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Cerebellar atrophy in a patient with velocardiofacial syndrome.
Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. Lynch DR, et al. Among authors: fischbeck kh. J Med Genet. 1995 Jul;32(7):561-3. doi: 10.1136/jmg.32.7.561. J Med Genet. 1995. PMID: 7562973 Free PMC article.
Common data elements for clinical research in Friedreich's ataxia.
Lynch DR, Pandolfo M, Schulz JB, Perlman S, Delatycki MB, Payne RM, Shaddy R, Fischbeck KH, Farmer J, Kantor P, Raman SV, Hunegs L, Odenkirchen J, Miller K, Kaufmann P. Lynch DR, et al. Among authors: fischbeck kh. Mov Disord. 2013 Feb;28(2):190-5. doi: 10.1002/mds.25201. Epub 2012 Dec 12. Mov Disord. 2013. PMID: 23239403 Free PMC article.
Nicotinamide in Friedreich's ataxia: useful or not?
Lynch DR, Fischbeck KH. Lynch DR, et al. Lancet. 2014 Aug 9;384(9942):474-5. doi: 10.1016/S0140-6736(14)60573-0. Epub 2014 Apr 30. Lancet. 2014. PMID: 24794818 Free PMC article. No abstract available.
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C, Sarkar N, Lu J, Owen M, Schindler A, Calabresi PA, Sumner CJ, Roda RH, Chaudhry V, Lloyd TE, Crawford TO, Subramony SH, Oh SJ, Richardson P, Tanji K, Kwan JY, Fischbeck KH, Mankodi A. Grunseich C, et al. Among authors: fischbeck kh. J Neurol Neurosurg Psychiatry. 2021 Nov;92(11):1186-1196. doi: 10.1136/jnnp-2020-325437. Epub 2021 Jun 8. J Neurol Neurosurg Psychiatry. 2021. PMID: 34103343 Free PMC article.
279 results