Alan H. Beggs
Alan H. Beggs
Professor of Pediatrics, Harvard Medical School
Adresse e-mail validée de enders.tch.harvard.edu - Page d'accueil
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Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias
PJ Schwartz, SG Priori, C Spazzolini, AJ Moss, GM Vincent, C Napolitano, ...
Circulation 103 (1), 89-95, 2001
18342001
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
JM Kaplan, SH Kim, KN North, H Rennke, LA Correia, HQ Tong, ...
Nature genetics 24 (3), 251-256, 2000
13962000
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
M Koenig, AH Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, ...
American journal of human genetics 45 (4), 498, 1989
10771989
ACTN3 genotype is associated with human elite athletic performance
N Yang, DG MacArthur, JP Gulbin, AG Hahn, AH Beggs, S Easteal, ...
The American Journal of Human Genetics 73 (3), 627-631, 2003
9202003
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
AH Beggs, M Koenig, FM Boyce, LM Kunkel
Human genetics 86 (1), 45-48, 1990
9041990
Competitive binding of α-actinin and calmodulin to the NMDA receptor
M Wyszynski, J Lin, A Rao, E Nigh, AH Beggs, AM Craig, M Sheng
Nature 385 (6615), 439-442, 1997
6481997
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
I Splawski, KW Timothy, N Decher, P Kumar, FB Sachse, AH Beggs, ...
Proceedings of the National Academy of Sciences 102 (23), 8089-8096, 2005
5782005
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
I Splawski, KW Timothy, M Tateyama, CE Clancy, A Malhotra, AH Beggs, ...
Science 297 (5585), 1333-1336, 2002
5742002
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome
DS Paterson, FL Trachtenberg, EG Thompson, RA Belliveau, AH Beggs, ...
Jama 296 (17), 2124-2132, 2006
4882006
Distinctive patterns of microRNA expression in primary muscular disorders
I Eisenberg, A Eran, I Nishino, M Moggio, C Lamperti, AA Amato, ...
Proceedings of the National Academy of Sciences 104 (43), 17016-17021, 2007
4682007
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
AH Beggs, EP Hoffman, JR Snyder, K Arahata, L Specht, F Shapiro, ...
American journal of human genetics 49 (1), 54, 1991
4501991
A common nonsense mutation results in α-actinin-3 deficiency in the general population
KN North, N Yang, D Wattanasirichaigoon, M Mills, S Easteal, AH Beggs
Nature genetics 21 (4), 353-354, 1999
4281999
Differential expression of the actin-binding proteins, α-actinin-2 and-3, in different species: implications for the evolution of functional redundancy
M Mills, N Yang, R Weinberger, DL Vander Woude, AH Beggs, S Easteal, ...
Human molecular genetics 10 (13), 1335-1346, 2001
4192001
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
KJ Nowak, D Wattanasirichaigoon, HH Goebel, M Wilce, K Pelin, ...
Nature genetics 23 (2), 208-212, 1999
3891999
Mutations in dynamin 2 cause dominant centronuclear myopathy
M Bitoun, S Maugenre, PY Jeannet, E Lacene, X Ferrer, P Laforêt, ...
Nature genetics 37 (11), 1207-1209, 2005
3772005
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
HT Gazda, MR Sheen, A Vlachos, V Choesmel, MF O'Donohue, ...
The American Journal of Human Genetics 83 (6), 769-780, 2008
3522008
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
AH Beggs, TJ Byers, JH Knoll, FM Boyce, GA Bruns, LM Kunkel
Journal of Biological Chemistry 267 (13), 9281-9288, 1992
3271992
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
JN Haslett, D Sanoudou, AT Kho, RR Bennett, SA Greenberg, IS Kohane, ...
Proceedings of the National Academy of Sciences 99 (23), 15000-15005, 2002
3032002
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
K Pelin, P Hilpelä, K Donner, C Sewry, PA Akkari, SD Wilton, ...
Proceedings of the National Academy of Sciences 96 (5), 2305-2310, 1999
3011999
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
HT Gazda, A Grabowska, LB Merida-Long, E Latawiec, HE Schneider, ...
The American Journal of Human Genetics 79 (6), 1110-1118, 2006
2922006
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