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Louis Kunkel

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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Perez Antonio L; Bachrach Estanislao; Illigens Ben M W; Jun Susan J; Bagden Eric; Steffen Leta; Flint Alan; McGowan Francis X; Del Nido Pedro; Montecino-Rodriguez Enca; Tidball James G; Kunkel Louis M
CXCR4 enhances engraftment of muscle progenitor cells.
Sohn Regina Lee; Huang Ping; Kawahara Genri; Mitchell Matthew; Guyon Jeffrey; Kalluri Raghu; Kunkel Louis M; Gussoni Emanuela
A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion.
Mizuno Yuji; Guyon Jeffrey R; Okamoto Koichi; Kunkel Louis M
Expression of synemin in the mouse spinal cord.

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All Publications

2009: Perez Antonio L; Bachrach Estanislao; Illigens Ben M W; Jun Susan J; Bagden Eric; Steffen Leta; Flint Alan; McGowan Francis X; Del Nido Pedro; Montecino-Rodriguez Enca; Tidball James G; Kunkel Louis M
CXCR4 enhances engraftment of muscle progenitor cells.
Muscle & nerve 2009;40(4):562-72.
2009: Sohn Regina Lee; Huang Ping; Kawahara Genri; Mitchell Matthew; Guyon Jeffrey; Kalluri Raghu; Kunkel Louis M; Gussoni Emanuela
A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(23):9274-9.
2009: Mizuno Yuji; Guyon Jeffrey R; Okamoto Koichi; Kunkel Louis M
Expression of synemin in the mouse spinal cord.
Muscle & nerve 2009;39(5):634-41.
2009: Arashiro Patricia; Eisenberg Iris; Kho Alvin T; Cerqueira Antonia M P; Canovas Marta; Silva Helga C A; Pavanello Rita C M; Verjovski-Almeida Sergio; Kunkel Louis M; Zatz Mayana
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(15):6220-5.
2008: Luth Eric S; Jun Susan J; Wessen McKenzie K; Liadaki Kalliopi; Gussoni Emanuela; Kunkel Louis M
Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation.
Journal of cell science 2008;121(Pt 9):1426-34.
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: Mizuno Yuji; Guyon Jeffrey R; Okamoto Koichi; Kunkel Louis M
Synemin expression in brain.
Muscle & nerve 2007;36(4):497-504.
2007: Steffen Leta S; Guyon Jeffrey R; Vogel Emily D; Howell Melanie H; Zhou Yi; Weber Gerhard J; Zon Leonard I; Kunkel Louis M
The zebrafish runzel muscular dystrophy is linked to the titin gene.
Developmental biology 2007;309(2):180-92.
2007: Langenau David M; Keefe Matthew D; Storer Narie Y; Guyon Jeffrey R; Kutok Jeffery L; Le Xiuning; Goessling Wolfram; Neuberg Donna S; Kunkel Louis M; Zon Leonard I
Effects of RAS on the genesis of embryonal rhabdomyosarcoma.
Genes & development 2007;21(11):1382-95.
2007: Kohane Isaac S; Mandl Kenneth D; Taylor Patrick L; Holm Ingrid A; Nigrin Daniel J; Kunkel Louis M
Medicine. Reestablishing the researcher-patient compact.
Science (New York, N.Y.) 2007;316(5826):836-7.
2007: Péault Bruno; Rudnicki Michael; Torrente Yvan; Cossu Giulio; Tremblay Jacques P; Partridge Terry; Gussoni Emanuela; Kunkel Louis M; Huard Johnny
Stem and progenitor cells in skeletal muscle development, maintenance, and therapy.
Molecular therapy : the journal of the American Society of Gene Therapy 2007;15(5):867-77.
2007: Guyon Jeffrey R; Steffen Leta S; Howell Melanie H; Pusack Timothy J; Lawrence Christian; Kunkel Louis M
Modeling human muscle disease in zebrafish.
Biochimica et biophysica acta 2007;1772(2):205-15.
2007: Kang Peter B; Feener Chris A; Estrella Elicia; Thorne Marielle; White Alexander J; Darras Basil T; Amato Anthony A; Kunkel Louis M
LGMD2I in a North American population.
BMC musculoskeletal disorders 2007;8():115.
2007: Mizuno Yuji; Guyon Jeffrey R; Ishii Akiko; Hoshino Sachiko; Ohkoshi Norio; Tamaoka Akira; Okamoto Koichi; Kunkel Louis M
Beta-synemin expression in cardiotoxin-injected rat skeletal muscle.
BMC musculoskeletal disorders 2007;8():40.
2007: Steffen Leta S; Guyon Jeffrey R; Vogel Emily D; Beltre Rosanna; Pusack Timothy J; Zhou Yi; Zon Leonard I; Kunkel Louis M
Zebrafish orthologs of human muscular dystrophy genes.
BMC genomics 2007;8():79.
2006: Dalkilic I; Schienda J; Thompson T G; Kunkel L M
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure.
Molecular and cellular biology 2006;26(17):6522-34.
2006: Duncan D R; Kang P B; Rabbat J C; Briggs C E; Lidov H G W; Darras B T; Kunkel L M
A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
Neurology 2006;67(1):167-9.
2006: Bachrach Estanislao; Perez Antonio L; Choi Yeong-Hoon; Illigens Ben M W; Jun Susan J; del Nido Pedro; McGowan Francis X; Li Sheng; Flint Alan; Chamberlain Jeffrey; Kunkel Louis M
Muscle engraftment of myogenic progenitor cells following intraarterial transplantation.
Muscle & nerve 2006;34(1):44-52.
2006: Schienda Jaclyn; Engleka Kurt A; Jun Susan; Hansen Mark S; Epstein Jonathan A; Tabin Clifford J; Kunkel Louis M; Kardon Gabrielle
Somitic origin of limb muscle satellite and side population cells.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(4):945-50.
2006: Kunkel Louis M; Bachrach Estanislao; Bennett Richard R; Guyon Jeffrey; Steffen Leta
Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish.
Journal of human genetics 2006;51(5):397-406.
2006: Kho Alvin T; Kang Peter B; Kohane Isaac S; Kunkel Louis M
Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes.
BMC musculoskeletal disorders 2006;7():23.
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: Guyon Jeffrey R; Mosley Alycia N; Jun Susan J; Montanaro Federica; Steffen Leta S; Zhou Yi; Nigro Vincenzo; Zon Len I; Kunkel Louis M
Delta-sarcoglycan is required for early zebrafish muscle organization.
Experimental cell research 2005;304(1):105-15.
2005: Kunkel Louis M
2004 William Allan Award address. Cloning of the DMD gene.
American journal of human genetics 2005;76(2):205-14.
2005: Liadaki K; Kho A T; Sanoudou D; Schienda J; Flint A; Beggs A H; Kohane I S; Kunkel L M
Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers.
Experimental cell research 2005;303(2):360-74.
2004: Mizuno Yuji; Guyon Jeffrey R; Watkins Simon C; Mizushima Kazuyuki; Sasaoka Toshikuni; Imamura Michihiro; Kunkel Louis M; Okamoto Koichi
Beta-synemin localizes to regions of high stress in human skeletal myofibers.
Muscle & nerve 2004;30(3):337-46.
2004: Montanaro Federica; Liadaki Kalliopi; Schienda Jaclyn; Flint Alan; Gussoni Emanuela; Kunkel Louis M
Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters.
Experimental cell research 2004;298(1):144-54.
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: Bachrach Estanislao; Li Sheng; Perez Antonio L; Schienda Jaclyn; Liadaki Kalliopi; Volinski Jay; Flint Alan; Chamberlain Jeffrey; Kunkel Louis M
Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(10):3581-6.
2004: Shi Weixing; Chen Zaili; Schottenfeld Jodi; Stahl Richard C; Kunkel Louis M; Chan Yiu-Mo
Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.
Muscle & nerve 2004;29(3):409-19.
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: Geesaman Bard J; Benson Erica; Brewster Stephanie J; Kunkel Louis M; Blanché Hélène; Thomas Gilles; Perls Thomas T; Daly Mark J; Puca Annibale A
Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(24):14115-20.
2003: Guyon Jeffrey R; Kudryashova Elena; Potts Alexandra; Dalkilic Isin; Brosius Melissa A; Thompson Terri G; Beckmann Jacques S; Kunkel Louis M; Spencer Melissa J
Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.
Muscle & nerve 2003;28(4):472-83.
2003: Sebastiani Paola; Lazarus Ross; Weiss Scott T; Kunkel Louis M; Kohane Isaac S; Ramoni Marco F
Minimal haplotype tagging.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(17):9900-5.
2003: Jones K J; Compton A G; Yang N; Mills M A; Peters M F; Mowat D; Kunkel L M; Froehner S C; North K N
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.
Neuromuscular disorders : NMD 2003;13(6):456-67.
2003: Montanaro Federica; Liadaki Kalliopi; Volinski Jay; Flint Alan; Kunkel Louis M
Skeletal muscle engraftment potential of adult mouse skin side population cells.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(16):9336-41.
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: Dalkilic Isin; Kunkel Louis M
Muscular dystrophies: genes to pathogenesis.
Current opinion in genetics & development 2003;13(3):231-8.
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: Guyon J R; Mosley A N; Zhou Y; O'Brien K F; Sheng X; Chiang K; Davidson A J; Volinski J M; Zon L I; Kunkel L M
The dystrophin associated protein complex in zebrafish.
Human molecular genetics 2003;12(6):601-15.
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: Gussoni Emanuela; Bennett Richard R; Muskiewicz Kristina R; Meyerrose Todd; Nolta Jan A; Gilgoff Irene; Stein James; Chan Yiu-Mo; Lidov Hart G; Bönnemann Carsten G; Von Moers Arpad; Morris Glenn E; Den Dunnen Johan T; Chamberlain Jeffrey S; Kunkel Louis M; Weinberg Kenneth
Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation.
The Journal of clinical investigation 2002;110(6):807-14.
2002: Perls Thomas; Kunkel Louis M; Puca Annibale A
The genetics of exceptional human longevity.
Journal of molecular neuroscience : MN 2002;19(1-2):233-8.
2002: Haslett Judith N; Kunkel Louis M
Microarray analysis of normal and dystrophic skeletal muscle.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2002;20(3-5):359-65.
2002: Spencer M J; Guyon J R; Sorimachi H; Potts A; Richard I; Herasse M; Chamberlain J; Dalkilic I; Kunkel L M; Beckmann J S
Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(13):8874-9.
2002: Bönnemann C G; Wong J; Jones K J; Lidov H G W; Feener C A; Shapiro F; Darras B T; Kunkel L M; North K N
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.
Neuromuscular disorders : NMD 2002;12(3):273-80.
2002: Perls Thomas; Kunkel Louis M; Puca Annibale A
The genetics of exceptional human longevity.
Journal of the American Geriatrics Society 2002;50(2):359-68.
2001: O'Brien K F; Kunkel L M
Dystrophin and muscular dystrophy: past, present, and future.
Molecular genetics and metabolism 2001;74(1-2):75-88.
2001: Puca A A; Daly M J; Brewster S J; Matise T C; Barrett J; Shea-Drinkwater M; Kang S; Joyce E; Nicoli J; Benson E; Kunkel L M; Perls T
A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(18):10505-8.
2001: Mizuno Y; Thompson T G; Guyon J R; Lidov H G; Brosius M; Imamura M; Ozawa E; Watkins S C; Kunkel L M
Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(11):6156-61.
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: Bennett R R; den Dunnen J; O'Brien K F; Darras B T; Kunkel L M
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
BMC genetics 2001;2():17.
2001: Mizuno Y; Puca A A; O'Brien K F; Beggs A H; Kunkel L M
Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.
BMC genetics 2001;2():8.
2001: O'Brien K F; Engle E C; Kunkel L M
Analysis of human sarcospan as a candidate gene for CFEOM1.
BMC genetics 2001;2():3.
2000: Takano A; Bönnemann C G; Honda H; Sakai M; Feener C A; Kunkel L M; Sobue G
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations.
Muscle & nerve 2000;23(5):807-10.
2000: Growney J D; Scharf J M; Kunkel L M; Dietrich W F
Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures.
Genomics 2000;64(1):62-81.
2000: Bönnemann C G; Cox G F; Shapiro F; Wu J J; Feener C A; Thompson T G; Anthony D C; Eyre D R; Darras B T; Kunkel L M
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(3):1212-7.
2000: Thompson T G; Chan Y M; Hack A A; Brosius M; Rajala M; Lidov H G; McNally E M; Watkins S; Kunkel L M
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.
The Journal of cell biology 2000;148(1):115-26.
1999: Lacy S E; Bönnemann C G; Buzney E A; Kunkel L M
Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins.
Genomics 1999;62(3):417-26.
1999: Gussoni E; Soneoka Y; Strickland C D; Buzney E A; Khan M K; Flint A F; Kunkel L M; Mulligan R C
Dystrophin expression in the mdx mouse restored by stem cell transplantation.
Nature 1999;401(6751):390-4.
1999: Endrizzi M; Huang S; Scharf J M; Kelter A R; Wirth B; Kunkel L M; Miller W; Dietrich W F
Comparative sequence analysis of the mouse and human Lgn1/SMA interval.
Genomics 1999;60(2):137-51.
1999: von Deimling F; Scharf J M; Liehr T; Rothe M; Kelter A R; Albers P; Dietrich W F; Kunkel L M; Wernert N; Wirth B
Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.
Human genetics 1999;105(1-2):17-27.
1998: Lidov H G; Kunkel L M
Dystrophin and Dp140 in the adult rodent kidney.
Laboratory investigation; a journal of technical methods and pathology 1998;78(12):1543-51.
1998: Chan Y M; Bönnemann C G; Lidov H G; Kunkel L M
Molecular organization of sarcoglycan complex in mouse myotubes in culture.
The Journal of cell biology 1998;143(7):2033-44.
1998: Peters M F; Sadoulet-Puccio H M; Grady M R; Kramarcy N R; Kunkel L M; Sanes J R; Sealock R; Froehner S C
Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle.
The Journal of cell biology 1998;142(5):1269-78.
1998: Scharf J M; Endrizzi M G; Wetter A; Huang S; Thompson T G; Zerres K; Dietrich W F; Wirth B; Kunkel L M
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.
Nature genetics 1998;20(1):83-6.
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: McNally E M; de Sá Moreira E; Duggan D J; Bönnemann C G; Lisanti M P; Lidov H G; Vainzof M; Passos-Bueno M R; Hoffman E P; Zatz M; Kunkel L M
Caveolin-3 in muscular dystrophy.
Human molecular genetics 1998;7(5):871-7.
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: Peters M F; O'Brien K F; Sadoulet-Puccio H M; Kunkel L M; Adams M E; Froehner S C
beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations.
The Journal of biological chemistry 1997;272(50):31561-9.
1997: Sadoulet-Puccio H M; Rajala M; Kunkel L M
Dystrobrevin and dystrophin: an interaction through coiled-coil motifs.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(23):12413-8.
1997: Lidov H G; Kunkel L M
Dp140: alternatively spliced isoforms in brain and kidney.
Genomics 1997;45(1):132-9.
1997: Gussoni E; Blau H M; Kunkel L M
The fate of individual myoblasts after transplantation into muscles of DMD patients.
Nature medicine 1997;3(9):970-7.
1997: Chan Y; Kunkel L M
In vitro expressed dystrophin fragments do not associate with each other.
FEBS letters 1997;410(2-3):153-9.
1997: Sadoulet-Puccio H M; Feener C A; Schaid D J; Thibodeau S N; Michels V V; Kunkel L M
The genomic organization of human dystrobrevin.
Neurogenetics 1997;1(1):37-42.
1997: Cox G F; Kunkel L M
Dystrophies and heart disease.
Current opinion in cardiology 1997;12(3):329-43.
1997: Holm I A; Huang X; Kunkel L M
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
American journal of human genetics 1997;60(4):790-7.
1997: Selig S; Lidov H G; Bruno S A; Segal M M; Kunkel L M
Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(6):2398-403.
1996: Bönnemann C G; McNally E M; Kunkel L M
Beyond dystrophin: current progress in the muscular dystrophies.
Current opinion in pediatrics 1996;8(6):569-82.
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: Vainzof M; Passos-Bueno M R; Canovas M; Moreira E S; Pavanello R C; Marie S K; Anderson L V; Bonnemann C G; McNally E M; Nigro V; Kunkel L M; Zatz M
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
Human molecular genetics 1996;5(12):1963-9.
1996: Bönnemann C G; Passos-Bueno M R; McNally E M; Vainzof M; de Sá Moreira E; Marie S K; Pavanello R C; Noguchi S; Ozawa E; Zatz M; Kunkel L M
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
Human molecular genetics 1996;5(12):1953-61.
1996: McNally E M; Duggan D; Gorospe J R; Bönnemann C G; Fanin M; Pegoraro E; Lidov H G; Noguchi S; Ozawa E; Finkel R S; Cruse R P; Angelini C; Kunkel L M; Hoffman E P
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.
Human molecular genetics 1996;5(11):1841-7.
1996: McNally E M; Passos-Bueno M R; Bönnemann C G; Vainzof M; de Sá Moreira E; Lidov H G; Othmane K B; Denton P H; Vance J M; Zatz M; Kunkel L M
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
American journal of human genetics 1996;59(5):1040-7.
1996: Gussoni E; Wang Y; Fraefel C; Miller R G; Blau H M; Geller A I; Kunkel L M
A method to codetect introduced genes and their products in gene therapy protocols.
Nature biotechnology 1996;14(8):1012-6.
1996: McNally E M; Bönnemann C G; Kunkel L M; Bhattacharya S K
Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy.
The New England journal of medicine 1996;334(24):1610-1.
1996: Sadoulet-Puccio H M; Khurana T S; Cohen J B; Kunkel L M
Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane.
Human molecular genetics 1996;5(4):489-96.
1996: Ahn A H; Freener C A; Gussoni E; Yoshida M; Ozawa E; Kunkel L M
The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.
The Journal of biological chemistry 1996;271(5):2724-30.
1996: Sadoulet-Puccio H M; Kunkel L M
Dystrophin and its isoforms.
Brain pathology (Zurich, Switzerland) 1996;6(1):25-35.
1995: Noguchi S; McNally E M; Ben Othmane K; Hagiwara Y; Mizuno Y; Yoshida M; Yamamoto H; Bönnemann C G; Gussoni E; Denton P H; Kyriakides T; Middleton L; Hentati F; Ben Hamida M; Nonaka I; Vance J M; Kunkel L M; Ozawa E
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
Science (New York, N.Y.) 1995;270(5237):819-22.
1995: Ljunggren A; Duggan D; McNally E; Boylan K B; Gama C H; Kunkel L M; Hoffman E P
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
Annals of neurology 1995;38(3):367-72.
1995: Khurana T S; Prendergast R A; Alameddine H S; Tomé F M; Fardeau M; Arahata K; Sugita H; Kunkel L M
Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing.
The Journal of experimental medicine 1995;182(2):467-75.
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: Selig S; Bruno S; Scharf J M; Wang C H; Vitale E; Gilliam T C; Kunkel L M
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(9):3702-6.
1995: Lidov H G; Selig S; Kunkel L M
Dp140: a novel 140 kDa CNS transcript from the dystrophin locus.
Human molecular genetics 1995;4(3):329-35.
1995: Ahn A H; Kunkel L M
Syntrophin binds to an alternatively spliced exon of dystrophin.
The Journal of cell biology 1995;128(3):363-71.
1995: Khurana T S; Kunkel L M; Frederickson A D; Carbonetto S; Watkins S C
Interaction of chromosome-6-encoded dystrophin related protein with the extracellular matrix.
Journal of cell science 1995;108 ( Pt 1)():173-85.
1994: McNally E M; Yoshida M; Mizuno Y; Ozawa E; Kunkel L M
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(21):9690-4.
1994: Lien L L; Feener C A; Fischbach N; Kunkel L M
Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15.
Genomics 1994;22(2):273-80.
1994: Ahn A H; Yoshida M; Anderson M S; Feener C A; Selig S; Hagiwara Y; Ozawa E; Kunkel L M
Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(10):4446-50.
1994: Khurana T S; Engle E C; Bennett R R; Silverman G A; Selig S; Bruns G A; Kunkel L M
(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.
Human molecular genetics 1994;3(5):841.
1993: Lidov H G; Byers T J; Kunkel L M
The distribution of dystrophin in the murine central nervous system: an immunocytochemical study.
Neuroscience 1993;54(1):167-87.
1993: Byers T J; Lidov H G; Kunkel L M
An alternative dystrophin transcript specific to peripheral nerve.
Nature genetics 1993;4(1):77-81.
1993: Ahn A H; Kunkel L M
The structural and functional diversity of dystrophin.
Nature genetics 1993;3(4):283-91.
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: Khurana T S; Watkins S C; Kunkel L M
The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain.
The Journal of cell biology 1992;119(2):357-66.
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: Anderson M S; Kunkel L M
The molecular and biochemical basis of Duchenne muscular dystrophy.
Trends in biochemical sciences 1992;17(8):289-92.
1992: Cartaud A; Ludosky M A; Tomé F M; Collin H; Stetzkowski-Marden F; Khurana T S; Kunkel L M; Fardeau M; Changeux J P; Cartaud J
Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata.
Neuroscience 1992;48(4):995-1003.
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: 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: Byers T J; Kunkel L M; Watkins S C
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle.
The Journal of cell biology 1991;115(2):411-21.
1991: Lien L L; Boyce F M; Kleyn P; Brzustowicz L M; Menninger J; Ward D C; Gilliam T C; Kunkel L M
Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(17):7873-6.
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: Feener C A; Boyce F M; Kunkel L M
Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.
American journal of human genetics 1991;48(3):621-7.
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.
1991: Khurana T S; Watkins S C; Chafey P; Chelly J; Tomé F M; Fardeau M; Kaplan J C; Kunkel L M
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.
Neuromuscular disorders : NMD 1991;1(3):185-94.
1990: Lidov H G; Byers T J; Watkins S C; Kunkel L M
Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons.
Nature 1990;348(6303):725-8.
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: Khurana T S; Hoffman E P; Kunkel L M
Identification of a chromosome 6-encoded dystrophin-related protein.
The Journal of biological chemistry 1990;265(28):16717-20.
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: Koenig M; Kunkel L M
Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility.
The Journal of biological chemistry 1990;265(8):4560-6.
1990: Beggs A H; Kunkel L M
Improved diagnosis of Duchenne/Becker muscular dystrophy.
The Journal of clinical investigation 1990;85(3):613-9.
1990: Kunkel L M
The dilemma of manifesting carriers in the context of myoblast transplantation.
Advances in experimental medicine and biology 1990;280():285-6.
1989: Hoffman E P; Kunkel L M; Angelini C; Clarke A; Johnson M; Harris J B
Improved diagnosis of Becker muscular dystrophy by dystrophin testing.
Neurology 1989;39(8):1011-7.
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.
1989: Kunkel L M
The Wellcome lecture, 1988. Muscular dystrophy: a time of hope.
Proceedings of the Royal Society of London. Series B, Containing papers of a Biological character. Royal Society (Great Britain) 1989;237(1286):1-9.
1989: Feener C A; Koenig M; Kunkel L M
Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.
Nature 1989;338(6215):509-11.
1989: Hoffman E P; Watkins S C; Slayter H S; Kunkel L M
Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin.
The Journal of cell biology 1989;108(2):503-10.
1989: Hoffman E P; Kunkel L M
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
Neuron 1989;2(1):1019-29.
1988: Hoffman E P; Hudecki M S; Rosenberg P A; Pollina C M; Kunkel L M
Cell and fiber-type distribution of dystrophin.
Neuron 1988;1(5):411-20.
1988: Koenig M; Monaco A P; Kunkel L M
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Cell 1988;53(2):219-28.
1988: Monaco A P; Bertelson C J; Liechti-Gallati S; Moser H; Kunkel L M
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
Genomics 1988;2(1):90-5.
1987: Hoffman E P; Brown R H; Kunkel L M
Dystrophin: the protein product of the Duchenne muscular dystrophy locus.
Cell 1987;51(6):919-28.
1987: Hoffman E P; Knudson C M; Campbell K P; Kunkel L M
Subcellular fractionation of dystrophin to the triads of skeletal muscle.
Nature 1987;330(6150):754-8.
1987: Hoffman E P; Monaco A P; Feener C C; Kunkel L M
Conservation of the Duchenne muscular dystrophy gene in mice and humans.
Science (New York, N.Y.) 1987;238(4825):347-50.
1987: Koenig M; Hoffman E P; Bertelson C J; Monaco A P; Feener C; Kunkel L M
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.
Cell 1987;50(3):509-17.
1987: Kunkel L M; Monaco A P; Hoffman E; Koenig M; Feener C; Bertelson C
Molecular studies of progressive muscular dystrophy (Duchenne).
Enzyme 1987;38(1-4):72-5.

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