016/j.pediatrneurol.2018.05.005. [Epub ahead of print] No abstract available.

PMID:
30072240
4.

Extracellular matrix-driven congenital muscular dystrophies.

Mohassel P, Foley AR, Bönnemann CG.

Matrix Biol. 2018 Oct;71-72:188-204. doi: 10.1016/j.matbio.2018.06.005. Epub 2018 Jun 19. Review.

PMID:
29933045
5.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

6.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

PMID:
29691892
7.

Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family.

Bogdanova-Mihaylova P, Murphy RPJ, Alexander MD, McHugh JC, Foley AR, Brett F, Murphy SM.

Eur J Neurol. 2018 Feb;25(2):e22-e23. doi: 10.1111/ene.13532. No abstract available.

PMID:
29356258
8.

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Ortiz-González XR, Tintos-Hernández JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW, Crino PB, He M, Wallace DC, Bönnemann CG.

Ann Neurol. 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130.

PMID:
29283439
9.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E.

Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30.

PMID:
28818389
10.

Suppression of Oligomer Formation and Formation of Non-Toxic Fibrils upon Addition of Mirror-Image Aβ42 to the Natural l-Enantiomer.

Dutta S, Foley AR, Warner CJA, Zhang X, Rolandi M, Abrams B, Raskatov JA.

Angew Chem Int Ed Engl. 2017 Sep 11;56(38):11506-11510. doi: 10.1002/anie.201706279. Epub 2017 Jul 19.

11.

Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management.

Fraser KL, Wong S, Foley AR, Chhibber S, Bönnemann CG, Lesser DJ, Grosmann C, Rutkowski A.

ERJ Open Res. 2017 Jun 23;3(2). pii: 00049-2017. doi: 10.1183/23120541.00049-2017. eCollection 2017 Apr.

12.

HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.

Donkervoort S, Bharucha-Goebel D, Yun P, Hu Y, Mohassel P, Hoke A, Zein WM, Ezzo D, Atherton AM, Modrcin AC, Dasouki M, Foley AR, Bönnemann CG.

Neurol Genet. 2017 May 15;3(3):e151. doi: 10.1212/NXG.0000000000000151. eCollection 2017 Jun.

13.

A Tailored HPLC Purification Protocol That Yields High-purity Amyloid Beta 42 and Amyloid Beta 40 Peptides, Capable of Oligomer Formation.

Warner CJA, Dutta S, Foley AR, Raskatov JA.

J Vis Exp. 2017 Mar 27;(121). doi: 10.3791/55482.

PMID:
28448032
14.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

15.

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

Zou Y, Donkervoort S, Salo AM, Foley AR, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, Leikin S, Marini JC, Myllyharju J, Bönnemann CG.

Hum Mol Genet. 2017 Jun 15;26(12):2207-2217. doi: 10.1093/hmg/ddx110.

16.

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.

Donkervoort S, Chan SHS, Hayes LH, Bradley N, Nguyen D, Leach ME, Mohassel P, Hu Y, Thangarajh M, Bharucha-Goebel D, Kan A, Ho RSL, Reyes CA, Nance J, Moore SA, Foley AR, Bönnemann CG.

Neuromuscul Disord. 2017 Jun;27(6):531-536. doi: 10.1016/j.nmd.2017.02.012. Epub 2017 Mar 2.

17.

Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child.

Mohassel P, Foley AR, Donkervoort S, Fequiere PR, Pak K, Bönnemann CG, Mammen AL.

Muscle Nerve. 2017 Dec;56(6):1177-1181. doi: 10.1002/mus.25567. Epub 2017 Apr 25.

PMID:
28066895
18.

Using chiral peptide substitutions to probe the structure function relationship of a key residue of Aβ42.

Warner CJ, Dutta S, Foley AR, Chen E, Kliger DS, Raskatov JA.

Chirality. 2017 Jan;29(1):5-9. doi: 10.1002/chir.22667. Epub 2016 Dec 8.

PMID:
27933649
19.

The Role of PIEZO2 in Human Mechanosensation.

Chesler AT, Szczot M, Bharucha-Goebel D, Čeko M, Donkervoort S, Laubacher C, Hayes LH, Alter K, Zampieri C, Stanley C, Innes AM, Mah JK, Grosmann CM, Bradley N, Nguyen D, Foley AR, Le Pichon CE, Bönnemann CG.

N Engl J Med. 2016 Oct 6;375(14):1355-1364. Epub 2016 Sep 21.

20.

Introduction of d-Glutamate at a Critical Residue of Aβ42 Stabilizes a Prefibrillary Aggregate with Enhanced Toxicity.

Warner CJ, Dutta S, Foley AR, Raskatov JA.

Chemistry. 2016 Aug 16;22(34):11967-70. doi: 10.1002/chem.201601763. Epub 2016 Jun 30.

21.

Next-generation sequencing still needs our generation's clinicians.

Foley AR, Donkervoort S, Bönnemann CG.

Neurol Genet. 2015 Aug 13;1(2):e13. doi: 10.1212/NXG.0000000000000019. eCollection 2015 Aug.

22.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Krüger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm C, Marston SB, Bönnemann CG.

Ann Neurol. 2015 Dec;78(6):982-994. doi: 10.1002/ana.24535. Epub 2015 Nov 13.

23.

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient.

Greer K, Mizzi K, Rice E, Kuster L, Barrero RA, Bellgard MI, Lynch BJ, Foley AR, O Rathallaigh E, Wilton SD, Fletcher S.

Mol Genet Genomic Med. 2015 Jul;3(4):320-6. doi: 10.1002/mgg3.144. Epub 2015 Apr 15.

24.

Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy.

Moraitis E, Foley AR, Pilkington CA, Manzur AY, Quinlivan R, Jacques TS, Phadke R, Compeyrot-Lacassagne S.

J Rheumatol. 2015 Jun;42(6):1064-6. doi: 10.3899/jrheum.140554. Review. No abstract available.

PMID:
26034236
25.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F.

Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21.

26.

The use of mobile devices as assistive technology in resource-limited environments: access for learners with visual impairments in Kenya.

Foley AR, Masingila JO.

Disabil Rehabil Assist Technol. 2015 Jul;10(4):332-9. doi: 10.3109/17483107.2014.974220. Epub 2014 Oct 24.

PMID:
25342493
27.

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.

Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG.

Neuromuscul Disord. 2015 Jan;25(1):43-54. doi: 10.1016/j.nmd.2014.09.010. Epub 2014 Sep 28.

28.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG.

Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691.

29.

Observational study of spinal muscular atrophy type I and implications for clinical trials.

Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC.

Neurology. 2014 Aug 26;83(9):810-7. doi: 10.1212/WNL.0000000000000741. Epub 2014 Jul 30.

30.

Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.

Chan SH, Foley AR, Phadke R, Mathew AA, Pitt M, Sewry C, Muntoni F.

Neuromuscul Disord. 2014 Aug;24(8):677-83. doi: 10.1016/j.nmd.2014.05.008. Epub 2014 Jun 2.

PMID:
24957499
31.

Whole-genome sequencing and the clinician: a tale of two cities.

Foley AR, Pitceathly RD, He J, Kim J, Pearson NM, Muntoni F, Hanna MG.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1012-5. doi: 10.1136/jnnp-2013-306264. Epub 2014 Apr 4.

32.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium, Duchen MR, Muntoni F, Sheridan E.

Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15.

PMID:
24336167
33.

Natural history of pulmonary function in collagen VI-related myopathies.

Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG.

Brain. 2013 Dec;136(Pt 12):3625-33. doi: 10.1093/brain/awt284. Epub 2013 Nov 22.

34.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H.

Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19.

35.

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schafer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, Ferreiro A.

Hum Mol Genet. 2014 Feb 15;23(4):980-91. doi: 10.1093/hmg/ddt494. Epub 2013 Oct 8.

36.

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG; UK10K Consortium.

JAMA Neurol. 2013 Dec;70(12):1556-61. doi: 10.1001/jamaneurol.2013.3242.

PMID:
24100867
37.

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

Butterfield RJ, Foley AR, Dastgir J, Asman S, Dunn DM, Zou Y, Hu Y, Donkervoort S, Flanigan KM, Swoboda KJ, Winder TL, Weiss RB, Bönnemann CG.

Hum Mutat. 2013 Nov;34(11):1558-67. doi: 10.1002/humu.22429.

38.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.

39.

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG; UK10K Consortium.

Cell Rep. 2013 Jun 27;3(6):1795-805. doi: 10.1016/j.celrep.2013.05.005. Epub 2013 Jun 6. Erratum in: Cell Rep. 2013 Jul 25;4(2):402.

40.

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM.

Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9.

41.

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium, Stemple D, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28.

42.

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.

Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P; UK10K Consortium, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F.

Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3.

43.

Spontaneous keloid formation in patients with Bethlem myopathy.

Collins J, Foley AR, Straub V, Bönnemann CG.

Neurology. 2012 Nov 20;79(21):2158. doi: 10.1212/WNL.0b013e3182752ebc. No abstract available.

44.

Prospective cohort study of spinal muscular atrophy types 2 and 3.

Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O'Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery MJ, Marra J, Koo B, De Vivo DC; Muscle Study Group (MSG); Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR).

Neurology. 2012 Oct 30;79(18):1889-97. doi: 10.1212/WNL.0b013e318271f7e4. Epub 2012 Oct 17.

45.

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB.

Brain. 2012 Sep;135(Pt 9):2875-82. doi: 10.1093/brain/aws161. Epub 2012 Jun 26.

46.

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.

Pane M, Messina S, Vasco G, Foley AR, Morandi L, Pegoraro E, Mongini T, D'Amico A, Bianco F, Lombardo ME, Scalise R, Bruno C, Berardinelli A, Pini A, Moroni I, Mora M, Toscano A, Moggio M, Comi G, Santorelli FM, Bertini E, Muntoni F, Mercuri E.

Neuromuscul Disord. 2012 Aug;22(8):685-9. doi: 10.1016/j.nmd.2012.05.006. Epub 2012 Jun 22.

47.

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.

Emmanuele V, Sotiriou E, Rios PG, Ganesh J, Ichord R, Foley AR, Akman HO, Dimauro S.

J Child Neurol. 2013 Feb;28(2):236-42. doi: 10.1177/0883073812445787. Epub 2012 May 25.

48.

Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.

Kim J, Jimenez-Mallebrera C, Foley AR, Fernandez-Fuente M, Brown SC, Torelli S, Feng L, Sewry CA, Muntoni F.

Neuromuscul Disord. 2012 Feb;22(2):139-48. doi: 10.1016/j.nmd.2011.08.006. Epub 2011 Nov 8.

49.

Dystroglycanopathies: coming into focus.

Godfrey C, Foley AR, Clement E, Muntoni F.

Curr Opin Genet Dev. 2011 Jun;21(3):278-85. doi: 10.1016/j.gde.2011.02.001. Epub 2011 Mar 11. Review.

PMID:
21397493
50.

Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.

Kaufmann P, McDermott MP, Darras BT, Finkel R, Kang P, Oskoui M, Constantinescu A, Sproule DM, Foley AR, Yang M, Tawil R, Chung W, Martens B, Montes J, O'Hagen J, Dunaway S, Flickinger JM, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Irvine C, Annis CL, Butler H, Caracciolo J, Montgomery M, Marra J, Koo B, De Vivo DC; Muscle Study Group; Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy.

Arch Neurol. 2011 Jun;68(6):779-86. doi: 10.1001/archneurol.2010.373. Epub 2011 Feb 14.

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