Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

161 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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. Renvoisé B, et al. Among authors: blackstone c. Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389. doi: 10.1002/acn3.64. Ann Clin Transl Neurol. 2014. PMID: 24999486 Free PMC article.
Laing distal myopathy pathologically resembling inclusion body myositis.
Roda RH, Schindler AB, Blackstone C, Mammen AL, Corse AM, Lloyd TE. Roda RH, et al. Among authors: blackstone c. Ann Clin Transl Neurol. 2014 Dec;1(12):1053-8. doi: 10.1002/acn3.140. Epub 2014 Nov 6. Ann Clin Transl Neurol. 2014. PMID: 25574480 Free PMC article.
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. Hirst J, et al. Among authors: blackstone c. Hum Mol Genet. 2015 Sep 1;24(17):4984-96. doi: 10.1093/hmg/ddv220. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085577 Free PMC article.
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. Hirst J, et al. Among authors: blackstone c. Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct. Neurol Genet. 2016. PMID: 27606357 Free PMC article.
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. Guinto CO, et al. Among authors: blackstone c. Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr. Ann Clin Transl Neurol. 2017. PMID: 28382308 Free PMC article.
SCA8 should not be tested in isolation for ataxia.
Roda RH, Schindler AB, Blackstone C. Roda RH, et al. Among authors: blackstone c. Neurol Genet. 2017 Apr 21;3(3):e150. doi: 10.1212/NXG.0000000000000150. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28451643 Free PMC article. No abstract available.
161 results