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Items: 1 to 50 of 253

1.

Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

Findlay AR, Harms MB, Pestronk A, Weihl CC.

Neuromuscul Disord. 2018 May 21. pii: S0960-8966(18)30002-6. doi: 10.1016/j.nmd.2018.05.006. [Epub ahead of print]

PMID:
29934118
2.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

J Neurol Neurosurg Psychiatry. 2018 May 7. pii: jnnp-2017-317488. doi: 10.1136/jnnp-2017-317488. [Epub ahead of print]

3.

Congenital titinopathy: Comprehensive characterisation 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 HB, 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 Apr 25. doi: 10.1002/ana.25241. [Epub ahead of print]

PMID:
29691892
4.

CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA).

Garcia-Santibanez R, Zaidman CM, Sommerville RB, Lopate G, Weihl CC, Pestronk A, Bucelli RC.

J Neurol. 2018 Jun;265(6):1402-1409. doi: 10.1007/s00415-018-8853-4. Epub 2018 Apr 9.

PMID:
29633012
5.

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.

Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V.

J Neurol Neurosurg Psychiatry. 2018 Jan 29. pii: jnnp-2017-317329. doi: 10.1136/jnnp-2017-317329. [Epub ahead of print] No abstract available.

6.

Immune myopathies with perimysial pathology: Clinical and laboratory features.

Bucelli RC, Pestronk A.

Neurol Neuroimmunol Neuroinflamm. 2018 Jan 17;5(2):e434. doi: 10.1212/NXI.0000000000000434. eCollection 2018 Mar.

7.

Clinical and Laboratory Profiles of Idiopathic Small Fiber Neuropathy in Children: Case Series.

Kafaie J, Al Balushi A, Kim M, Pestronk A.

J Clin Neuromuscul Dis. 2017 Sep;19(1):31-37. doi: 10.1097/CND.0000000000000178.

PMID:
28827487
8.

Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.

Argov Z, Bronstein F, Esposito A, Feinsod-Meiri Y, Florence JM, Fowler E, Greenberg MB, Malkus EC, Rebibo O, Siener CS, Caraco Y, Kolodny EH, Lau HA, Pestronk A, Shieh P, Skrinar AM, Mayhew JE.

J Clin Neuromuscul Dis. 2017 Sep;19(1):19-26. doi: 10.1097/CND.0000000000000181.

9.

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R.

Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17.

PMID:
28726266
10.

Cystinosis distal myopathy, novel clinical, pathological and genetic features.

Cabrera-Serrano M, Junckerstorff RC, Alisheri A, Pestronk A, Laing NG, Weihl CC, Lamont PJ.

Neuromuscul Disord. 2017 Sep;27(9):873-878. doi: 10.1016/j.nmd.2017.05.010. Epub 2017 May 15.

PMID:
28629674
11.

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.

Argov Z, Caraco Y, Lau H, Pestronk A, Shieh PB, Skrinar A, Koutsoukos T, Ahmed R, Martinisi J, Kakkis E.

J Neuromuscul Dis. 2016 Mar 3;3(1):49-66.

12.

Sarcopenia, age, atrophy, and myopathy: Mitochondrial oxidative enzyme activities.

Pestronk A, Keeling R, Choksi R.

Muscle Nerve. 2017 Jul;56(1):122-128. doi: 10.1002/mus.25442. Epub 2017 Feb 8.

PMID:
27759889
13.

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium.

Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug.

14.

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy.

Griggs RC, Miller JP, Greenberg CR, Fehlings DL, Pestronk A, Mendell JR, Moxley RT 3rd, King W, Kissel JT, Cwik V, Vanasse M, Florence JM, Pandya S, Dubow JS, Meyer JM.

Neurology. 2016 Nov 15;87(20):2123-2131. Epub 2016 Aug 26.

15.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL.

Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.

16.

Defining SOD1 ALS natural history to guide therapeutic clinical trial design.

Bali T, Self W, Liu J, Siddique T, Wang LH, Bird TD, Ratti E, Atassi N, Boylan KB, Glass JD, Maragakis NJ, Caress JB, McCluskey LF, Appel SH, Wymer JP, Gibson S, Zinman L, Mozaffar T, Callaghan B, McVey AL, Jockel-Balsarotti J, Allred P, Fisher ER, Lopate G, Pestronk A, Cudkowicz ME, Miller TM.

J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):99-105. doi: 10.1136/jnnp-2016-313521. Epub 2016 Jun 3.

17.

A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression.

Weiss MD, Macklin EA, Simmons Z, Knox AS, Greenblatt DJ, Atassi N, Graves M, Parziale N, Salameh JS, Quinn C, Brown RH Jr, Distad JB, Trivedi J, Shefner JM, Barohn RJ, Pestronk A, Swenson A, Cudkowicz ME; Mexiletine ALS Study Group.

Neurology. 2016 Apr 19;86(16):1474-81. doi: 10.1212/WNL.0000000000002507. Epub 2016 Feb 24.

18.

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC; Muscle Study Group.

Neurology. 2016 Apr 12;86(15):1408-16. doi: 10.1212/WNL.0000000000002416. Epub 2016 Feb 10.

19.

Bicaudate infarcts in the setting of congenital absence of A1 segment.

Tahsili-Fahadan P, Yahyavi-Firouz-Abadi N, Keyrouz SG, Pestronk A.

Neurol Clin Pract. 2015 Dec;5(6):540-541. No abstract available.

20.

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA.

Ann Neurol. 2016 Mar;79(3):419-27. doi: 10.1002/ana.24575. Epub 2016 Jan 13.

21.

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evilä A, Hackman P, Udd B, Harms MB, Weihl CC.

Neurology. 2015 Aug 25;85(8):665-74. doi: 10.1212/WNL.0000000000001864. Epub 2015 Jul 24.

22.

Nerve ultrasound identifies abnormalities in the posterior interosseous nerve in patients with proximal radial neuropathies.

Dietz AR, Bucelli RC, Pestronk A, Zaidman CM.

Muscle Nerve. 2016 Mar;53(3):379-83. doi: 10.1002/mus.24778. Epub 2015 Dec 29.

23.

Myopathy with anti-HMGCR antibodies: Perimysium and myofiber pathology.

Alshehri A, Choksi R, Bucelli R, Pestronk A.

Neurol Neuroimmunol Neuroinflamm. 2015 Jun 4;2(4):e124. doi: 10.1212/NXI.0000000000000124. eCollection 2015 Aug.

24.

Myelinated and unmyelinated endoneurial axon quantitation and clinical correlation.

Dori A, Lopate G, Choksi R, Pestronk A.

Muscle Nerve. 2016 Feb;53(2):198-204. doi: 10.1002/mus.24740. Epub 2015 Aug 8.

PMID:
26080797
25.

Dystrophinopathy mimicking metabolic myopathies.

Liewluck T, Tian X, Wong LJ, Pestronk A.

Neuromuscul Disord. 2015 Aug;25(8):653-7. doi: 10.1016/j.nmd.2015.04.001. Epub 2015 Apr 11.

PMID:
25998609
26.

Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity.

Schweitzer GG, Collier SL, Chen Z, Eaton JM, Connolly AM, Bucelli RC, Pestronk A, Harris TE, Finck BN.

JIMD Rep. 2015;23:113-22. doi: 10.1007/8904_2015_440. Epub 2015 May 13.

27.

Seropositivity for NT5c1A antibody in sporadic inclusion body myositis predicts more severe motor, bulbar and respiratory involvement.

Goyal NA, Cash TM, Alam U, Enam S, Tierney P, Araujo N, Mozaffar FH, Pestronk A, Mozaffar T.

J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):373-8. doi: 10.1136/jnnp-2014-310008. Epub 2015 Apr 9.

PMID:
25857661
28.

A genome-wide association study of myasthenia gravis.

Renton AE, Pliner HA, Provenzano C, Evoli A, Ricciardi R, Nalls MA, Marangi G, Abramzon Y, Arepalli S, Chong S, Hernandez DG, Johnson JO, Bartoccioni E, Scuderi F, Maestri M, Gibbs JR, Errichiello E, Chiò A, Restagno G, Sabatelli M, Macek M, Scholz SW, Corse A, Chaudhry V, Benatar M, Barohn RJ, McVey A, Pasnoor M, Dimachkie MM, Rowin J, Kissel J, Freimer M, Kaminski HJ, Sanders DB, Lipscomb B, Massey JM, Chopra M, Howard JF Jr, Koopman WJ, Nicolle MW, Pascuzzi RM, Pestronk A, Wulf C, Florence J, Blackmore D, Soloway A, Siddiqi Z, Muppidi S, Wolfe G, Richman D, Mezei MM, Jiwa T, Oger J, Drachman DB, Traynor BJ.

JAMA Neurol. 2015 Apr;72(4):396-404. doi: 10.1001/jamaneurol.2014.4103.

29.

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Weihl CC, Baloh RH, Lee Y, Chou TF, Pittman SK, Lopate G, Allred P, Jockel-Balsarotti J, Pestronk A, Harms MB.

Neuromuscul Disord. 2015 Apr;25(4):289-96. doi: 10.1016/j.nmd.2014.12.009. Epub 2015 Jan 6.

30.

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, Nicolas A, Le Rumeur E, Weiss RB, Flanigan KM; United Dystrophinopathy Project.

Ann Neurol. 2015 Apr;77(4):668-74. doi: 10.1002/ana.24365. Epub 2015 Mar 2.

31.

Autophagic vacuolar pathology in desminopathies.

Weihl CC, Iyadurai S, Baloh RH, Pittman SK, Schmidt RE, Lopate G, Pestronk A, Harms MB.

Neuromuscul Disord. 2015 Mar;25(3):199-206. doi: 10.1016/j.nmd.2014.12.002. Epub 2014 Dec 12.

32.

A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa.

Thurberg BL, Carlier P, Kissel JT, Schoser B, Pestronk A, Barohn RJ, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Young P, Shafi R, Bjartmar C, van der Ploeg A.

J Neuromuscul Dis. 2015;2(s1):S72-S73. No abstract available.

PMID:
27858658
33.

Regional ischemic immune myopathy: a paraneoplastic dermatomyopathy.

Cai C, Alshehri A, Choksi R, Pestronk A.

J Neuropathol Exp Neurol. 2014 Dec;73(12):1126-33. doi: 10.1097/NEN.0000000000000132.

PMID:
25383636
34.

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Cady J, Allred P, Bali T, Pestronk A, Goate A, Miller TM, Mitra RD, Ravits J, Harms MB, Baloh RH.

Ann Neurol. 2015 Jan;77(1):100-13. doi: 10.1002/ana.24306. Epub 2014 Nov 27.

35.

Myovascular innervation: axon loss in small-fiber neuropathies.

Dori A, Lopate G, Keeling R, Pestronk A.

Muscle Nerve. 2015 Apr;51(4):514-21. doi: 10.1002/mus.24356. Epub 2015 Feb 24.

PMID:
25091433
36.

Systemic pharmacokinetics and cerebrospinal fluid uptake of intravenous ceftriaxone in patients with amyotrophic lateral sclerosis.

Zhao Y, Cudkowicz ME, Shefner JM, Krivickas L, David WS, Vriesendorp F, Pestronk A, Caress JB, Katz J, Simpson E, Rosenfeld J, Pascuzzi R, Glass J, Rezania K, Harmatz JS, Schoenfeld D, Greenblatt DJ.

J Clin Pharmacol. 2014 Oct;54(10):1180-7. doi: 10.1002/jcph.317. Epub 2014 May 16. Erratum in: J Clin Pharmacol. 2014 Nov;54(11):1320.

37.

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ.

Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30.

38.
39.

TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.

Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB.

JAMA Neurol. 2014 Apr;71(4):449-53. doi: 10.1001/jamaneurol.2013.6237.

40.

Ultrasound of inherited vs. acquired demyelinating polyneuropathies.

Zaidman CM, Harms MB, Pestronk A.

J Neurol. 2013 Dec;260(12):3115-21. doi: 10.1007/s00415-013-7123-8. Epub 2013 Oct 8.

41.

Cramps and small-fiber neuropathy.

Lopate G, Streif E, Harms M, Weihl C, Pestronk A.

Muscle Nerve. 2013 Aug;48(2):252-5. doi: 10.1002/mus.23757. Epub 2013 Jun 28.

PMID:
23813593
42.

Design and initial results of a multi-phase randomized trial of ceftriaxone in amyotrophic lateral sclerosis.

Berry JD, Shefner JM, Conwit R, Schoenfeld D, Keroack M, Felsenstein D, Krivickas L, David WS, Vriesendorp F, Pestronk A, Caress JB, Katz J, Simpson E, Rosenfeld J, Pascuzzi R, Glass J, Rezania K, Rothstein JD, Greenblatt DJ, Cudkowicz ME; Northeast ALS Consortium.

PLoS One. 2013 Apr 17;8(4):e61177. doi: 10.1371/journal.pone.0061177. Print 2013.

43.

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.

Harms MB, Cady J, Zaidman C, Cooper P, Bali T, Allred P, Cruchaga C, Baughn M, Libby RT, Pestronk A, Goate A, Ravits J, Baloh RH.

Neurobiol Aging. 2013 Sep;34(9):2234.e13-9. doi: 10.1016/j.neurobiolaging.2013.03.006. Epub 2013 Apr 16.

44.

Detection of peripheral nerve pathology: comparison of ultrasound and MRI.

Zaidman CM, Seelig MJ, Baker JC, Mackinnon SE, Pestronk A.

Neurology. 2013 Apr 30;80(18):1634-40. doi: 10.1212/WNL.0b013e3182904f3f. Epub 2013 Apr 3.

45.

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study.

Miller TM, Pestronk A, David W, Rothstein J, Simpson E, Appel SH, Andres PL, Mahoney K, Allred P, Alexander K, Ostrow LW, Schoenfeld D, Macklin EA, Norris DA, Manousakis G, Crisp M, Smith R, Bennett CF, Bishop KM, Cudkowicz ME.

Lancet Neurol. 2013 May;12(5):435-42. doi: 10.1016/S1474-4422(13)70061-9. Epub 2013 Mar 29. Erratum in: Lancet Neurol. 2013 May;12(5):423.

46.

Coenzyme Q10 deficiency in children: frequent type 2C muscle fibers with normal morphology.

Sommerville RB, Zaidman CM, Pestronk A.

Muscle Nerve. 2013 Nov;48(5):722-6. doi: 10.1002/mus.23837. Epub 2013 Sep 11.

PMID:
23494902
47.

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP.

Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3.

48.

Multifocal radiculoneuropathy during ipilimumab treatment of melanoma.

Manousakis G, Koch J, Sommerville RB, El-Dokla A, Harms MB, Al-Lozi MT, Schmidt RE, Pestronk A.

Muscle Nerve. 2013 Sep;48(3):440-4. doi: 10.1002/mus.23830. Epub 2013 Jul 27.

PMID:
23447136
49.

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, McDonald C, McNally EM, Weiss RB; United Dystrophinopathy Project.

Ann Neurol. 2013 Apr;73(4):481-8. doi: 10.1002/ana.23819. Epub 2013 Feb 20.

50.

Newborn brachial plexus palsy: evaluation of severity using quantitative ultrasound of muscle.

Zaidman CM, Holland MR, Noetzel MJ, Park TS, Pestronk A.

Muscle Nerve. 2013 Feb;47(2):246-54. doi: 10.1002/mus.23518. Epub 2012 Nov 21.

PMID:
23169008

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