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Items: 1 to 50 of 172

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.

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.

Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK.

Neuron. 2018 Sep 5;99(5):905-913.e7. doi: 10.1016/j.neuron.2018.07.052. Epub 2018 Aug 23.

PMID:
30146301
4.

6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies.

Witherspoon JW, Vasavada RP, Waite MR, Shelton M, Chrismer IC, Wakim PG, Jain MS, Bönnemann CG, Meilleur KG.

Orphanet J Rare Dis. 2018 Jul 3;13(1):105. doi: 10.1186/s13023-018-0848-9.

5.

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
6.

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.

7.

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
8.

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, Meilleur KG.

Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018.

9.

The genetics of congenital myopathies.

Gonorazky HD, Bönnemann CG, Dowling JJ.

Handb Clin Neurol. 2018;148:549-564. doi: 10.1016/B978-0-444-64076-5.00036-3. Review.

PMID:
29478600
10.

Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge.

Bönnemann CG.

JAMA Neurol. 2018 May 1;75(5):539-540. doi: 10.1001/jamaneurol.2017.3068. No abstract available.

PMID:
29435554
11.

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
12.

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.

Butterfield RJ, Dunn DM, Hu Y, Johnson K, Bönnemann CG, Weiss RB.

PLoS One. 2017 Dec 15;12(12):e0189664. doi: 10.1371/journal.pone.0189664. eCollection 2017.

13.

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

Karakaya M, Mazaheri N, Polat I, Bharucha-Goebel D, Donkervoort S, Maroofian R, Shariati G, Hoelker I, Monaghan K, Winchester S, Zori R, Galehdari H, Bönnemann CG, Yis U, Wirth B.

Brain. 2017 Oct 1;140(10):e65. doi: 10.1093/brain/awx222. No abstract available.

PMID:
28969388
14.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
15.

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
16.

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

Schorling DC, Rost S, Lefeber DJ, Brady L, Müller CR, Korinthenberg R, Tarnopolsky M, Bönnemann CG, Rodenburg RJ, Bugiani M, Beytia M, Krüger M, van der Knaap M, Kirschner J.

Neurology. 2017 Aug 15;89(7):657-664. doi: 10.1212/WNL.0000000000004234. Epub 2017 Jul 21.

17.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC.

Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.

18.

Congenital Muscular Dystrophies and Myopathies: An Overview and Update.

Schorling DC, Kirschner J, Bönnemann CG.

Neuropediatrics. 2017 Aug;48(4):247-261. doi: 10.1055/s-0037-1604154. Epub 2017 Jul 2. Review. No abstract available.

PMID:
28669131
19.

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.

20.

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.

Schorling DC, Dietel T, Evers C, Hinderhofer K, Korinthenberg R, Ezzo D, Bönnemann CG, Kirschner J.

Neuropediatrics. 2017 Oct;48(5):371-377. doi: 10.1055/s-0037-1603977. Epub 2017 Jun 19. Review. No abstract available.

PMID:
28628939
21.

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M.

Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15.

22.

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.

23.

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.

24.

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.

25.

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.

26.

Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.

Nichols C, Jain MS, Meilleur KG, Wu T, Collins J, Waite MR, Dastgir J, Salman A, Donkervoort S, Duong T, Keller K, Leach ME, Lott DJ, McGuire MN, Nelson L, Rutkowski A, Vuillerot C, Bönnemann CG, Lehky TJ.

Muscle Nerve. 2018 Jan;57(1):54-60. doi: 10.1002/mus.25629. Epub 2017 Apr 25.

PMID:
28224647
27.

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016.

Hackman P, Udd B, Bönnemann CG, Ferreiro A; Titinopathy Database Consortium.

Neuromuscul Disord. 2017 Apr;27(4):396-407. doi: 10.1016/j.nmd.2017.01.009. Epub 2017 Jan 16. No abstract available.

PMID:
28214268
28.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J.

Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9.

29.

Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.

Bendixen RM, Butrum J, Jain MS, Parks R, Hodsdon B, Nichols C, Hsia M, Nelson L, Keller KC, McGuire M, Elliott JS, Linton MM, Arveson IC, Tounkara F, Vasavada R, Harnett E, Punjabi M, Donkervoort S, Dastgir J, Leach ME, Rutkowski A, Waite M, Collins J, Bönnemann CG, Meilleur KG.

Neuromuscul Disord. 2017 Mar;27(3):278-285. doi: 10.1016/j.nmd.2016.11.017. Epub 2016 Dec 5.

30.

Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin α2-related dystrophy.

Meilleur KG, Linton MM, Fontana J, Rutkowski A, Elliott J, Barton M, McGraw P, Kokkinis A, Donkervoort S, Leach M, Jain M, Dastgir J, Collins J, Szczesniak R, Yang K, Sawnani H, Bönnemann CG.

Pediatr Pulmonol. 2017 Apr;52(4):524-532. doi: 10.1002/ppul.23622. Epub 2017 Jan 13.

PMID:
28085238
31.

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
32.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.

Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.

PMID:
28012042
33.

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.

Heller F, Dabaj I, Mah JK, Bergounioux J, Essid A, Bönnemann CG, Rutkowski A, Bonne G, Quijano-Roy S, Wahbi K.

Cardiol Young. 2017 Aug;27(6):1076-1082. doi: 10.1017/S1047951116002079. Epub 2016 Dec 12.

PMID:
27938454
34.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PMID:
27854218
35.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST.

Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13.

36.

Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

Smith C, Parboosingh JS, Boycott KM, Bönnemann CG, Mah JK; Care4Rare Canada Consortium, Lamont RE, Micheil Innes A, Bernier FP.

Clin Genet. 2017 Mar;91(3):426-430. doi: 10.1111/cge.12876. Epub 2017 Jan 30.

PMID:
27684565
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.

Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3.

Colasanto MP, Eyal S, Mohassel P, Bamshad M, Bonnemann CG, Zelzer E, Moon AM, Kardon G.

Dis Model Mech. 2016 Nov 1;9(11):1257-1269. Epub 2016 Aug 4.

39.

Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.

Kahle KT, Flores B, Bharucha-Goebel D, Zhang J, Donkervoort S, Hegde M, Hussain G, Duran D, Liang B, Sun D, Bönnemann CG, Delpire E.

Sci Signal. 2016 Aug 2;9(439):ra77. doi: 10.1126/scisignal.aae0546.

40.

De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK.

J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7.

41.

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, JȨdrzejowska M.

Muscle Nerve. 2017 Feb;55(2):277-281. doi: 10.1002/mus.25232. Epub 2016 Nov 30.

42.

Mutation-specific effects on thin filament length in thin filament myopathy.

Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA.

Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30.

43.

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.

44.

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

Hotchkiss L, Donkervoort S, Leach ME, Mohassel P, Bharucha-Goebel DX, Bradley N, Nguyen D, Hu Y, Gurgel-Giannetti J, Bönnemann CG.

J Child Neurol. 2016 Aug;31(9):1114-9. doi: 10.1177/0883073816639718. Epub 2016 Mar 31.

45.

212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015.

Saunier M, Bönnemann CG, Durbeej M, Allamand V; CMD Animal Model Consortium.

Neuromuscul Disord. 2016 Mar;26(3):252-9. doi: 10.1016/j.nmd.2016.02.002. Epub 2016 Feb 15. No abstract available.

46.

Author response.

Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, Christi C, North K.

Neurology. 2015 Oct 20;85(16):1432-3. No abstract available.

PMID:
26771040
47.

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.

48.

Tyrosine 705 Phosphorylation of STAT3 Is Associated with Phenotype Severity in TGFβ1 Transgenic Mice.

Guadagnin E, Narola J, Bönnemann CG, Chen YW.

Biomed Res Int. 2015;2015:843743. doi: 10.1155/2015/843743. Epub 2015 Aug 24.

49.

Electrical impedance myography discriminates congenital muscular dystrophy from controls.

Schwartz DP, Dastgir J, Salman A, Lear B, Bönnemann CG, Lehky TJ.

Muscle Nerve. 2016 Mar;53(3):402-6. doi: 10.1002/mus.24770. Epub 2015 Aug 13.

PMID:
26179210
50.

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG.

JAMA Neurol. 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37. Erratum in: JAMA Neurol. 2015 Aug;72(8):950.

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