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Alan Beggs

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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TOP 3
Laing Nigel G; Dye Danielle E; Wallgren-Pettersson Carina; Richard Gabriele; Monnier Nicole; Lillis Suzanne; Winder Thomas L; Lochmüller Hanns; Graziano Claudio; Mitrani-Rosenbaum Stella; Twomey Darren; Sparrow John C; Beggs Alan H; Nowak Kristen J
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Parker Kenneth C; Kong Sek Won; Walsh Ronan J; Salajegheh Mohammad; Moghadaszadeh Behzad; Amato Anthony A; Nazareno Remedios; Lin Yin Yin; Krastins Bryan; Sarracino David A; Beggs Alan H; Pinkus Jack L; Greenberg Steven A
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.
Lehtokari Vilma-Lotta; Greenleaf Rebecca S; DeChene Elizabeth T; Kellinsalmi Mutsumi; Pelin Katarina; Laing Nigel G; Beggs Alan H; Wallgren-Pettersson Carina
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.

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All Publications

2009: Laing Nigel G; Dye Danielle E; Wallgren-Pettersson Carina; Richard Gabriele; Monnier Nicole; Lillis Suzanne; Winder Thomas L; Lochmüller Hanns; Graziano Claudio; Mitrani-Rosenbaum Stella; Twomey Darren; Sparrow John C; Beggs Alan H; Nowak Kristen J
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Human mutation 2009;30(9):1267-77.
2009: Parker Kenneth C; Kong Sek Won; Walsh Ronan J; Salajegheh Mohammad; Moghadaszadeh Behzad; Amato Anthony A; Nazareno Remedios; Lin Yin Yin; Krastins Bryan; Sarracino David A; Beggs Alan H; Pinkus Jack L; Greenberg Steven A
Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis.
Muscle & nerve 2009;39(6):739-53.
2009: Lehtokari Vilma-Lotta; Greenleaf Rebecca S; DeChene Elizabeth T; Kellinsalmi Mutsumi; Pelin Katarina; Laing Nigel G; Beggs Alan H; Wallgren-Pettersson Carina
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
Neuromuscular disorders : NMD 2009;19(3):179-81.
2008: Gazda Hanna T; Sheen Mee Rie; Vlachos Adrianna; Choesmel Valerie; O'Donohue Marie-Françoise; Schneider Hal; Darras Natasha; Hasman Catherine; Sieff Colin A; Newburger Peter E; Ball Sarah E; Niewiadomska Edyta; Matysiak Michal; Zaucha Jan M; Glader Bertil; Niemeyer Charlotte; Meerpohl Joerg J; Atsidaftos Eva; Lipton Jeffrey M; Gleizes Pierre-Emmanuel; Beggs Alan H
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
American journal of human genetics 2008;83(6):769-80.
2008: Farrar Jason E; Nater Michelle; Caywood Emi; McDevitt Michael A; Kowalski Jeanne; Takemoto Clifford M; Talbot C Conover; Meltzer Paul; Esposito Diane; Beggs Alan H; Schneider Hal E; Grabowska Agnieszka; Ball Sarah E; Niewiadomska Edyta; Sieff Colin A; Vlachos Adrianna; Atsidaftos Eva; Ellis Steven R; Lipton Jeffrey M; Gazda Hanna T; Arceci Robert J
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia.
Blood 2008;112(5):1582-92.
2007: Walsh Ronan J; Kong Sek Won; Yao Yihong; Jallal Bahija; Kiener Peter A; Pinkus Jack L; Beggs Alan H; Amato Anthony A; Greenberg Steven A
Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis.
Arthritis and rheumatism 2007;56(11):3784-92.
2007: Eisenberg Iris; Eran Alal; Nishino Ichizo; Moggio Maurizio; Lamperti Costanza; Amato Anthony A; Lidov Hart G; Kang Peter B; North Kathryn N; Mitrani-Rosenbaum Stella; Flanigan Kevin M; Neely Lori A; Whitney Duncan; Beggs Alan H; Kohane Isaac S; Kunkel Louis M
Distinctive patterns of microRNA expression in primary muscular disorders.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(43):17016-21.
2007: Pierson Christopher R; Agrawal Pankaj B; Blasko Jessica; Beggs Alan H
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Neuromuscular disorders : NMD 2007;17(7):562-8.
2007: Agrawal Pankaj B; Greenleaf Rebecca S; Tomczak Kinga K; Lehtokari Vilma-Lotta; Wallgren-Pettersson Carina; Wallefeld William; Laing Nigel G; Darras Basil T; Maciver Sutherland K; Dormitzer Philip R; Beggs Alan H
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.
American journal of human genetics 2007;80(1):162-7.
2006: Gazda Hanna T; Grabowska Agnieszka; Merida-Long Lilia B; Latawiec Elzbieta; Schneider Hal E; Lipton Jeffrey M; Vlachos Adrianna; Atsidaftos Eva; Ball Sarah E; Orfali Karen A; Niewiadomska Edyta; Da Costa Lydie; Tchernia Gil; Niemeyer Charlotte; Meerpohl Joerg J; Stahl Joachim; Schratt Gerhard; Glader Bertil; Backer Karen; Wong Carolyn; Nathan David G; Beggs Alan H; Sieff Colin A
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.
American journal of human genetics 2006;79(6):1110-8.
2006: Paterson David S; Trachtenberg Felicia L; Thompson Eric G; Belliveau Richard A; Beggs Alan H; Darnall Ryan; Chadwick Amy E; Krous Henry F; Kinney Hannah C
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.
JAMA : the journal of the American Medical Association 2006;296(17):2124-32.
2006: Moghadaszadeh Behzad; Beggs Alan H
Selenoproteins and their impact on human health through diverse physiological pathways.
Physiology (Bethesda, Md.) 2006;21():307-15.
2006: Sanoudou Despina; Corbett Mark A; Han Mei; Ghoddusi Majid; Nguyen Mai-Anh T; Vlahovich Nicole; Hardeman Edna C; Beggs Alan H
Skeletal muscle repair in a mouse model of nemaline myopathy.
Human molecular genetics 2006;15(17):2603-12.
2006: Gazda Hanna T; Kho Alvin T; Sanoudou Despina; Zaucha Jan M; Kohane Isaac S; Sieff Colin A; Beggs Alan H
Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.
Stem cells (Dayton, Ohio) 2006;24(9):2034-44.
2006: Cerletti Massimiliano; Molloy Michael J; Tomczak Kinga K; Yoon Soonsang; Ramoni Marco F; Kho Alvin T; Beggs Alan H; Gussoni Emanuela
Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion.
Journal of cell science 2006;119(Pt 15):3117-27.
2006: Keller Christian E; Hays Arthur P; Rowland Lewis P; Moghadaszadeh Behzad; Beggs Alan H; Bhagat Govind
Adult-onset nemaline myopathy and monoclonal gammopathy.
Archives of neurology 2006;63(1):132-4.
2005: Barnés Carmen M; Huang Sui; Kaipainen Arja; Sanoudou Despina; Chen Emy J; Eichler Gabriel S; Guo Yuchun; Yu Ying; Ingber Donald E; Mulliken John B; Beggs Alan H; Folkman Judah; Fishman Steven J
Evidence by molecular profiling for a placental origin of infantile hemangioma.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(52):19097-102.
2005: Bitoun Marc; Maugenre Svetlana; Jeannet Pierre-Yves; Lacène Emmanuelle; Ferrer Xavier; Laforêt Pascal; Martin Jean-Jacques; Laporte Jocelyn; Lochmüller Hanns; Beggs Alan H; Fardeau Michel; Eymard Bruno; Romero Norma B; Guicheney Pascale
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nature genetics 2005;37(11):1207-9.
2005: Haslett Judith N; Kang Peter B; Han Mei; Kho Alvin T; Sanoudou Despina; Volinski Jay M; Beggs Alan H; Kohane Isaac S; Kunkel Louis M
The influence of muscle type and dystrophin deficiency on murine expression profiles.
Mammalian genome : official journal of the International Mammalian Genome Society 2005;16(10):739-48.
2005: Kang Peter B; Kho Alvin T; Sanoudou Despina; Haslett Judith N; Dow Chad P; Han Mei; Blasko Jessica M; Lidov Hart G W; Beggs Alan H; Kunkel Louis M
Variations in gene expression among different types of human skeletal muscle.
Muscle & nerve 2005;32(4):483-91.
2005: Pierson Christopher R; Tomczak Kinga; Agrawal Pankaj; Moghadaszadeh Behzad; Beggs Alan H
X-linked myotubular and centronuclear myopathies.
Journal of neuropathology and experimental neurology 2005;64(7):555-64.
2005: Splawski Igor; Timothy Katherine W; Decher Niels; Kumar Pradeep; Sachse Frank B; Beggs Alan H; Sanguinetti Michael C; Keating Mark T
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(23):8089-96; discussion 8086-8.
2004: Gazda Hanna T; Zhong Rong; Long Lilia; Niewiadomska Edyta; Lipton Jeffrey M; Ploszynska Anna; Zaucha Jan M; Vlachos Adrianna; Atsidaftos Evangelia; Viskochil David H; Niemeyer Charlotte M; Meerpohl Joerg J; Rokicka-Milewska Roma; Pospisilova Dagmar; Wiktor-Jedrzejczak W; Nathan David G; Beggs Alan H; Sieff Colin A
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
British journal of haematology 2004;127(1):105-13.
2004: Wallgren-Pettersson Carina; Pelin Katarina; Nowak Kristen J; Muntoni Francesco; Romero Norma B; Goebel Hans H; North Kathryn N; Beggs Alan H; Laing Nigel G;
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Neuromuscular disorders : NMD 2004;14(8-9):461-70.
2004: Agrawal Pankaj B; Strickland Corinne D; Midgett Charles; Morales Ana; Newburger Daniel E; Poulos Melisa A; Tomczak Kinga K; Ryan Monique M; Iannaccone Susan T; Crawford Tom O; Laing Nigel G; Beggs Alan H
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
Annals of neurology 2004;56(1):86-96.
2004: Sanoudou Despina; Frieden Leslie A; Haslett Judith N; Kho Alvin T; Greenberg Steven A; Kohane Isaac S; Kunkel Louis M; Beggs Alan H
Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression.
Neurobiology of disease 2004;15(3):590-600.
2004: Tomczak Kinga K; Marinescu Voichita D; Ramoni Marco F; Sanoudou Despina; Montanaro Federica; Han Mei; Kunkel Louis M; Kohane Isaac S; Beggs Alan H
Expression profiling and identification of novel genes involved in myogenic differentiation.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004;18(2):403-5.
2004: Sanoudou Despina; Kang Peter B; Haslett Judith N; Han Mei; Kunkel Louis M; Beggs Alan H
Transcriptional profile of postmortem skeletal muscle.
Physiological genomics 2004;16(2):222-8.
2003: Sparrow John C; Nowak Kristen J; Durling Hayley J; Beggs Alan H; Wallgren-Pettersson Carina; Romero Norma; Nonaka Ikuya; Laing Nigel G
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Neuromuscular disorders : NMD 2003;13(7-8):519-31.
2003: Yang Nan; MacArthur Daniel G; Gulbin Jason P; Hahn Allan G; Beggs Alan H; Easteal Simon; North Kathryn
ACTN3 genotype is associated with human elite athletic performance.
American journal of human genetics 2003;73(3):627-31.
2003: Haslett Judith N; Sanoudou Despina; Kho Alvin T; Han Mei; Bennett Richard R; Kohane Isaac S; Beggs Alan H; Kunkel Louis M
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle.
Neurogenetics 2003;4(4):163-71.
2003: Nimgaonkar Ashish; Sanoudou Despina; Butte Atul J; Haslett Judith N; Kunkel Louis M; Beggs Alan H; Kohane Isaac S
Reproducibility of gene expression across generations of Affymetrix microarrays.
BMC bioinformatics 2003;4():27.
2003: Sanoudou Despina; Haslett Judith N; Kho Alvin T; Guo Shaoqiang; Gazda Hanna T; Greenberg Steven A; Lidov Hart G W; Kohane Isaac S; Kunkel Louis M; Beggs Alan H
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(8):4666-71.
2003: Ryan M M; Ilkovski B; Strickland C D; Schnell C; Sanoudou D; Midgett C; Houston R; Muirhead D; Dennett X; Shield L K; De Girolami U; Iannaccone S T; Laing N G; North K N; Beggs A H
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
Neurology 2003;60(4):665-73.
2003: Bönnemann C G; Thompson T G; van der Ven P F M; Goebel H H; Warlo I; Vollmers B; Reimann J; Herms J; Gautel M; Takada F; Beggs A H; Fürst D O; Kunkel L M; Hanefeld F; Schröder R
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.
Journal of the neurological sciences 2003;206(1):71-8.
2002: Haslett Judith N; Sanoudou Despina; Kho Alvin T; Bennett Richard R; Greenberg Steven A; Kohane Isaac S; Beggs Alan H; Kunkel Louis M
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(23):15000-5.
2002: Greenberg S A; Sanoudou D; Haslett J N; Kohane I S; Kunkel L M; Beggs A H; Amato A A
Molecular profiles of inflammatory myopathies.
Neurology 2002;59(8):1170-82.
2002: Wattanasirichaigoon D; Swoboda K J; Takada F; Tong H-Q; Lip V; Iannaccone S T; Wallgren-Pettersson C; Laing N G; Beggs A H
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.
Neurology 2002;59(4):613-7.
2002: Splawski Igor; Timothy Katherine W; Tateyama Michihiro; Clancy Colleen E; Malhotra Alka; Beggs Alan H; Cappuccio Francesco P; Sagnella Giuseppe A; Kass Robert S; Keating Mark T
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
Science (New York, N.Y.) 2002;297(5585):1333-6.
2002: Zervos A; Hunt K E; Tong H Q; Avallone J; Morales J; Friedman N; Cohen B H; Clark B; Guo S; Gazda H; Beggs A H; Traboulsi E I
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
European journal of ophthalmology 2002;12(4):253-61.
2001: Ryan M M; Schnell C; Strickland C D; Shield L K; Morgan G; Iannaccone S T; Laing N G; Beggs A H; North K N
Nemaline myopathy: a clinical study of 143 cases.
Annals of neurology 2001;50(3):312-20.
2001: Sanoudou D; Beggs A H
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.
Trends in molecular medicine 2001;7(8):362-8.
2001: Mills M; Yang N; Weinberger R; Vander Woude D L; Beggs A H; Easteal S; North K
Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.
Human molecular genetics 2001;10(13):1335-46.
2001: Gazda H; Lipton J M; Willig T N; Ball S; Niemeyer C M; Tchernia G; Mohandas N; Daly M J; Ploszynska A; Orfali K A; Vlachos A; Glader B E; Rokicka-Milewska R; Ohara A; Baker D; Pospisilova D; Webber A; Viskochil D H; Nathan D G; Beggs A H; Sieff C A
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.
Blood 2001;97(7):2145-50.
2001: Takada F; Vander Woude D L; Tong H Q; Thompson T G; Watkins S C; Kunkel L M; Beggs A H
Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(4):1595-600.
2001: Schwartz P J; Priori S G; Spazzolini C; Moss A J; Vincent G M; Napolitano C; Denjoy I; Guicheney P; Breithardt G; Keating M T; Towbin J A; Beggs A H; Brink P; Wilde A A; Toivonen L; Zareba W; Robinson J L; Timothy K W; Corfield V; Wattanasirichaigoon D; Corbett C; Haverkamp W; Schulze-Bahr E; Lehmann M H; Schwartz K; Coumel P; Bloise R
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.
Circulation 2001;103(1):89-95.
2000: Kaplan J M; Kim S H; North K N; Rennke H; Correia L A; Tong H Q; Mathis B J; Rodríguez-Pérez J C; Allen P G; Beggs A H; Pollak M R
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
Nature genetics 2000;24(3):251-6.
1999: Wallgren-Pettersson C; Pelin K; Hilpelä P; Donner K; Porfirio B; Graziano C; Swoboda K J; Fardeau M; Urtizberea J A; Muntoni F; Sewry C; Dubowitz V; Iannaccone S; Minetti C; Pedemonte M; Seri M; Cusano R; Lammens M; Castagna-Sloane A; Beggs A H; Laing N G; de la Chapelle A
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
Neuromuscular disorders : NMD 1999;9(8):564-72.
1999: Wattanasirichaigoon D; Vesely M R; Duggal P; Levine J C; Blume E D; Wolff G S; Edwards S B; Beggs A H
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
American journal of medical genetics 1999;86(5):470-6.
1999: Nowak K J; Wattanasirichaigoon D; Goebel H H; Wilce M; Pelin K; Donner K; Jacob R L; Hübner C; Oexle K; Anderson J R; Verity C M; North K N; Iannaccone S T; Müller C R; Nürnberg P; Muntoni F; Sewry C; Hughes I; Sutphen R; Lacson A G; Swoboda K J; Vigneron J; Wallgren-Pettersson C; Beggs A H; Laing N G
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nature genetics 1999;23(2):208-12.
1999: Rossignol M; Beggs A H; Pierce E A; Klagsbrun M
Human neuropilin-1 and neuropilin-2 map to 10p12 and 2q34, respectively.
Genomics 1999;57(3):459-60.
1999: North K N; Yang N; Wattanasirichaigoon D; Mills M; Easteal S; Beggs A H
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
Nature genetics 1999;21(4):353-4.
1999: Pelin K; Hilpelä P; Donner K; Sewry C; Akkari P A; Wilton S D; Wattanasirichaigoon D; Bang M L; Centner T; Hanefeld F; Odent S; Fardeau M; Urtizberea J A; Muntoni F; Dubowitz V; Beggs A H; Laing N G; Labeit S; de la Chapelle A; Wallgren-Pettersson C
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(5):2305-10.
1998: Wattanasirichaigoon D; Beggs A H
Molecular genetics of long-QT syndrome.
Current opinion in pediatrics 1998;10(6):628-34.
1998: Wang S M; Zwaan J; Mullaney P B; Jabak M H; Al-Awad A; Beggs A H; Engle E C
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.
American journal of human genetics 1998;63(2):517-25.
1998: Chan Y; Tong H Q; Beggs A H; Kunkel L M
Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo.
Biochemical and biophysical research communications 1998;248(1):134-9.
1998: Satler C A; Vesely M R; Duggal P; Ginsburg G S; Beggs A H
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
Human genetics 1998;102(3):265-72.
1998: Wallgren-Pettersson C; Beggs A H; Laing N G
51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands.
Neuromuscular disorders : NMD 1998;8(1):53-6.
1998: Wyszynski M; Kharazia V; Shanghvi R; Rao A; Beggs A H; Craig A M; Weinberg R; Sheng M
Differential regional expression and ultrastructural localization of alpha-actinin-2, a putative NMDA receptor-anchoring protein, in rat brain.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1998;18(4):1383-92.
1998: Duggal P; Vesely M R; Wattanasirichaigoon D; Villafane J; Kaushik V; Beggs A H
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
Circulation 1998;97(2):142-6.
1997: Khurana T S; Specht L A; Beggs A H; Tomé F M; Letureq F; Chevallay M; Chafey P; Kunkel L M
The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy.
Biochemical and biophysical research communications 1997;241(2):232-5.
1997: Wyszynski M; Lin J; Rao A; Nigh E; Beggs A H; Craig A M; Sheng M
Competitive binding of alpha-actinin and calmodulin to the NMDA receptor.
Nature 1997;385(6615):439-42.
1996: Scharf J M; Damron D; Frisella A; Bruno S; Beggs A H; Kunkel L M; Dietrich W F
The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5.
Genomics 1996;38(3):405-17.
1996: North K N; Beggs A H
Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy.
Neuromuscular disorders : NMD 1996;6(4):229-35.
1996: North K N; Specht L A; Sethi R K; Shapiro F; Beggs A H
Congenital muscular dystrophy associated with merosin deficiency.
Journal of child neurology 1996;11(4):291-5.
1996: North K N; Miller G; Iannaccone S T; Clemens P R; Chad D A; Bella I; Smith T W; Beggs A H; Specht L A
Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy.
Neurology 1996;46(2):461-5.
1995: Engle E C; Marondel I; Houtman W A; de Vries B; Loewenstein A; Lazar M; Ward D C; Kucherlapati R; Beggs A H
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.
American journal of human genetics 1995;57(5):1086-94.
1995: Arikawa-Hirasawa E; Koga R; Tsukahara T; Nonaka I; Mitsudome A; Goto K; Beggs A H; Arahata K
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin.
Neuromuscular disorders : NMD 1995;5(5):429-38.
1995: Byers T J; Beggs A H; McNally E M; Kunkel L M
Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure.
FEBS letters 1995;368(3):500-4.
1995: Azim A C; Knoll J H; Beggs A H; Chishti A H
Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily.
The Journal of biological chemistry 1995;270(29):17407-13.
1994: Engle E C; Kunkel L M; Specht L A; Beggs A H
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.
Nature genetics 1994;7(1):69-73.
1994: Tahvanainen E; Beggs A H; Wallgren-Pettersson C
Exclusion of two candidate loci for autosomal recessive nemaline myopathy.
Journal of medical genetics 1994;31(1):79-80.
1992: Specht L A; Beggs A H; Korf B; Kunkel L M; Shapiro F
Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.
Pediatric neurology 1992;8(6):432-6.
1992: Beggs A H; Hoffman E P; Kunkel L M
Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions.
American journal of medical genetics 1992;44(3):378-81.
1992: Beggs A H; Phillips H A; Kozman H; Mulley J C; Wilton S D; Kunkel L M; Laing N G
A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.
Genomics 1992;13(4):1314-5.
1992: Hardiman O; Brown R H; Beggs A H; Specht L; Sklar R M
Differential glucocorticoid effects on the fusion of Duchenne/Becker and control muscle cultures: pharmacologic detection of accelerated aging in dystrophic muscle.
Neurology 1992;42(5):1085-91.
1992: Beggs A H; Byers T J; Knoll J H; Boyce F M; Bruns G A; Kunkel L M
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
The Journal of biological chemistry 1992;267(13):9281-8.
1992: Byers T J; Neumann P E; Beggs A H; Kunkel L M
ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies.
Neurology 1992;42(3 Pt 1):570-6.
1992: Laing N G; Majda B T; Akkari P A; Layton M G; Mulley J C; Phillips H; Haan E A; White S J; Beggs A H; Kunkel L M
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.
American journal of human genetics 1992;50(3):576-83.
1992: Beggs A H; Neumann P E; Arahata K; Arikawa E; Nonaka I; Anderson M S; Kunkel L M
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(2):623-7.
1991: Beggs A H; Hoffman E P; Snyder J R; Arahata K; Specht L; Shapiro F; Angelini C; Sugita H; Kunkel L M
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
American journal of human genetics 1991;49(1):54-67.
1991: Arahata K; Beggs A H; Honda H; Ito S; Ishiura S; Tsukahara T; Ishiguro T; Eguchi C; Orimo S; Arikawa E
Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy.
Journal of the neurological sciences 1991;101(2):148-56.
1991: Boyce F M; Beggs A H; Feener C; Kunkel L M
Dystrophin is transcribed in brain from a distant upstream promoter.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(4):1276-80.
1991: Boyce F M; Beggs A H; Kunkel L M
Muscular dystrophy research: what have we learned and where do we go from here?
Research publications - Association for Research in Nervous and Mental Disease 1991;69():121-7.
1990: Sklar R M; Beggs A H; Lev A A; Specht L; Shapiro F; Brown R H
Defective dystrophin in Duchenne and Becker dystrophy myotubes in cell culture.
Neurology 1990;40(12):1854-8.
1990: Beggs A H; Koenig M; Boyce F M; Kunkel L M
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
Human genetics 1990;86(1):45-8.
1990: Beggs A H; Kunkel L M
A polymorphic CACA repeat in the 3' untranslated region of dystrophin.
Nucleic acids research 1990;18(7):1931.
1990: Beggs A H; Kunkel L M
Improved diagnosis of Duchenne/Becker muscular dystrophy.
The Journal of clinical investigation 1990;85(3):613-9.
1989: Koenig M; Beggs A H; Moyer M; Scherpf S; Heindrich K; Bettecken T; Meng G; Müller C R; Lindlöf M; Kaariainen H
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
American journal of human genetics 1989;45(4):498-506.
1989: Kunkel L M; Beggs A H; Hoffman E P
Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis.
Clinical chemistry 1989;35(7 Suppl):B21-4.

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