Search Page
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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 1 |
2014 | 1 |
2016 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7.
Genet Med. 2021.
PMID: 34234304
Free article.
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Marelli C, Guissart C, Hubsch C, Renaud M, Villemin JP, Larrieu L, Charles P, Ayrignac X, Sacconi S, Collignon P, Cuntz-Shadfar D, Perrin L, Benarrosh A, Degardin A, Lagha-Boukbiza O, Mutez E, Carlander B, Morales RJ, Gonzalez V, Carra-Dalliere C, Azakri S, Mignard C, Ollagnon E, Pageot N, Chretien D, Geny C, Azulay JP, Tranchant C, Claustres M, Labauge P, Anheim M, Goizet C, Calvas P, Koenig M.
Marelli C, et al. Among authors: cuntz shadfar d.
Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2.
Hum Mutat. 2016.
PMID: 27528516
Item in Clipboard
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators.
Micol R, et al.
J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12.
J Allergy Clin Immunol. 2011.
PMID: 21665257
Item in Clipboard
Partial acute transverse myelitis is a predictor of multiple sclerosis in children.
Meyer P, Leboucq N, Molinari N, Roubertie A, Carneiro M, Walther-Louvier U, Cuntz-Shadfar D, Leydet J, Cheminal R, Cambonie G, Echenne B, Rondouin G, Deiva K, Mikaeloff Y, Rivier F.
Meyer P, et al. Among authors: cuntz shadfar d.
Mult Scler. 2014 Oct;20(11):1485-93. doi: 10.1177/1352458514526943. Epub 2014 Mar 11.
Mult Scler. 2014.
PMID: 24619933
Item in Clipboard
Cite
Cite