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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2015 | 3 |
2016 | 5 |
2024 | 0 |
Search Results
8 results
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Page 1
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
Mov Disord. 2016 Nov;31(11):1752-1753. doi: 10.1002/mds.26800. Epub 2016 Sep 22.
Mov Disord. 2016.
PMID: 27653636
Free PMC article.
No abstract available.
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.
Neurol Genet. 2016 Aug 25;2(5):e98. doi: 10.1212/NXG.0000000000000098. eCollection 2016 Oct.
Neurol Genet. 2016.
PMID: 27606357
Free PMC article.
Item in Clipboard
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC.
Madeo M, et al.
Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26.
Am J Hum Genet. 2016.
PMID: 27236917
Free PMC article.
Item in Clipboard
Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.
Masuho I, Fang M, Geng C, Zhang J, Jiang H, Özgul RK, Yılmaz DY, Yalnızoğlu D, Yüksel D, Yarrow A, Myers A, Burn SC, Crotwell PL, Padilla-Lopez S, Dursun A, Martemyanov KA, Kruer MC.
Masuho I, et al.
Neurol Genet. 2016 May 12;2(3):e78. doi: 10.1212/NXG.0000000000000078. eCollection 2016 Jun.
Neurol Genet. 2016.
PMID: 27222887
Free PMC article.
No abstract available.
Item in Clipboard
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.
Autophagy. 2016;12(1):1-222. doi: 10.1080/15548627.2015.1100356.
Autophagy. 2016.
PMID: 26799652
Free PMC article.
No abstract available.
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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.
Salih MA, Seidahmed MZ, El Khashab HY, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC.
Salih MA, et al.
Tremor Other Hyperkinet Mov (N Y). 2015 Jul 9;5:306. doi: 10.7916/D8D21WQ0. eCollection 2015.
Tremor Other Hyperkinet Mov (N Y). 2015.
PMID: 26203402
Free PMC article.
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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.
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.
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Pediatric movement disorders.
Kruer MC.
Kruer MC.
Pediatr Rev. 2015 Mar;36(3):104-15; quiz 116, 129. doi: 10.1542/pir.36-3-104.
Pediatr Rev. 2015.
PMID: 25733762
Free PMC article.
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