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Items: 1 to 50 of 99

1.

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L, Nichols C, Hartnett E, Averion GM, Collins JC, Kim ES, Kokkinis A, Schindler A, Zukosky K, Fee R, Hinton V, Mohassel P, Bharucha-Goebel D, Vuillerot C, McGraw P, Barton M, Fontana J, Rutkowski A, Foley AR, Bönnemann CG.

Neurology. 2019 Nov 19;93(21):e1932-e1943. doi: 10.1212/WNL.0000000000008517. Epub 2019 Oct 25.

PMID:
31653707
2.

Genetic regulatory variation in populations informs transcriptome analysis in rare disease.

Mohammadi P, Castel SE, Cummings BB, Einson J, Sousa C, Hoffman P, Donkervoort S, Jiang Z, Mohassel P, Foley AR, Wheeler HE, Im HK, Bonnemann CG, MacArthur DG, Lappalainen T.

Science. 2019 Oct 18;366(6463):351-356. doi: 10.1126/science.aay0256. Epub 2019 Oct 10.

PMID:
31601707
3.

Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.

Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR.

Neurology. 2019 Oct 15;93(16):e1535-e1542. doi: 10.1212/WNL.0000000000008316. Epub 2019 Sep 20.

PMID:
31541013
4.

Inflation of 430-parsec bipolar radio bubbles in the Galactic Centre by an energetic event.

Heywood I, Camilo F, Cotton WD, Yusef-Zadeh F, Abbott TD, Adam RM, Aldera MA, Bauermeister EF, Booth RS, Botha AG, Botha DH, Brederode LRS, Brits ZB, Buchner SJ, Burger JP, Chalmers JM, Cheetham T, de Villiers D, Dikgale-Mahlakoana MA, du Toit LJ, Esterhuyse SWP, Fanaroff BL, Foley AR, Fourie DJ, Gamatham RRG, Goedhart S, Gounden S, Hlakola MJ, Hoek CJ, Hokwana A, Horn DM, Horrell JMG, Hugo B, Isaacson AR, Jonas JL, Jordaan JDBL, Joubert AF, Józsa GIG, Julie RPM, Kapp FB, Kenyon JS, Kotzé PPA, Kriel H, Kusel TW, Lehmensiek R, Liebenberg D, Loots A, Lord RT, Lunsky BM, Macfarlane PS, Magnus LG, Magozore CM, Mahgoub O, Main JPL, Malan JA, Malgas RD, Manley JR, Maree MDJ, Merry B, Millenaar R, Mnyandu N, Moeng IPT, Monama TE, Mphego MC, New WS, Ngcebetsha B, Oozeer N, Otto AJ, Passmoor SS, Patel AA, Peens-Hough A, Perkins SJ, Ratcliffe SM, Renil R, Rust A, Salie S, Schwardt LC, Serylak M, Siebrits R, Sirothia SK, Smirnov OM, Sofeya L, Swart PS, Tasse C, Taylor DT, Theron IP, Thorat K, Tiplady AJ, Tshongweni S, van Balla TJ, van der Byl A, van der Merwe C, van Dyk CL, Van Rooyen R, Van Tonder V, Van Wyk R, Wallace BH, Welz MG, Williams LP.

Nature. 2019 Sep;573(7773):235-237. doi: 10.1038/s41586-019-1532-5. Epub 2019 Sep 11.

PMID:
31511683
5.

Dominant collagen XII mutations cause a distal myopathy.

Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG.

Ann Clin Transl Neurol. 2019 Oct;6(10):1980-1988. doi: 10.1002/acn3.50882. Epub 2019 Sep 11.

6.

Utility of neuromuscular ultrasound for electromyographic needle localization within diseased muscle.

Ahmad OF, Saade D, Foley AR, Bönnemann C, Lehky T.

Muscle Nerve. 2019 Dec;60(6):E38-E40. doi: 10.1002/mus.26698. Epub 2019 Sep 30. No abstract available.

PMID:
31498902
7.

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.

Hu Y, Mohassel P, Donkervoort S, Yun P, Bolduc V, Ezzo D, Dastgir J, Marshall JL, Lek M, MacArthur DG, Foley AR, Bönnemann CG.

J Neuromuscul Dis. 2019;6(4):475-483. doi: 10.3233/JND-190414.

PMID:
31498126
8.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE.

Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29.

9.

Trapping and Characterization of Nontoxic Aβ42 Aggregation Intermediates.

Foley AR, Finn TS, Kung T, Hatami A, Lee HW, Jia M, Rolandi M, Raskatov JA.

ACS Chem Neurosci. 2019 Aug 21;10(8):3880-3887. doi: 10.1021/acschemneuro.9b00340. Epub 2019 Aug 1.

PMID:
31319029
10.

An ultrafast system for signaling mechanical pain in human skin.

Nagi SS, Marshall AG, Makdani A, Jarocka E, Liljencrantz J, Ridderström M, Shaikh S, O'Neill F, Saade D, Donkervoort S, Foley AR, Minde J, Trulsson M, Cole J, Bönnemann CG, Chesler AT, Bushnell MC, McGlone F, Olausson H.

Sci Adv. 2019 Jul 3;5(7):eaaw1297. doi: 10.1126/sciadv.aaw1297. eCollection 2019 Jul.

11.

MuscleViz: Free Open-Source Software for Muscle Weakness Visualization.

Wittenbach JD, Cocanougher BT, Yun P, Foley AR, Bönnemann CG.

J Neuromuscul Dis. 2019;6(2):263-266. doi: 10.3233/JND-190385.

PMID:
31127729
12.

The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.

Saade DN, Neuhaus SB, Foley AR, Bönnemann CG.

Semin Pediatr Neurol. 2019 Apr;29:44-54. doi: 10.1016/j.spen.2019.01.001. Epub 2019 Jan 16.

PMID:
31060725
13.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG.

JCI Insight. 2019 Mar 21;4(6). pii: 124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21.

14.

A DFT-Assisted Topological Analysis of Four Polymorphic, S-Shaped Aβ42 Fibril Structures.

Foley AR, Raskatov JA.

Chembiochem. 2019 Jul 1;20(13):1722-1724. doi: 10.1002/cbic.201900036. Epub 2019 May 21.

PMID:
30821034
15.

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J.

Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30.

PMID:
30701273
16.

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Mohassel P, Landon-Cardinal O, Foley AR, Donkervoort S, Pak KS, Wahl C, Shebert RT, Harper A, Fequiere P, Meriggioli M, Toro C, Drachman D, Allenbach Y, Benveniste O, Béhin A, Eymard B, Lafôret P, Stojkovic T, Mammen AL, Bönnemann CG.

Neurol Neuroimmunol Neuroinflamm. 2018 Dec 12;6(1):e523. doi: 10.1212/NXI.0000000000000523. eCollection 2019 Jan.

17.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network, Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J.

EMBO J. 2018 Dec 3;37(23). pii: e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.

18.

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Qualls AE, Donkervoort S, Herkert JC, D'gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB.

Muscle Nerve. 2019 Mar;59(3):357-362. doi: 10.1002/mus.26378. Epub 2018 Nov 28.

PMID:
30412272
19.

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.

20.

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 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.

PMID:
30168660
21.

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

Forman EB, Foley AR, King MD.

Pediatr Neurol. 2018 Sep;86:77-78. doi: 10.1016/j.pediatrneurol.2018.05.005. Epub 2018 Jun 1. No abstract available.

PMID:
30072240
22.

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
23.

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.

24.

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.

25.

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
26.

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.

27.

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
28.

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.

29.

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.

30.

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.

31.
32.

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.

33.

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.

34.

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.

35.

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
36.

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
37.

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.

38.

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.

39.

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.

40.

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.

41.

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.

42.

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
43.

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.

44.

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
45.

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.

46.

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.

47.

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.

48.

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
49.

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.

50.

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

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