Program

127
27
10
7
7
3
2
2
1

Journal Year Published

5
7
7
12
13
17
17
12
33
21
8
3
3

Author

159
65
56
50
49
46
34
31
25
23
22
19
16
15
14
14
13
13
13
9

Category

74
59
28
23
20
10
8
8
6
3
1

Keyword

98
49
36
35
32
24
23
20
17
16
14
14
13
12
12
11
11
10
10
10

Journal

12
10
9
8
7
7
7
4
4
4
3
3
3
3
3
3
2
2
2
2

NCATS Publications

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.


Ory DS, Ottinger E, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson C, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin C, Porter FD


Lancet , 2017.

Article Pubmed
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Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective.


Austin C, Cutillo C, Lau LP, Jonker AH, Rath A, Julkowska D, Thomson D, Terry S, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJ, International Rare Diseases Research Consortium (IRDiRC)


Clin Transl Sci , 2017.

Article Pubmed

Progress in rare diseases research 2010-2016: an IRDiRC perspective.


Dawkins HJ, Draghia-Akli R, Lasko P, Lau LP, Jonker AH, Cutillo C, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Cam YL, Hivert V, Austin C, International Rare Diseases Research Consortium (IRDiRC)


Clin Transl Sci , 2017.

Article Pubmed
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The importance of international collaboration for rare diseases research-a European perspective.


Julkowska D, Austin C, Cutillo C, Gancberg D, Hager C, Halftermeyer J, Jonker AH, Lau LPL, Norstedt I, Rath A, Schuster R, Simelyte E, van Weely S


Gene Ther. , 2017.

Article Pubmed

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.


Walkley SU, Davidson C, Jacoby J, Marella PD, Ottinger E, Austin C, Porter FD, Vite CH, Ory DS


Orphanet J Rare Dis , (11), 161, 2016.

Article Pubmed
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ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice.


Abera MB, Xiao J, Nofziger J, Titus S, Southall N, Zheng W, Moritz KE, Ferrer-Alegre M, Cherry JJ, Androphy EJ, Wang A, Xu X, Austin C, Fischbeck KH, Marugan J, Burnett BG


JCI Insight , (1), e88427, 2016.

Article Pubmed
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'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.


Lochmüller H, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Lasko P, Dawkins HJ, Austin C, Boycott KM


Eur. J. Hum. Genet. , 2016.

Article Pubmed
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Putting translational science on to a global stage.


Gilliland CT, Zuk D, Kocis P, Johnson M, Hay S, Hajduch M, Bietrix F, Aversa G, Austin C, Ussi AE


Nat Rev Drug Discov , (15), 217-8, 2016.

Article Pubmed

Basic science: Bedrock of progress.


Collins FS, et al.


Science , (351), 1405, 2016.

Article Pubmed