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Items: 40

1.

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.

2.

Holistic segmentation of the lung in cine MRI.

Kovacs W, Hsieh N, Roth H, Nnamdi-Emeratom C, Bandettini WP, Arai A, Mankodi A, Summers RM, Yao J.

J Med Imaging (Bellingham). 2017 Oct;4(4):041310. doi: 10.1117/1.JMI.4.4.041310. Epub 2017 Nov 30.

PMID:
29226176
3.

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.

Jerath NU, Mankodi A, Crawford TO, Grunseich C, Baloui H, Nnamdi-Emeratom C, Schindler AB, Heiman-Patterson T, Chrast R, Shy ME.

Muscle Nerve. 2018 May;57(5):749-755. doi: 10.1002/mus.25981. Epub 2017 Oct 24.

PMID:
28981955
4.

Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy.

Mankodi A, Kovacs W, Norato G, Hsieh N, Bandettini WP, Bishop CA, Shimellis H, Newbould RD, Kim E, Fischbeck KH, Arai AE, Yao J.

Ann Clin Transl Neurol. 2017 Jul 28;4(9):655-662. doi: 10.1002/acn3.440. eCollection 2017 Sep.

5.

Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy.

Mankodi A, Azzabou N, Bulea T, Reyngoudt H, Shimellis H, Ren Y, Kim E, Fischbeck KH, Carlier PG.

Neuromuscul Disord. 2017 Aug;27(8):705-714. doi: 10.1016/j.nmd.2017.04.008. Epub 2017 Apr 28.

6.

Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin.

Watts NR, Zhuang X, Kaufman JD, Palmer IW, Dearborn AD, Coscia S, Blech-Hermoni Y, Alfano C, Pastore A, Mankodi A, Wingfield PT.

Biochemistry. 2017 Apr 11;56(14):2061-2070. doi: 10.1021/acs.biochem.7b00067. Epub 2017 Apr 3.

PMID:
28349680
7.

Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy.

Gaur L, Hanna A, Bandettini WP, Fischbeck KH, Arai AE, Mankodi A.

Ann Clin Transl Neurol. 2016 Oct 19;3(12):948-955. doi: 10.1002/acn3.367. eCollection 2016 Dec.

8.

Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy.

Mankodi A, Bishop CA, Auh S, Newbould RD, Fischbeck KH, Janiczek RL.

Neuromuscul Disord. 2016 Oct;26(10):650-658. doi: 10.1016/j.nmd.2016.07.013. Epub 2016 Jul 28.

9.

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.

Mankodi A, Grunseich C, Skov M, Cook L, Aue G, Purev E, Bakar D, Lehky T, Jurkat-Rott K, Pedersen TH, Childs RW.

Neuromuscul Disord. 2015 Nov;25(11):908-12. doi: 10.1016/j.nmd.2015.08.007. Epub 2015 Aug 20.

10.

Toe-extension myotonia in myotonic dystrophy type 1.

Mankodi A, Grunseich C.

Neurology. 2015 Jul 14;85(2):203. doi: 10.1212/WNL.0000000000001734. No abstract available.

11.

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.

Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhury A, Lehky TJ, Baker EH, Maragakis NJ, Tifft CJ, Fischbeck KH.

J Neurol. 2015;262(4):1066-8. doi: 10.1007/s00415-015-7683-x. Epub 2015 Mar 4. No abstract available.

12.

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.

13.

Atypical presentation of GNE myopathy with asymmetric hand weakness.

de Dios JK, Shrader JA, Joe GO, McClean JC, Williams K, Evers R, Malicdan MC, Ciccone C, Mankodi A, Huizing M, McKew JC, Bluemke DA, Gahl WA, Carrillo-Carrasco N.

Neuromuscul Disord. 2014 Dec;24(12):1063-7. doi: 10.1016/j.nmd.2014.07.006. Epub 2014 Aug 7.

14.

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.

Grunseich C, Kats IR, Bott LC, Rinaldi C, Kokkinis A, Fox D, Chen KL, Schindler AB, Mankodi AK, Shrader JA, Schwartz DP, Lehky TJ, Liu CY, Fischbeck KH.

Neuromuscul Disord. 2014 Nov;24(11):978-81. doi: 10.1016/j.nmd.2014.06.441. Epub 2014 Jul 3.

15.

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Mankodi A, Vanderver A, Schindler A, Toro C, Gahl WA, Mahuran DJ, Blackstone C, Pierson TM.

Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389.

16.

Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.

Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, Kaufman JD, Wingfield PT, Griggs RC, Fischbeck KH, Mankodi A.

J Biol Chem. 2014 May 9;289(19):13615-26. doi: 10.1074/jbc.M114.550418. Epub 2014 Mar 25.

17.

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.

Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H.

Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24.

18.

'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia.

Donkervoort S, Schindler A, Tesi-Rocha C, Schreiber A, Leach ME, Dastgir J, Hu Y, Mankodi A, Wagner KR, Friedman NR, Bönnemann CG.

Neuromuscul Disord. 2013 Dec;23(12):955-61. doi: 10.1016/j.nmd.2013.08.003. Epub 2013 Aug 11.

19.

Skeletal maturation and predicted adult height in children with premature adrenarche.

Gurnurkar S, Arheart KL, Messiah SE, Mankodi A, Carrillo A.

J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):69-74. doi: 10.1515/jpem-2013-0199.

PMID:
23959660
20.

Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy.

Mankodi A, Wheeler TM, Shetty R, Salceies KM, Becher MW, Thornton CA.

Neurobiol Dis. 2012 Jan;45(1):539-46. doi: 10.1016/j.nbd.2011.09.010. Epub 2011 Sep 21.

21.

Myotonic disorders.

Mankodi A.

Neurol India. 2008 Jul-Sep;56(3):298-304. Review.

22.

Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.

Lueck JD, Mankodi A, Swanson MS, Thornton CA, Dirksen RT.

J Gen Physiol. 2007 Jan;129(1):79-94. Epub 2006 Dec 11.

23.

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.

Lueck JD, Lungu C, Mankodi A, Osborne RJ, Welle SL, Dirksen RT, Thornton CA.

Am J Physiol Cell Physiol. 2007 Apr;292(4):C1291-7. Epub 2006 Nov 29.

24.

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy.

Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, Thornton CA.

Hum Mol Genet. 2006 Jul 1;15(13):2087-97. Epub 2006 May 22.

PMID:
16717059
25.

Nuclear RNA foci in the heart in myotonic dystrophy.

Mankodi A, Lin X, Blaxall BC, Swanson MS, Thornton CA.

Circ Res. 2005 Nov 25;97(11):1152-5. Epub 2005 Oct 27.

PMID:
16254211
26.

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.

Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA.

Hum Mol Genet. 2004 Dec 15;13(24):3079-88. Epub 2004 Oct 20.

PMID:
15496431
27.

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2.

Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA.

Ann Neurol. 2003 Dec;54(6):760-8.

PMID:
14681885
28.

A muscleblind knockout model for myotonic dystrophy.

Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS.

Science. 2003 Dec 12;302(5652):1978-80.

29.

Echo of silence: silent mutations, RNA splicing, and neuromuscular diseases.

Mankodi A, Ashizawa T.

Neurology. 2003 Nov 25;61(10):1330-1. No abstract available.

PMID:
14638949
30.

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S.

Arch Neurol. 2003 Sep;60(9):1279-84.

PMID:
12975295
31.

Myotonic syndromes.

Mankodi A, Thornton CA.

Curr Opin Neurol. 2002 Oct;15(5):545-52. Review.

PMID:
12351998
32.

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.

Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA.

Mol Cell. 2002 Jul;10(1):35-44.

33.

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2.

Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA.

Hum Mol Genet. 2001 Sep 15;10(19):2165-70.

34.

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.

Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA.

Science. 2000 Sep 8;289(5485):1769-73.

35.

Posttraumatic akinetic-rigid syndrome resembling Parkinson's disease: a report on three patients.

Bhatt M, Desai J, Mankodi A, Elias M, Wadia N.

Mov Disord. 2000 Mar;15(2):313-7.

PMID:
10752583
36.

Solitary plasmacytoma presenting as peripheral neuropathy: a case report.

Mankodi AK, Rao CV, Katrak SM.

Neurol India. 1999 Sep;47(3):234-7.

37.

Acute and reversible parkinsonism due to organophosphate pesticide intoxication: five cases.

Bhatt MH, Elias MA, Mankodi AK.

Neurology. 1999 Apr 22;52(7):1467-71.

PMID:
10227636
38.

Minimal expansion of the GCG repeat in the PABP2 gene does not predispose to sporadic inclusion body myositis.

Mezei MM, Mankodi A, Brais B, Marineau C, Thornton CA, Rouleau GA, Karpati G.

Neurology. 1999 Feb;52(3):669-70. No abstract available.

PMID:
10025815
39.

A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis.

Wadia N, Pang J, Desai J, Mankodi A, Desai M, Chamberlain S.

Brain. 1998 Dec;121 ( Pt 12):2341-55. Review.

PMID:
9874485
40.

Diagnostic role of Mantoux test site biopsy in neurosarcoidosis.

Mankodi AK, Desai AD, Mathur RS, Poncha FF.

Neurology. 1998 Oct;51(4):1216-8. Review.

PMID:
9781567

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