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303 results

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Page 1
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M. Kim M, et al. Among authors: burmeister m. Elife. 2016 Jan 26;5:e12245. doi: 10.7554/eLife.12245. Elife. 2016. PMID: 26812546 Free PMC article.
Genes and genetic testing in hereditary ataxias.
Sandford E, Burmeister M. Sandford E, et al. Among authors: burmeister m. Genes (Basel). 2014 Jul 22;5(3):586-603. doi: 10.3390/genes5030586. Genes (Basel). 2014. PMID: 25055202 Free PMC article.
Evaluation of exome sequencing variation in undiagnosed ataxias.
Sandford E, Li JZ, Burmeister M. Sandford E, et al. Among authors: burmeister m. Brain. 2015 Oct;138(Pt 10):e383. doi: 10.1093/brain/awv087. Epub 2015 Apr 4. Brain. 2015. PMID: 25842391 Free PMC article. No abstract available.
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, … See abstract for full author list ➔ Klionsky DJ, et al. Among authors: burmeister m. Autophagy. 2016;12(1):1-222. doi: 10.1080/15548627.2015.1100356. Autophagy. 2016. PMID: 26799652 Free PMC article. No abstract available.
PRICKLE2 Mutations Might Not Be Involved in Epilepsy.
Sandford E, Bird TD, Li JZ, Burmeister M. Sandford E, et al. Among authors: burmeister m. Am J Hum Genet. 2016 Mar 3;98(3):588-589. doi: 10.1016/j.ajhg.2016.01.009. Am J Hum Genet. 2016. PMID: 26942291 Free PMC article. No abstract available.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Seong E, et al. Among authors: burmeister m. Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30. Ann Neurol. 2018. PMID: 29604224 Free PMC article.
303 results