Martindale J - Search Results

1

Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis.

Lo C, Cooper-Knock J, Garrard K, Martindale J, Williams T, Shaw P. Lo C, et al. Among authors: martindale j. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):473-5. doi: 10.3109/21678421.2012.746989. Epub 2013 Jan 4. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23286748

2

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ. Cooper-Knock J, et al. Among authors: martindale j. Brain. 2012 Mar;135(Pt 3):751-64. doi: 10.1093/brain/awr365. Brain. 2012. PMID: 22366792 Free PMC article.

3

Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis.

Nicholls Z, Hobson E, Martindale J, Shaw PJ. Nicholls Z, et al. Among authors: martindale j. Pract Neurol. 2015 Aug;15(4):280-3. doi: 10.1136/practneurol-2015-001117. Epub 2015 Apr 10. Pract Neurol. 2015. PMID: 25862734 Free article.

4

Variable sensory nerve conduction parameters in late onset Friedreich ataxia.

Alix JJ, Alam T, Garrard K, Martindale J, Shanmugarajah P, Ganesh Rao D, Hadjivassiliou M. Alix JJ, et al. Among authors: martindale j. Muscle Nerve. 2017 Feb;55(2):E7-E8. doi: 10.1002/mus.25363. Epub 2016 Sep 12. Muscle Nerve. 2017. PMID: 27491039 Free article. No abstract available.

5

The documentation of consent and disclosure of neurogenetic testing outside clinical genetics.

Lo C, Martindale J, Hadjivassiliou M, Martin P, Dalton A, Bandmann O. Lo C, et al. Among authors: martindale j. Neurogenetics. 2014 Mar;15(1):19-21. doi: 10.1007/s10048-014-0391-3. Epub 2014 Feb 11. Neurogenetics. 2014. PMID: 24515844

6

HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.

Hewamadduma CA, Kirby J, Kershaw C, Martindale J, Dalton A, McDermott CJ, Shaw PJ. Hewamadduma CA, et al. Among authors: martindale j. Neurology. 2008 May 6;70(19):1717-8. doi: 10.1212/01.wnl.0000311395.31081.70. Neurology. 2008. PMID: 18458233 No abstract available.

7

A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.

Chavada G, Rao DG, Martindale J, Hadjivassiliou M. Chavada G, et al. Among authors: martindale j. J Clin Neuromuscul Dis. 2012 Jun;13(4):206-8. doi: 10.1097/CND.0b013e3182461a83. J Clin Neuromuscul Dis. 2012. PMID: 22622165

8

Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions.

Martindale JE. Martindale JE. Curr Protoc Hum Genet. 2017 Jan 11;92:9.30.1-9.30.22. doi: 10.1002/cphg.30. Curr Protoc Hum Genet. 2017. PMID: 28075481

9

Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations.

Martindale JE, Seneca S, Wieczorek S, Sequeiros J. Martindale JE, et al. Hum Mutat. 2012 Sep;33(9):1359-65. doi: 10.1002/humu.22156. Epub 2012 Aug 1. Hum Mutat. 2012. PMID: 22753119

10

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.

Sequeiros J, Seneca S, Martindale J. Sequeiros J, et al. Among authors: martindale j. Eur J Hum Genet. 2010 Nov;18(11):1188-95. doi: 10.1038/ejhg.2010.10. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179748 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

337 results

Search Page