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Items: 1 to 20 of 23

1.

Nucleocytoplasmic transport defect in a North American patient with ALS8.

Guber RD, Schindler AB, Budron MS, Chen KL, Li Y, Fischbeck KH, Grunseich C.

Ann Clin Transl Neurol. 2018 Feb 4;5(3):369-375. doi: 10.1002/acn3.515. eCollection 2018 Mar.

2.

Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.

Grunseich C, Wang IX, Watts JA, Burdick JT, Guber RD, Zhu Z, Bruzel A, Lanman T, Chen K, Schindler AB, Edwards N, Ray-Chaudhury A, Yao J, Lehky T, Piszczek G, Crain B, Fischbeck KH, Cheung VG.

Mol Cell. 2018 Feb 1;69(3):426-437.e7. doi: 10.1016/j.molcel.2017.12.030. Epub 2018 Jan 27.

3.

Multigeneration family with dominant SPG30 hereditary spastic paraplegia.

Roda RH, Schindler AB, Blackstone C.

Ann Clin Transl Neurol. 2017 Oct 14;4(11):821-824. doi: 10.1002/acn3.452. eCollection 2017 Nov.

4.

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
5.

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.

Geiger JT, Schindler AB, Blauwendraat C, Singer HS, Scholz SW.

Case Rep Neurol. 2017 Aug 31;9(2):216-221. doi: 10.1159/000479788. eCollection 2017 May-Aug.

6.

Patient-identified impact of symptoms in spinal and bulbar muscular atrophy.

Guber RD, Kokkinis AD, Schindler AB, Bendixen RM, Heatwole CR, Fischbeck KH, Grunseich C.

Muscle Nerve. 2018 Jan;57(1):40-44. doi: 10.1002/mus.25957. Epub 2017 Sep 25.

7.

De novo REEP2 missense mutation in pure hereditary spastic paraplegia.

Roda RH, Schindler AB, Blackstone C.

Ann Clin Transl Neurol. 2017 Apr 11;4(5):347-350. doi: 10.1002/acn3.404. eCollection 2017 May.

8.

SCA8 should not be tested in isolation for ataxia.

Roda RH, Schindler AB, Blackstone C.

Neurol Genet. 2017 Apr 21;3(3):e150. doi: 10.1212/NXG.0000000000000150. eCollection 2017 Jun. No abstract available.

9.

A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.

Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G.

Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr.

10.

Sexual Reassignment Fails to Prevent Kennedy's Disease.

Lanman TA, Bakar D, Badders NM, Burke A, Kokkinis A, Shrader JA, Joe GO, Schindler AB, Bott LC, Harmison GG, Taylor JP, Fischbeck KH, Grunseich C.

J Neuromuscul Dis. 2016 Mar 3;3(1):121-125.

PMID:
27854206
11.

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site.

Roda RH, FitzGibbon EJ, Boucekkine H, Schindler AB, Blackstone C.

Ann Clin Transl Neurol. 2016 Jun 23;3(8):650-4. doi: 10.1002/acn3.329. eCollection 2016 Aug.

12.

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

Sangare M, Dicko I, Guinto CO, Sissoko A, Dembele K, Coulibaly Y, Coulibaly SY, Landoure G, Diallo A, Dolo M, Dolo H, Maiga B, Traore M, Karembe M, Traore K, Toure A, Sylla M, Togora A, Coulibaly S, Traore SF, Hendrickson B, Bricceno K, Schindler AB, Kokkinis A, Meilleur KG, Sangho HA, Diakite B, Kassogue Y, Coulibaly YI, Burnett B, Maiga Y, Doumbia S, Fischbeck KH.

eNeurologicalSci. 2016 Jan 4;3:17-20. doi: 10.1016/j.ensci.2015.12.001. eCollection 2016 Jun.

13.

A randomized controlled trial of exercise in spinal and bulbar muscular atrophy.

Shrader JA, Kats I, Kokkinis A, Zampieri C, Levy E, Joe GO, Woolstenhulme JG, Drinkard BE, Smith MR, Ching W, Ghosh L, Fox D, Auh S, Schindler AB, Fischbeck KH, Grunseich C.

Ann Clin Transl Neurol. 2015 Jul;2(7):739-47. doi: 10.1002/acn3.208. Epub 2015 May 7.

14.

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.

15.

Laing distal myopathy pathologically resembling inclusion body myositis.

Roda RH, Schindler AB, Blackstone C, Mammen AL, Corse AM, Lloyd TE.

Ann Clin Transl Neurol. 2014 Dec;1(12):1053-8. doi: 10.1002/acn3.140. Epub 2014 Nov 6.

16.

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.

17.

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.

18.

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.

Roda RH, Rinaldi C, Singh R, Schindler AB, Blackstone C.

J Clin Neurosci. 2014 Sep;21(9):1627-31. doi: 10.1016/j.jocn.2013.11.048. Epub 2014 May 6.

19.

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH.

Ann Neurol. 2014 Apr;75(4):525-32. doi: 10.1002/ana.24114. Epub 2014 Apr 2.

20.

A review of genetic counseling for Charcot Marie Tooth disease (CMT).

Siskind CE, Panchal S, Smith CO, Feely SM, Dalton JC, Schindler AB, Krajewski KM.

J Genet Couns. 2013 Aug;22(4):422-36. doi: 10.1007/s10897-013-9584-4. Epub 2013 Apr 21. Review.

PMID:
23604902

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