Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 15

1.

Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy.

Roda RH, McCray BA, Klein CJ, Hoke A.

Neurol Genet. 2018 Jan 24;4(1):e220. doi: 10.1212/NXG.0000000000000220. eCollection 2018 Feb. No abstract available.

2.

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.

3.

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.

4.

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.

5.

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB 3rd, Roda RH, Liepert J, Züchner S, Mariotti C, De Jonghe P, Blackstone C, Kruer MC.

Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct. Erratum in: Neurol Genet. 2016 Oct 06;2(5):e111.

6.

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.

7.

Fragile X Tremor Ataxia Syndrome With Rapidly Progressive Myopathy.

Nirenberg MJ, Bhatt JM, Roda RH.

JAMA Neurol. 2015 Aug;72(8):946-8. doi: 10.1001/jamaneurol.2015.0812. No abstract available.

PMID:
26258737
8.

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.

Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS.

Hum Mol Genet. 2015 Sep 1;24(17):4984-96. doi: 10.1093/hmg/ddv220. Epub 2015 Jun 17.

9.

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.

10.

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.

11.

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

Vester A, Velez-Ruiz G, McLaughlin HM; NISC Comparative Sequencing Program, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A.

Hum Mutat. 2013 Jan;34(1):191-9. doi: 10.1002/humu.22210. Epub 2012 Oct 11.

12.

Epilepsy and temporal lobe injury after skull base proton beam therapy.

Roda RH, Gallia GL, Eberhart CG, Weingart JD, Laterra J.

J Clin Neurosci. 2009 Sep;16(9):1220-1. doi: 10.1016/j.jocn.2009.04.003. Epub 2009 Jul 2.

PMID:
19576784
13.

Rhodococcus equi pulmonary-central nervous system syndrome: brain abscess in a patient on high-dose steroids--a case report and review of the literature.

Roda RH, Young M, Timpone J, Rosen J.

Diagn Microbiol Infect Dis. 2009 Jan;63(1):96-9. doi: 10.1016/j.diagmicrobio.2008.08.024.

PMID:
19073303
14.

Role of the Reverse Transcriptase, Nucleocapsid Protein, and Template Structure in the Two-step Transfer Mechanism in Retroviral Recombination.

Roda RH, Balakrishnan M, Hanson MN, Wohrl BM, Le Grice SF, Roques BP, Gorelick RJ, Bambara RA.

J Biol Chem. 2003 Aug 22;278(34):31536-46. Epub 2003 Jun 11.

15.

Strand transfer occurs in retroviruses by a pause-initiated two-step mechanism.

Roda RH, Balakrishnan M, Kim JK, Roques BP, Fay PJ, Bambara RA.

J Biol Chem. 2002 Dec 6;277(49):46900-11. Epub 2002 Oct 4.

Supplemental Content

Support Center