|Efficacy and safety of sirolimus in lymphangioleiomyomatosis|
FX McCormack, Y Inoue, J Moss, LG Singer, C Strange, K Nakata, ...
New England Journal of Medicine 364 (17), 1595-1606, 2011
|Molecular basis of alpha-1-antitrypsin deficiency|
M Brantly, T Nukiwa, RG Crystal
The American journal of medicine 84, 13-31, 1988
|Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I|
K Overturf, M Al-Dhalimy, R Tanguay, M Brantly, CN Ou, M Finegold, ...
Nature genetics 12 (3), 266-273, 1996
|Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms|
ML Brantly, LD Paul, BH Miller, RT Falk, M Wu, RG Crystal
Am Rev Respir Dis 138 (2), 327-336, 1988
|Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors|
S Song, M Morgan, T Ellis, A Poirier, K Chesnut, J Wang, M Brantly, ...
Proceedings of the National Academy of Sciences 95 (24), 14384-14388, 1998
|Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy|
ML Brantly, JD Chulay, L Wang, C Mueller, M Humphries, LT Spencer, ...
Proceedings of the National Academy of Sciences 106 (38), 16363-16368, 2009
|Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky–Pudlak syndrome)|
WA Gahl, M Brantly, MI Kaiser-Kupfer, F Iwata, S Hazelwood, ...
New England Journal of Medicine 338 (18), 1258-1265, 1998
|Phase 2 Clinical Trial of a Recombinant Adeno-Associated Viral Vector Expressing α1-Antitrypsin: Interim Results|
TR Flotte, BC Trapnell, M Humphries, B Carey, R Calcedo, F Rouhani, ...
Human gene therapy 22 (10), 1239-1247, 2011
|Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification|
H Okayama, DT Curiel, ML Brantly, MD Holmes, RG Crystal
The Journal of laboratory and clinical medicine 114 (2), 105-113, 1989
|Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha1-antitrypsin deficiency|
NG McElvaney, JK Stoller, AS Buist, UBS Prakash
Chest 111 (2), 394, 1997
|Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults.|
TR Flotte, ML Brantly, LT Spencer, BJ Byrne, CT Spencer, DJ Baker, ...
Human gene therapy 15 (1), 93, 2004
|Clinical features of individuals with PI* SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group.|
GM Turino, AF Barker, ML Brantly, AB Cohen, RP Connelly, RG Crystal, ...
American journal of respiratory and critical care medicine 154 (6), 1718-1725, 1996
|Phase I Trial of Intramuscular Injection of a Recombinant Adeno-Associated Virus Serotype 2 α1-Antitrypsin (AAT) Vector in AAT-Deficient Adults|
ML Brantly, LT Spencer, M Humphries, TJ Conlon, CT Spencer, A Poirier, ...
Human gene therapy 17 (12), 1177-1186, 2006
|The alpha1-antitrypsin gene and its mutations: Clinical consequences and strategies for therapy|
RG Crystal, ML Brantly, RC Hubbard, DT Curiel, MD Holmes
Chest 95 (1), 196-208, 1989
|Use of a highly purified α1-antitrypsin standard to establish ranges for the common normal and deficient α1-antitrypsin phenotypes|
ML Brantly, JT Wittes, CF Vogelmeier, RC Hubbard, GA Fells, RG Crystal
Chest 100 (3), 703-708, 1991
|Effect of pirfenidone on the pulmonary fibrosis of Hermansky–Pudlak syndrome|
WA Gahl, M Brantly, J Troendle, NA Avila, A Padua, C Montalvo, ...
Molecular genetics and metabolism 76 (3), 234-242, 2002
|Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1|
M Brantly, NA Avila, V Shotelersuk, C Lucero, M Huizing, WA Gahl
Chest 117 (1), 129-136, 2000
|Z α1-antitrypsin polymerizes in the lung and acts as a neutrophil chemoattractant|
AT Mulgrew, CC Taggart, MW Lawless, CM Greene, ML Brantly, ...
Chest 125 (5), 1952-1957, 2004
|States DJ, Holmes MD. The alpha 1-antitrypsin gene and its mutations. Clinical consequences and strategies for therapy|
RG Crystal, ML Brantly, RC Hubbard, DT Curiel
Chest 95 (1), 196-208, 1989
|Serum VEGF-D concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International …|
LR Young, HS Lee, Y Inoue, J Moss, LG Singer, C Strange, K Nakata, ...
The lancet Respiratory medicine 1 (6), 445-452, 2013