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Items: 1 to 20 of 109

1.

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project., Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, Straub V, Lochmüller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald CM, Hoffman EP; Cooperative International Neuromuscular Research Group..

Am J Hum Genet. 2016 Nov 3;99(5):1163-1171. doi: 10.1016/j.ajhg.2016.08.023.

PMID:
27745838
2.

Baseline Understanding of Urinary Incontinence (UI) and Prolapse (POP) in New FPMRS Patients: Is There an Age-Related Difference?

Davidson E, Myers EM, De La Cruz JF, Connolly AM.

J Minim Invasive Gynecol. 2015 Nov-Dec;22(6S):S64-S65. doi: 10.1016/j.jmig.2015.08.172. No abstract available.

PMID:
27679299
3.

Evaluation of an E-learning resource on approach to the first unprovoked seizure.

Le Marne FA, McGinness H, Slade R, Cardamone M, Balbir Singh S, Connolly AM, Bye AM.

J Paediatr Child Health. 2016 Sep;52(9):896-900. doi: 10.1111/jpc.13277.

PMID:
27650145
4.

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.

Sommerville RB, Vincenti MG, Winborn K, Casey A, Stitziel NO, Connolly AM, Mann DL.

Trends Cardiovasc Med. 2016 Jun 14. pii: S1050-1738(16)30068-8. doi: 10.1016/j.tcm.2016.06.005. [Epub ahead of print] Review.

PMID:
27452966
5.

Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.

Kwon JM, Abdel-Hamid HZ, Al-Zaidy SA, Mendell JR, Kennedy A, Kinnett K, Cwik VA, Street N, Bolen J, Day JW, Connolly AM.

Muscle Nerve. 2016 Aug;54(2):186-91. doi: 10.1002/mus.25185.

PMID:
27170260
6.

A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.

Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK.

Neurogenetics. 2016 Jul;17(3):173-8. doi: 10.1007/s10048-016-0482-4.

PMID:
27094857
7.

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.

Connolly AM, Florence JM, Zaidman CM, Golumbek PT, Mendell JR, Flanigan KM, Karachunski PI, Day JW, McDonald CM, Darras BT, Kang PB, Siener CA, Gadeken RK, Anand P, Schierbecker JR, Malkus EC, Lowes LP, Alfano LN, Johnson L, Nicorici A, Kelecic JM, Quigley J, Pasternak AE, Miller JP; MDA-DMD Clinical Research Network..

Muscle Nerve. 2016 Oct;54(4):681-9. doi: 10.1002/mus.25089.

PMID:
26930423
8.

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators..

Ann Clin Transl Neurol. 2016 Jan 21;3(2):132-45. doi: 10.1002/acn3.283.

9.

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.

Mendell JR, Goemans N, Lowes LP, Alfano LN, Berry K, Shao J, Kaye EM, Mercuri E; Eteplirsen Study Group and Telethon Foundation DMD Italian Network..

Ann Neurol. 2016 Feb;79(2):257-71. doi: 10.1002/ana.24555.

10.

The Severity of Gliosis in Hippocampal Sclerosis Correlates with Pre-Operative Seizure Burden and Outcome After Temporal Lobectomy.

Johnson AM, Sugo E, Barreto D, Hiew CC, Lawson JA, Connolly AM, Somerville E, Hasic E, Bye AM, Cunningham AM.

Mol Neurobiol. 2016 Oct;53(8):5446-56. doi: 10.1007/s12035-015-9465-y.

PMID:
26452360
11.

Quantitative muscle ultrasound measures rapid declines over time in children with SMA type 1.

Ng KW, Connolly AM, Zaidman CM.

J Neurol Sci. 2015 Nov 15;358(1-2):178-82. doi: 10.1016/j.jns.2015.08.1532.

PMID:
26432577
12.

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.

13.

Feasibility and Reproducibility of Echocardiographic Measures in Children with Muscular Dystrophies.

Spurney CF, McCaffrey FM, Cnaan A, Morgenroth LP, Ghelani SJ, Gordish-Dressman H, Arrieta A, Connolly AM, Lotze TE, McDonald CM, Leshner RT, Clemens PR.

J Am Soc Echocardiogr. 2015 Aug;28(8):999-1008. doi: 10.1016/j.echo.2015.03.003.

14.

Muscle ultrasound quantifies disease progression over time in infants and young boys with duchenne muscular dystrophy.

Zaidman CM, Malkus EC, Connolly AM.

Muscle Nerve. 2015 Sep;52(3):334-8. doi: 10.1002/mus.24609.

PMID:
25704979
15.

Electrical impedance myography in Duchenne muscular dystrophy and healthy controls: A multicenter study of reliability and validity.

Zaidman CM, Wang LL, Connolly AM, Florence J, Wong BL, Parsons JA, Apkon S, Goyal N, Williams E, Escolar D, Rutkove SB, Bohorquez JL; DART-EIM Clinical Evaluators Consortium..

Muscle Nerve. 2015 Oct;52(4):592-7. doi: 10.1002/mus.24611.

PMID:
25702806
16.

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.

17.

Exploring carer perceptions of training in out-of-hospital use of buccal midazolam for emergency management of seizures (2008-2012).

Connolly AM, Beavis E, Mugica-Cox B, Bye AM, Lawson JA.

J Paediatr Child Health. 2015 Jul;51(7):704-7. doi: 10.1111/jpc.12811.

PMID:
25594133
18.

Response to "About focal cortical dysplasia (FCD) type IIIa".

Johnson AM, Sugo E, Barreto D, Cunningham AM, Hiew CC, Lawson JA, Somerville ER, Connolly AM, Bye AM.

Epilepsy Res. 2014 Dec;108(10):1958-9. doi: 10.1016/j.eplepsyres.2014.09.027. No abstract available.

PMID:
25449364
19.

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.

Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, Siener CA, Golumbek PT, Zaidman CM, Mcdonald CM, Johnson L, Nicorici A, Karachunski PI, Day JW, Kelecic JM, Lowes LP, Alfano LN, Darras BT, Kang PB, Quigley J, Pasternak AE, Florence JM; MDA DMD Clinical Research Network..

Muscle Nerve. 2015 Apr;51(4):522-32. doi: 10.1002/mus.24346.

20.

Clinicopathological associations in temporal lobe epilepsy patients utilising the current ILAE focal cortical dysplasia classification.

Johnson AM, Sugo E, Barreto D, Cunningham AM, Hiew CC, Lawson JA, Somerville ER, Connolly AM, Bye AM.

Epilepsy Res. 2014 Oct;108(8):1345-51. doi: 10.1016/j.eplepsyres.2014.06.013.

PMID:
25048307
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