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Louis Kunkel

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Steven E Boyden; Basil T Darras; Elizabeth T DeChene; Friederike Dey; Anna R Duncan; Elicia A Estrella; Alan H Beggs; Jessica M Blasko-Goehringer; Carsten G Bönnemann; Genri Kawahara; Louis Kunkel; Hart G W Lidov; Lane J Mahoney; Jerry R Mendell; Satomi Mitsuhashi; Jennifer A Myers; Ichizo Nishino; Peter B Kang
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Vandana Gupta; Jeffrey R Guyon; Louis Kunkel; Marie Discenza; Alan H Beggs
α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.
Kalliopi Liadaki; Emanuela Gussoni; McKenzie Wessen; Eric S Luth; Susan Jun; Juan Carlos Casar; Louis Kunkel
β4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle.

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All Publications

2012: Steven E Boyden; Basil T Darras; Elizabeth T DeChene; Friederike Dey; Anna R Duncan; Elicia A Estrella; Alan H Beggs; Jessica M Blasko-Goehringer; Carsten G Bönnemann; Genri Kawahara; Louis Kunkel; Hart G W Lidov; Lane J Mahoney; Jerry R Mendell; Satomi Mitsuhashi; Jennifer A Myers; Ichizo Nishino; Peter B Kang
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Neurogenetics 2012;13(2):115-24.
2012: Vandana Gupta; Jeffrey R Guyon; Louis Kunkel; Marie Discenza; Alan H Beggs
α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2012;26(5):1892-908.
2012: Kalliopi Liadaki; Emanuela Gussoni; McKenzie Wessen; Eric S Luth; Susan Jun; Juan Carlos Casar; Louis Kunkel
β4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2012;60(1):31-44.
2011: Genri Kawahara; Jennifer A Myers; Peter R Serafini; Matthew S Alexander; Louis Kunkel
Characterization of zebrafish dysferlin by morpholino knockdown.
Biochemical and biophysical research communications 2011;413(2):358-63.
2011: Matthew S Alexander; Genri Kawahara; Alvin T Kho; Melanie H Howell; Timothy J Pusack; Jennifer A Myers; Federica Montanaro; Leonard I Zon; Jeffrey R Guyon; Louis Kunkel
Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors.
Muscle & nerve 2011;43(5):741-50.
2011: Vandana Gupta; Genri Kawahara; Stacey R Gundry; Aye T Chen; Wayne I Lencer; Yi Zhou; Leonard I Zon; Louis Kunkel; Alan H Beggs
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.
Human molecular genetics 2011;20(9):1712-25.
2011: Fedik Rahimov; Oliver D King; Leigh C Warsing; Rachel E Powell; Charles P Emerson; Louis Kunkel; Kathryn R Wagner
Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor.
Physiological genomics 2011;43(8):398-407.
2011: Genri Kawahara; Jeremy A Karpf; Jennifer A Myers; Matthew S Alexander; Jeffrey R Guyon; Louis Kunkel
Drug screening in a zebrafish model of Duchenne muscular dystrophy.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(13):5331-6.
2011: Matthew S Alexander; Juan Carlos Casar; Iris Eisenberg; Elicia A Estrella; Robert T Gonzalez; Peter B Kang; Genri Kawahara; Norio Motohashi; Jennifer A Myers; Louis Kunkel
Regulation of DMD pathology by an ankyrin-encoded miRNA.
Skeletal muscle 2011;1():27.
2011: Steven E Boyden; Anna R Duncan; Elicia A Estrella; Jonathan S Katz; Louis Kunkel; Hart G W Lidov; Lane J Mahoney; Peter B Kang
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
BMC medical genetics 2011;12():87.
2010: Steven E Boyden; Mustafa A Salih; Anna R Duncan; Alexander J White; Elicia A Estrella; Stephanie L Burgess; Mohammed Z Seidahmed; Abdullah S Al-Jarallah; Hisham M S Alkhalidi; Waleed M Al-Maneea; Richard R Bennett; Salem H Alshemmari; Louis Kunkel; Peter B Kang
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Neurogenetics 2010;11(4):449-55.
2010: Peter B Kang; Hart G W Lidov; Alexander J White; Matthew Mitchell; Anuradha Balasubramanian; Elicia Estrella; Richard R Bennett; Basil T Darras; Frederic D Shapiro; Barbara J Bambach; Joanne Kurtzberg; Emanuela Gussoni; Louis Kunkel
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy.
Muscle & nerve 2010;41(6):746-50.
2010: Genri Kawahara; Jeffrey R Guyon; Yukio Nakamura; Louis Kunkel
Zebrafish models for human FKRP muscular dystrophies.
Human molecular genetics 2010;19(4):623-33.
2010: Christine E Briggs; Chao-Yu Guo; Cynthia Schoettler; Ilina Rosoklija; Andres Silva; Stuart B Bauer; Alan B Retik; Louis Kunkel; Hiep T Nguyen
A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5.
European journal of human genetics : EJHG 2010;18(2):245-50.
2010: Steven E Boyden; Louis Kunkel
High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci.
PloS one 2010;5(8):e12432.
2009: Antonio L Perez; Estanislao Bachrach; Ben M-W Illigens; Susan J Jun; Eric Bagden; Leta Steffen; Alan Flint; Francis X McGowan; Pedro J del Nido; Enca Montecino-Rodriguez; James G Tidball; Louis Kunkel
CXCR4 enhances engraftment of muscle progenitor cells.
Muscle & nerve 2009;40(4):562-72.
2009: Leah A Mallory; James G Shaw; Stephanie L Burgess; Elicia Estrella; Samuel Nurko; Tyler M Burpee; Michael S Agus; Basil T Darras; Louis Kunkel; Peter B Kang
Congenital myasthenic syndrome with episodic apnea.
Pediatric neurology 2009;41(1):42-5.
2009: Regina Lee Sohn; Ping Huang; Genri Kawahara; Matthew Mitchell; Jeffrey R Guyon; Raghu Kalluri; Louis Kunkel; Emanuela Gussoni
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: Yuji Mizuno; Jeffrey R Guyon; Koichi Okamoto; Louis Kunkel
Expression of synemin in the mouse spinal cord.
Muscle & nerve 2009;39(5):634-41.
2009: Patricia Arashiro; Iris Eisenberg; Alvin T Kho; Antonia M P Cerqueira; Marta Canovas; Helga C A Silva; Rita C M Pavanello; Sergio Verjovski-Almeida; Louis Kunkel; Mayana Zatz
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.
2009: Alal Eran; Kaitlin R Graham; Kayla Vatalaro; Jillian McCarthy; Christin Collins; Heather Peters; Stephanie J Brewster; Ellen Hanson; Rachel Hundley; Leonard Rappaport; Ingrid A Holm; Isaac S Kohane; Louis Kunkel
Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients".
The Journal of clinical investigation 2009;119(4):679-80; author reply 680-1.
2009: Richard R Bennett; Hal E Schneider; Elicia Estrella; Stephanie Burgess; Andrew S Cheng; Caitlin Barrett; Va Lip; Poh San Lai; Yiping Shen; Bai-Lin Wu; Basil T Darras; Alan H Beggs; Louis Kunkel
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
BMC genetics 2009;10():66.
2009: Iris Eisenberg; Matthew S Alexander; Louis Kunkel
miRNAS in normal and diseased skeletal muscle.
Journal of cellular and molecular medicine 2009;13(1):2-11.
2009: Jeffrey R Guyon; Julie Goswami; Susan J Jun; Marielle Thorne; Melanie Howell; Timothy Pusack; Genri Kawahara; Leta S Steffen; Michal Galdzicki; Louis Kunkel
Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin.
Human molecular genetics 2009;18(1):202-11.
2008: Eric S Luth; Susan J Jun; McKenzie K Wessen; Kalliopi Liadaki; Emanuela Gussoni; Louis Kunkel
Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation.
Journal of cell science 2008;121(Pt 9):1426-34.
2007: Iris Eisenberg; Alal Eran; Ichizo Nishino; Maurizio Moggio; Costanza Lamperti; Anthony A Amato; Hart G W Lidov; Peter B Kang; Kathryn N North; Stella Mitrani-Rosenbaum; Kevin M Flanigan; Lori A Neely; Duncan Whitney; Alan H Beggs; Isaac S Kohane; Louis Kunkel
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: Yuji Mizuno; Jeffrey R Guyon; Koichi Okamoto; Louis Kunkel
Synemin expression in brain.
Muscle & nerve 2007;36(4):497-504.
2007: Leta S Steffen; Jeffrey R Guyon; Emily D Vogel; Melanie H Howell; Yi Zhou; Gerhard J Weber; Leonard I Zon; Louis Kunkel
The zebrafish runzel muscular dystrophy is linked to the titin gene.
Developmental biology 2007;309(2):180-92.
2007: David M Langenau; Matthew D Keefe; Narie Y Storer; Jeffrey R Guyon; Jeffery L Kutok; Xiuning Le; Wolfram Goessling; Donna Neuberg; Louis Kunkel; Leonard I Zon
Effects of RAS on the genesis of embryonal rhabdomyosarcoma.
Genes & development 2007;21(11):1382-95.
2007: Isaac S Kohane; Kenneth D Mandl; Patrick L Taylor; Ingrid A Holm; Daniel J Nigrin; Louis Kunkel
Medicine. Reestablishing the researcher-patient compact.
Science (New York, N.Y.) 2007;316(5826):836-7.
2007: Bruno Péault; Michael Rudnicki; Yvan Torrente; Giulio Cossu; Jacques P Tremblay; Terry Partridge; Emanuela Gussoni; Louis Kunkel; Johnny Huard
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: Jeffrey R Guyon; Leta S Steffen; Melanie H Howell; Timothy J Pusack; Christian Lawrence; Louis Kunkel
Modeling human muscle disease in zebrafish.
Biochimica et biophysica acta 2007;1772(2):205-15.
2007: Peter B Kang; CA Feener; Elicia Estrella; Marielle Thorne; Alexander J White; Basil T Darras; Anthony A Amato; Louis Kunkel
LGMD2I in a North American population.
BMC musculoskeletal disorders 2007;8():115.
2007: Yuji Mizuno; Jeffrey R Guyon; Akiko Ishii; Sachiko Hoshino; Norio Ohkoshi; Akira Tamaoka; Koichi Okamoto; Louis Kunkel
Beta-synemin expression in cardiotoxin-injected rat skeletal muscle.
BMC musculoskeletal disorders 2007;8():40.
2007: Leta S Steffen; Jeffrey R Guyon; Emily D Vogel; Rosanna Beltre; Timothy J Pusack; Yi Zhou; Leonard I Zon; Louis Kunkel
Zebrafish orthologs of human muscular dystrophy genes.
BMC genomics 2007;8():79.
2006: Isin Dalkilic; Jaclyn Schienda; Terri G Thompson; Louis Kunkel
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure.
Molecular and cellular biology 2006;26(17):6522-34.
2006: D R Duncan; Peter B Kang; J C Rabbat; C E Briggs; Hart G W Lidov; Basil T Darras; Louis Kunkel
A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
Neurology 2006;67(1):167-9.
2006: Estanislao Bachrach; Antonio L Perez; Yeong-Hoon Choi; Ben M-W Illigens; Susan J Jun; Pedro J del Nido; Francis X McGowan; Sheng Li; Alan Flint; Jeffrey Chamberlain; Louis Kunkel
Muscle engraftment of myogenic progenitor cells following intraarterial transplantation.
Muscle & nerve 2006;34(1):44-52.
2006: Jaclyn Schienda; Kurt A Engleka; Susan Jun; Mark S Hansen; Jonathan A Epstein; Clifford J Tabin; Louis Kunkel; Gabrielle Kardon
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: Louis Kunkel; Estanislao Bachrach; Richard R Bennett; Jeffrey R Guyon; Leta Steffen
Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish.
Journal of human genetics 2006;51(5):397-406.
2006: Alvin T Kho; Peter B Kang; Isaac S Kohane; Louis Kunkel
Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes.
BMC musculoskeletal disorders 2006;7():23.
2005: Judith N Haslett; Peter B Kang; Mei Han; Alvin T Kho; Despina Sanoudou; Jay Volinski; Alan H Beggs; Isaac S Kohane; Louis Kunkel
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: Peter B Kang; Alvin T Kho; Despina Sanoudou; Judith N Haslett; Chad P Dow; Mei Han; Jessica M Blasko; Hart G W Lidov; Alan H Beggs; Louis Kunkel
Variations in gene expression among different types of human skeletal muscle.
Muscle & nerve 2005;32(4):483-91.
2005: Jeffrey R Guyon; Alycia N Mosley; Susan J Jun; Federica Montanaro; Leta S Steffen; Yi Zhou; Vincenzo Nigro; Leonard I Zon; Louis Kunkel
Delta-sarcoglycan is required for early zebrafish muscle organization.
Experimental cell research 2005;304(1):105-15.
2005: Kalliopi Liadaki; Alvin T Kho; Despina Sanoudou; Jaclyn Schienda; Alan Flint; A H Beggs; I S Kohane; Louis Kunkel
Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers.
Experimental cell research 2005;303(2):360-74.
2005: Louis Kunkel
2004 William Allan Award address. Cloning of the DMD gene.
American journal of human genetics 2005;76(2):205-14.
2004: Yuji Mizuno; Jeffrey R Guyon; simon simon watkins; Kazuyuki Mizushima; Toshikuni Sasaoka; Michihiro Imamura; Louis Kunkel; Koichi Okamoto
Beta-synemin localizes to regions of high stress in human skeletal myofibers.
Muscle & nerve 2004;30(3):337-46.
2004: Federica Montanaro; Kalliopi Liadaki; Jaclyn Schienda; Alan Flint; Emanuela Gussoni; Louis Kunkel
Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters.
Experimental cell research 2004;298(1):144-54.
2004: Despina Sanoudou; Leslie A Frieden; Judith N Haslett; Alvin T Kho; Steven A Greenberg; Isaac S Kohane; Louis Kunkel; Alan H Beggs
Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression.
Neurobiology of disease 2004;15(3):590-600.
2004: Estanislao Bachrach; Sheng Li; Antonio L Perez; Jaclyn Schienda; Kalliopi Liadaki; Jay Volinski; Alan Flint; Jeffrey Chamberlain; Louis Kunkel
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: Weixing Shi; Zaili Chen; Jodi Schottenfeld; Richard C Stahl; Louis Kunkel; Yiu-Mo Chan
Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.
Muscle & nerve 2004;29(3):409-19.
2004: Kinga K Tomczak; Voichita D Marinescu; Marco F Ramoni; Despina Sanoudou; Federica Montanaro; Mei Han; Louis Kunkel; Isaac S Kohane; Alan H Beggs
Expression profiling and identification of novel genes involved in myogenic differentiation.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004;18(2):403-5.
2004: Despina Sanoudou; Peter B Kang; Judith N Haslett; Mei Han; Louis Kunkel; Alan H Beggs
Transcriptional profile of postmortem skeletal muscle.
Physiological genomics 2004;16(2):222-8.
2003: Mounir Kefi; Rim Amouri; Adel Driss; Christiane Ben Hamida; Mongi Ben Hamida; Louis Kunkel; Faycal Hentati
Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.
Neuromuscular disorders : NMD 2003;13(10):779-87.
2003: Bard J Geesaman; Erica Benson; Stephanie J Brewster; Louis Kunkel; Hélène Blanché; Gilles Thomas; Thomas T Perls; Mark J Daly; Annibale Puca
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: Jeffrey R Guyon; Elena Kudryashova; Alexandra Potts; Isin Dalkilic; Melissa A Brosius; Terri G Thompson; Jacques Beckmann; Louis Kunkel; Melissa J Spencer
Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.
Muscle & nerve 2003;28(4):472-83.
2003: Paola Sebastiani; Ross Lazarus; Scott Weiss; Louis Kunkel; Isaac S Kohane; Marco F Ramoni
Minimal haplotype tagging.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(17):9900-5.
2003: Federica Montanaro; Kalliopi Liadaki; Jay Volinski; Alan Flint; Louis Kunkel
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: K J Jones; Alison G Compton; Nan Yang; M A Mills; MF Peters; D Mowat; Louis Kunkel; Stanley Froehner; Kathryn N North
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.
Neuromuscular disorders : NMD 2003;13(6):456-67.
2003: Judith N Haslett; Despina Sanoudou; Alvin T Kho; Mei Han; Richard R Bennett; Isaac S Kohane; Alan H Beggs; Louis Kunkel
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle.
Neurogenetics 2003;4(4):163-71.
2003: Ashish Nimgaonkar; Despina Sanoudou; Atul Butte; Judith N Haslett; Louis Kunkel; Alan H Beggs; Isaac S Kohane
Reproducibility of gene expression across generations of Affymetrix microarrays.
BMC bioinformatics 2003;4():27.
2003: Isin Dalkilic; Louis Kunkel
Muscular dystrophies: genes to pathogenesis.
Current opinion in genetics & development 2003;13(3):231-8.
2003: Despina Sanoudou; Judith N Haslett; Alvin T Kho; Shaoqiang Guo; Hanna T Gazda; Steven A Greenberg; Hart G W Lidov; Isaac S Kohane; Louis Kunkel; Alan H Beggs
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: Jeffrey R Guyon; A N Mosley; Yi Zhou; KF O'Brien; X Sheng; K Chiang; A J Davidson; Jay Volinski; Leonard I Zon; Louis Kunkel
The dystrophin associated protein complex in zebrafish.
Human molecular genetics 2003;12(6):601-15.
2003: Carsten G Bönnemann; Terri G Thompson; Peter F.M. van der Ven; H H Goebel; Irene A P Warlo; B Vollmers; J Reimann; J Herms; Mathias Gautel; F Takada; Alan H Beggs; Dieter O Fürst; Louis Kunkel; F Hanefeld; Rolf Schröder
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: Judith N Haslett; Despina Sanoudou; Alvin T Kho; Richard R Bennett; Steven A Greenberg; Isaac S Kohane; Alan H Beggs; Louis Kunkel
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: Steven A Greenberg; Despina Sanoudou; Judith N Haslett; Isaac S Kohane; Louis Kunkel; Alan H Beggs; Anthony A Amato
Molecular profiles of inflammatory myopathies.
Neurology 2002;59(8):1170-82.
2002: Emanuela Gussoni; Richard R Bennett; Kristina R Muskiewicz; Todd E Meyerrose; Jan A Nolta; Irene Gilgoff; James Stein; Yiu-Mo Chan; Hart G W Lidov; Carsten G Bönnemann; Arpad von Moers; Glenn E Morris; Johan T den Dunnen; Jeffrey S Chamberlain; Louis Kunkel; Kenneth Weinberg
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: Thomas T Perls; Louis Kunkel; Annibale Puca
The genetics of exceptional human longevity.
Journal of molecular neuroscience : MN 2002;19(1-2):233-8.
2002: Melissa J Spencer; Jeffrey R Guyon; Hiroyuki Sorimachi; A Potts; Isabelle Richard; M Herasse; J Chamberlain; Isin Dalkilic; Louis Kunkel; Jacques Beckmann
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: Thomas T Perls; John Wilmoth; Robin Levenson; Maureen Drinkwater; Melissa Cohen; Hazel Bogan; Erin Joyce; Stephanie J Brewster; Louis Kunkel; Annibale Puca
Life-long sustained mortality advantage of siblings of centenarians.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(12):8442-7.
2002: Judith N Haslett; Louis Kunkel
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: Thomas T Perls; Louis Kunkel; Annibale Puca
The genetics of aging.
Current opinion in genetics & development 2002;12(3):362-9.
2002: Carsten G Bönnemann; J Wong; K J Jones; Hart G W Lidov; CA Feener; Frederic Shapiro; Basil T Darras; Louis Kunkel; K N North
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile.
Neuromuscular disorders : NMD 2002;12(3):273-80.
2002: Thomas T Perls; Louis Kunkel; Annibale Puca
The genetics of exceptional human longevity.
Journal of the American Geriatrics Society 2002;50(2):359-68.
2001: KF O'Brien; Louis Kunkel
Dystrophin and muscular dystrophy: past, present, and future.
Molecular genetics and metabolism 2001;74(1-2):75-88.
2001: Annibale Puca; Mark J Daly; Stephanie J Brewster; T C Matise; J Barrett; M Shea-Drinkwater; S Kang; Erin Joyce; J Nicoli; E Benson; Louis Kunkel; Thomas T Perls
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: Yuji Mizuno; Terri G Thompson; Jeffrey R Guyon; Hart G W Lidov; Melissa A Brosius; Michihiro Imamura; E Ozawa; simon simon watkins; Louis Kunkel
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: Flavia de Paula; Mariz Vainzof; A L Bernardino; E McNally; Louis Kunkel; Mayana Zatz
Mutations in the caveolin-3 gene: When are they pathogenic?
American journal of medical genetics 2001;99(4):303-7.
2001: F Takada; D L Vander Woude; HQ Tong; Terri G Thompson; simon simon watkins; Louis Kunkel; Alan H Beggs
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: Richard R Bennett; Johan T den Dunnen; KF O'Brien; Basil T Darras; Louis Kunkel
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
BMC genetics 2001;2():17.
2001: Y Mizuno; A A Puca; KF O'Brien; A H Beggs; Louis Kunkel
Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.
BMC genetics 2001;2():8.
2001: KF O'Brien; E C Engle; Louis Kunkel
Analysis of human sarcospan as a candidate gene for CFEOM1.
BMC genetics 2001;2():3.
2001: Natasha Olby; Nicholas J H Sharp; Louise V B Anderson; Louis Kunkel; CG Bönnemann
Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.
Neuromuscular disorders : NMD 2001;11(1):41-9.
2000: Thomas T Perls; M Shea-Drinkwater; J Bowen-Flynn; S B Ridge; S Kang; Erin Joyce; M Daly; Stephanie J Brewster; Louis Kunkel; Annibale Puca
Exceptional familial clustering for extreme longevity in humans.
Journal of the American Geriatrics Society 2000;48(11):1483-5.
2000: Pervin Dinçer; C G Bönnemann; O Erdir Aker; Z Akçoren; Vincenzo Nigro; Louis Kunkel; H Topalolu
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.
Neuromuscular disorders : NMD 2000;10(4-5):247-50.
2000: A Takano; Carsten G Bönnemann; H Honda; M Sakai; CA Feener; Louis Kunkel; Gen Sobue
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations.
Muscle & nerve 2000;23(5):807-10.
2000: Joseph D Growney; JM Scharf; Louis Kunkel; William F Dietrich
Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures.
Genomics 2000;64(1):62-81.
2000: Carsten G Bönnemann; Gerald F Cox; Frederic Shapiro; J J Wu; CA Feener; Terri G Thompson; Douglas C Anthony; David R Eyre; Basil T Darras; Louis Kunkel
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: Terri G Thompson; Yiu-Mo Chan; Andrew A Hack; Melissa A Brosius; M Rajala; Hart G W Lidov; Elizabeth McNally; S Watkins; Louis Kunkel
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.
The Journal of cell biology 2000;148(1):115-26.
2000: Thomas T Perls; D F Terry; M Silver; M Shea; J Bowen; Erin Joyce; S B Ridge; RC Fretts; M Daly; Stephanie J Brewster; Annibale Puca; Louis Kunkel
Centenarians and the genetics of longevity.
Results and problems in cell differentiation 2000;29():1-20.
1999: S E Lacy; C G Bönnemann; E A Buzney; Louis Kunkel
Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins.
Genomics 1999;62(3):417-26.
1999: Emanuela Gussoni; Y Soneoka; Corinne D Strickland; E A Buzney; M K Khan; Alan F Flint; Louis Kunkel; Richard C Mulligan
Dystrophin expression in the mdx mouse restored by stem cell transplantation.
Nature 1999;401(6751):390-4.
1999: Matthew G Endrizzi; S Huang; JM Scharf; AR Kelter; Brunhilde Wirth; Louis Kunkel; W Miller; William F Dietrich
Comparative sequence analysis of the mouse and human Lgn1/SMA interval.
Genomics 1999;60(2):137-51.
1999: F von Deimling; JM Scharf; Thomas Liehr; Marcus Rothe; AR Kelter; Peter Albers; William F Dietrich; Louis Kunkel; Nicolas Wernert; Brunhilde Wirth
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: Yiu-Mo Chan; Carsten G Bönnemann; Hart G W Lidov; Louis Kunkel
Molecular organization of sarcoglycan complex in mouse myotubes in culture.
The Journal of cell biology 1998;143(7):2033-44.
1998: Hart G W Lidov; Louis Kunkel
Dystrophin and Dp140 in the adult rodent kidney.
Laboratory investigation; a journal of technical methods and pathology 1998;78(12):1543-51.
1998: MF Peters; HM Sadoulet-Puccio; M R Grady; Neal Kramarcy; Louis Kunkel; Joshua R Sanes; Robert Sealock; Stanley Froehner
Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle.
The Journal of cell biology 1998;142(5):1269-78.
1998: JM Scharf; Matthew G Endrizzi; A Wetter; S Huang; Terri G Thompson; Klaus Zerres; William F Dietrich; Brunhilde Wirth; Louis Kunkel
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.
Nature genetics 1998;20(1):83-6.
1998: Y Chan; HQ Tong; Alan H Beggs; Louis Kunkel
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: C G Bönnemann; J Wong; Christiane Ben Hamida; MB Hamida; Faycal Hentati; Louis Kunkel
LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.
Neuromuscular disorders : NMD 1998;8(3-4):193-7.
1998: Elizabeth McNally; E de Sá Moreira; David Duggan; Carsten G Bönnemann; M P Lisanti; Hart G W Lidov; Mariz Vainzof; M R Passos-Bueno; Eric Hoffman; M Zatz; Louis Kunkel
Caveolin-3 in muscular dystrophy.
Human molecular genetics 1998;7(5):871-7.
1998: Elizabeth McNally; CT Ly; Louis Kunkel
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.
FEBS letters 1998;422(1):27-32.
1997: T S Khurana; L A Specht; Alan H Beggs; Fernando M S Tomé; F Letureq; M Chevallay; P Chafey; Louis Kunkel
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: MF Peters; KF O'Brien; HM Sadoulet-Puccio; Louis Kunkel; Marvin Adams; Stanley Froehner
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: HM Sadoulet-Puccio; M Rajala; Louis Kunkel
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: Hart G W Lidov; Louis Kunkel
Dp140: alternatively spliced isoforms in brain and kidney.
Genomics 1997;45(1):132-9.
1997: Emanuela Gussoni; H M Blau; Louis Kunkel
The fate of individual myoblasts after transplantation into muscles of DMD patients.
Nature medicine 1997;3(9):970-7.
1997: Y Chan; Louis Kunkel
In vitro expressed dystrophin fragments do not associate with each other.
FEBS letters 1997;410(2-3):153-9.
1997: HM Sadoulet-Puccio; CA Feener; D J Schaid; S N Thibodeau; V V Michels; Louis Kunkel
The genomic organization of human dystrobrevin.
Neurogenetics 1997;1(1):37-42.
1997: Gerald F Cox; Louis Kunkel
Dystrophies and heart disease.
Current opinion in cardiology 1997;12(3):329-43.
1997: Ingrid A Holm; X Huang; Louis Kunkel
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
American journal of human genetics 1997;60(4):790-7.
1997: S Selig; Hart G W Lidov; S A Bruno; M M Segal; Louis Kunkel
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.
1997: T A Carter; C G Bönnemann; C H Wang; Silvana Obici; Enrico Parano; M De Fatima Bonaldo; Barbara M Ross; Graciela Penchaszadeh; A Mackenzie; MB Soares; Louis Kunkel; T Conrad Gilliam
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.
Human molecular genetics 1997;6(2):229-36.
1996: JM Scharf; D Damron; A Frisella; S Bruno; Alan H Beggs; Louis Kunkel; William F Dietrich
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: Carsten G Bönnemann; Elizabeth McNally; Louis Kunkel
Beyond dystrophin: current progress in the muscular dystrophies.
Current opinion in pediatrics 1996;8(6):569-82.
1996: Mariz Vainzof; Maria Rita Passos-Bueno; M Canovas; Eloisa S Moreira; Rita C M Pavanello; Suely K N Marie; Louise V B Anderson; C G Bonnemann; Elizabeth McNally; Vincenzo Nigro; Louis Kunkel; Mayana Zatz
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
Human molecular genetics 1996;5(12):1963-9.
1996: Carsten G Bönnemann; Maria Rita Passos-Bueno; Elizabeth McNally; Mariz Vainzof; E de Sá Moreira; Suely K N Marie; Rita C M Pavanello; Satoru Noguchi; Eijiro Ozawa; Mayana Zatz; Louis Kunkel
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: Elizabeth McNally; David Duggan; J R Gorospe; Carsten G Bönnemann; Marina Fanin; Elena Pegoraro; Hart G W Lidov; Satoru Noguchi; Eijiro Ozawa; R S Finkel; R P Cruse; Corrado Angelini; Louis Kunkel; Eric Hoffman
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.
Human molecular genetics 1996;5(11):1841-7.
1996: Elizabeth McNally; Maria Rita Passos-Bueno; Carsten G Bönnemann; Mariz Vainzof; E de Sá Moreira; Hart G W Lidov; K B Othmane; P H Denton; Jeffery Vance; Mayana Zatz; Louis Kunkel
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.
American journal of human genetics 1996;59(5):1040-7.
1996: Emanuela Gussoni; Y Wang; Cornel Fraefel; Robert G Miller; Helen M Blau; Alfred I Geller; Louis Kunkel
A method to codetect introduced genes and their products in gene therapy protocols.
Nature biotechnology 1996;14(8):1012-6.
1996: Elizabeth McNally; Carsten G Bönnemann; Louis Kunkel; S K Bhattacharya
Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy.
The New England journal of medicine 1996;334(24):1610-1.
1996: HM Sadoulet-Puccio; T S Khurana; jonathan cohen; Louis Kunkel
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: A H Ahn; C A Freener; Emanuela Gussoni; Mikiharu Yoshida; Eijiro Ozawa; Louis Kunkel
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: HM Sadoulet-Puccio; Louis Kunkel
Dystrophin and its isoforms.
Brain pathology (Zurich, Switzerland) 1996;6(1):25-35.
1995: Satoru Noguchi; Elizabeth McNally; K Ben Othmane; Y Hagiwara; Y Mizuno; Mikiharu Yoshida; H Yamamoto; Carsten G Bönnemann; Emanuela Gussoni; P H Denton; T Kyriakides; Lefkos T Middleton; Faycal Hentati; Mongi Ben Hamida; I Nonaka; Jeffery Vance; Louis Kunkel; Eijiro Ozawa
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
Science (New York, N.Y.) 1995;270(5237):819-22.
1995: A Ljunggren; David Duggan; E McNally; K B Boylan; C H Gama; Louis Kunkel; Eric Hoffman
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
Annals of neurology 1995;38(3):367-72.
1995: T S Khurana; R A Prendergast; H S Alameddine; Fernando M S Tomé; M Fardeau; K Arahata; H Sugita; Louis Kunkel
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: T J Byers; Alan H Beggs; Elizabeth McNally; Louis Kunkel
Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure.
FEBS letters 1995;368(3):500-4.
1995: S Selig; S Bruno; J M Scharf; C H Wang; E Vitale; T Conrad Gilliam; Louis Kunkel
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: Hart G W Lidov; S Selig; Louis Kunkel
Dp140: a novel 140 kDa CNS transcript from the dystrophin locus.
Human molecular genetics 1995;4(3):329-35.
1995: A H Ahn; Louis Kunkel
Syntrophin binds to an alternatively spliced exon of dystrophin.
The Journal of cell biology 1995;128(3):363-71.
1995: T S Khurana; Louis Kunkel; A D Frederickson; S Carbonetto; simon simon watkins
Interaction of chromosome-6-encoded dystrophin related protein with the extracellular matrix.
Journal of cell science 1995;108 ( Pt 1)():173-85.
1994: Elizabeth McNally; Mikiharu Yoshida; Y Mizuno; Eijiro Ozawa; Louis Kunkel
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: L L Lien; C A Feener; N Fischbach; Louis Kunkel
Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15.
Genomics 1994;22(2):273-80.
1994: A H Ahn; Mikiharu Yoshida; M S Anderson; C A Feener; S Selig; Y Hagiwara; Eijiro Ozawa; Louis Kunkel
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: T S Khurana; E C Engle; R R Bennett; Gary A Silverman; S Selig; G A Bruns; Louis Kunkel
(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein.
Human molecular genetics 1994;3(5):841.
1994: Elizabeth C Engle; Louis Kunkel; L A Specht; Alan H Beggs
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.
Nature genetics 1994;7(1):69-73.
1993: Virginia V Michels; G M Pastores; P P Moll; D J Driscoll; F A Miller; J C Burnett; R J Rodeheffer; J A Tajik; A H Beggs; Louis Kunkel
Dystrophin analysis in idiopathic dilated cardiomyopathy.
Journal of medical genetics 1993;30(11):955-7.
1993: Hart G W Lidov; T J Byers; Louis Kunkel
The distribution of dystrophin in the murine central nervous system: an immunocytochemical study.
Neuroscience 1993;54(1):167-87.
1993: T J Byers; Hart G W Lidov; Louis Kunkel
An alternative dystrophin transcript specific to peripheral nerve.
Nature genetics 1993;4(1):77-81.
1993: A H Ahn; Louis Kunkel
The structural and functional diversity of dystrophin.
Nature genetics 1993;3(4):283-91.
1992: L A Specht; Alan H Beggs; B Korf; Louis Kunkel; Frederic Shapiro
Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.
Pediatric neurology 1992;8(6):432-6.
1992: Alan H Beggs; Eric Hoffman; Louis Kunkel
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: T S Khurana; simon simon watkins; Louis Kunkel
The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain.
The Journal of cell biology 1992;119(2):357-66.
1992: Alan H Beggs; H A Phillips; H Kozman; John C Mulley; S D Wilton; Louis Kunkel; Nigel G Laing
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: M S Anderson; Louis Kunkel
The molecular and biochemical basis of Duchenne muscular dystrophy.
Trends in biochemical sciences 1992;17(8):289-92.
1992: Annie Cartaud; Marie-Aline Ludosky; Fernando M S Tomé; H Collin; F Stetzkowski-Marden; T S Khurana; Louis Kunkel; M Fardeau; Jean-Pierre Changeux; Jean Cartaud
Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata.
Neuroscience 1992;48(4):995-1003.
1992: Alan H Beggs; T J Byers; JH Knoll; F M Boyce; G A Bruns; Louis Kunkel
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: T J Byers; P E Neumann; Alan H Beggs; Louis Kunkel
ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies.
Neurology 1992;42(3 Pt 1):570-6.
1992: Nigel G Laing; B T Majda; P Anthony Akkari; M G Layton; J C Mulley; H Phillips; E A Haan; S J White; Alan H Beggs; Louis Kunkel
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.
American journal of human genetics 1992;50(3):576-83.
1992: M S Anderson; Louis Kunkel; T S Khurana
Dystrophin mRNA in lyophilized tissue.
Nature 1992;355(6363):778.
1992: Alan H Beggs; P E Neumann; K Arahata; E Arikawa; I Nonaka; M S Anderson; Louis Kunkel
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.
1992: Eric Hoffman; R H Brown; Louis Kunkel
Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987.
Biotechnology (Reading, Mass.) 1992;24():457-66.
1991: T J Byers; Louis Kunkel; simon simon watkins
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle.
The Journal of cell biology 1991;115(2):411-21.
1991: Mark I Evans; Anne E Greb; Louis Kunkel; A J Sacks; MP Johnson; Corinne D Boehm; Haig Kazazian ; Eric Hoffman
In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy.
American journal of obstetrics and gynecology 1991;165(3):728-32.
1991: L L Lien; F M Boyce; P Kleyn; Linda M Brzustowicz; J Menninger; D C Ward; T Conrad Gilliam; Louis Kunkel
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: T S Khurana; T J Byers; Louis Kunkel; S Sancho; Kurenai Tanji; Armand F Miranda
Dystrophin detection in freeze-dried tissue.
Lancet 1991;338(8764):448.
1991: Alan H Beggs; Eric Hoffman; J R Snyder; K Arahata; L Specht; Frederic Shapiro; Corrado Angelini; H Sugita; Louis Kunkel
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: C A Feener; F M Boyce; Louis Kunkel
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: F M Boyce; Alan H Beggs; C Feener; Louis Kunkel
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: F M Boyce; Alan H Beggs; Louis Kunkel
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: T S Khurana; simon simon watkins; P Chafey; Jamel Chelly; Fernando M S Tomé; M Fardeau; Jean-Claude Kaplan; Louis Kunkel
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.
Neuromuscular disorders : NMD 1991;1(3):185-94.
1990: Hart G W Lidov; T J Byers; simon simon watkins; Louis Kunkel
Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons.
Nature 1990;348(6303):725-8.
1990: Alan H Beggs; M Koenig; F M Boyce; Louis Kunkel
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
Human genetics 1990;86(1):45-8.
1990: T S Khurana; Eric Hoffman; Louis Kunkel
Identification of a chromosome 6-encoded dystrophin-related protein.
The Journal of biological chemistry 1990;265(28):16717-20.
1990: Corrado Angelini; A H Beggs; Eric Hoffman; Marina Fanin; Louis Kunkel
Enormous dystrophin in a patient with Becker muscular dystrophy.
Neurology 1990;40(5):808-12.
1990: Alan H Beggs; Louis Kunkel
A polymorphic CACA repeat in the 3' untranslated region of dystrophin.
Nucleic acids research 1990;18(7):1931.
1990: Carolyn S (Sue) Richards; simon simon watkins; Eric Hoffman; Nancy R Schneider; I W Milsark; K S Katz; J D Cook; Louis Kunkel; J M Cortada
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.
American journal of human genetics 1990;46(4):672-81.
1990: M Koenig; Louis Kunkel
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: Alan H Beggs; Louis Kunkel
Improved diagnosis of Duchenne/Becker muscular dystrophy.
The Journal of clinical investigation 1990;85(3):613-9.
1990: Louis Kunkel
The dilemma of manifesting carriers in the context of myoblast transplantation.
Advances in experimental medicine and biology 1990;280():285-6.
1989: Eric Hoffman; A H Beggs; M Koenig; Louis Kunkel; Corrado Angelini
Cross-reactive protein in Duchenne muscle.
Lancet 1989;2(8673):1211-2.
1989: J L Carpenter; Eric Hoffman; F C Romanul; Louis Kunkel; R K Rosales; N S Ma; J J Dasbach; J F Rae; F M Moore; M B McAfee
Feline muscular dystrophy with dystrophin deficiency.
The American journal of pathology 1989;135(5):909-19.
1989: simon simon watkins; Eric Hoffman; H S Slayter; Louis Kunkel
Dystrophin distribution in heterozygote MDX mice.
Muscle & nerve 1989;12(10):861-8.
1989: K Arahata; Eric Hoffman; Louis Kunkel; S Ishiura; T Tsukahara; T Ishihara; N Sunohara; I Nonaka; E Ozawa; H Sugita
Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(18):7154-8.
1989: Eric Hoffman; Louis Kunkel; Corrado Angelini; A Clarke; M Johnson; J B Harris
Improved diagnosis of Becker muscular dystrophy by dystrophin testing.
Neurology 1989;39(8):1011-7.
1989: Louis Kunkel; Eric Hoffman
Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics.
British medical bulletin 1989;45(3):630-43.
1989: Louis Kunkel; Alan H Beggs; Eric Hoffman
Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis.
Clinical chemistry 1989;35(7 Suppl):B21-4.
1989: Louis Kunkel
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: O Hurko; Eric Hoffman; L McKee; Donald R Johns; Louis Kunkel
Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier.
American journal of human genetics 1989;44(6):820-6.
1989: C A Feener; M Koenig; Louis Kunkel
Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.
Nature 1989;338(6215):509-11.
1989: S Liechti-Gallati; M Koenig; Louis Kunkel; D Frey; E Boltshauser; V Schneider; S Braga; H Moser
Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.
Human genetics 1989;81(4):343-8.
1989: Eric Hoffman; simon simon watkins; H S Slayter; Louis Kunkel
Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin.
The Journal of cell biology 1989;108(2):503-10.
1989: Terence A Partridge; J E Morgan; Gary Coulton; Eric Hoffman; Louis Kunkel
Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts.
Nature 1989;337(6203):176-9.
1989: Eric Hoffman; Louis Kunkel
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy.
Neuron 1989;2(1):1019-29.
1989: E R McCabe; Jeffrey A Towbin; J Chamberlain; Lisa Baumbach; J Witkowski; Gert-Jan B van Ommen; M Koenig; Louis Kunkel; W K Seltzer
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
The Journal of clinical investigation 1989;83(1):95-9.
1988: Eric Hoffman; Louis Kunkel; R H Brown
Proteolytic fragment or new gene product?
Nature 1988;336(6196):210.
1988: Eduardo Bonilla; C E Samitt; Armand F Miranda; Arthur P Hays; G Salviati; Salvatore DiMauro; Louis Kunkel; Eric Hoffman; Lewis P Rowland
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.
Cell 1988;54(4):447-52.
1988: Barry J Cooper; N J Winand; H Stedman; Beth A Valentine; Eric Hoffman; Louis Kunkel; M O Scott; Kenneth H Fischbeck; Joe Kornegay; Roger J Avery
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs.
Nature 1988;334(6178):154-6.
1988: Eric Hoffman; M S Hudecki; P A Rosenberg; C M Pollina; Louis Kunkel
Cell and fiber-type distribution of dystrophin.
Neuron 1988;1(5):411-20.
1988: SP Kwan; L A Sandkuyl; M Blaese; Louis Kunkel; G Bruns; R Parmley; S Skarshaug; D C Page; J Ott; F S Rosen
Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.
Genomics 1988;3(1):39-43.
1988: simon simon watkins; Eric Hoffman; H S Slayter; Louis Kunkel
Immunoelectron microscopic localization of dystrophin in myofibres.
Nature 1988;333(6176):863-6.
1988: C M Knudson; Eric Hoffman; Steven D Kahl; Louis Kunkel; Kevin P Campbell
Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle.
The Journal of biological chemistry 1988;263(17):8480-4.
1988: C J Bertelson; A Oscar Pogo; A Chaudhuri; W L Marsh; C M Redman; D Banerjee; W A Symmans; T Simon; D Frey; Louis Kunkel
Localization of the McLeod locus (XK) within Xp21 by deletion analysis.
American journal of human genetics 1988;42(5):703-11.
1988: M Koenig; Anthony P Monaco; Louis Kunkel
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Cell 1988;53(2):219-28.
1988: Margit Burmeister; Anthony P Monaco; E F Gillard; G J van Ommen; Nabeel A Affara; Malcolm A Ferguson-Smith; Louis Kunkel; Hans Lehrach
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
Genomics 1988;2(3):189-202.
1988: B T Darras; M Koenig; Louis Kunkel; U Francke
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.
American journal of medical genetics 1988;29(3):713-26.
1988: Anthony P Monaco; C J Bertelson; S Liechti-Gallati; H Moser; Louis Kunkel
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
Genomics 1988;2(1):90-5.
1988: Anthony P Monaco; Louis Kunkel
Cloning of the Duchenne/Becker muscular dystrophy locus.
Advances in human genetics 1988;17():61-98.
1987: Eric Hoffman; R H Brown; Louis Kunkel
Dystrophin: the protein product of the Duchenne muscular dystrophy locus.
Cell 1987;51(6):919-28.
1987: Eric Hoffman; C M Knudson; K P Campbell; Louis Kunkel
Subcellular fractionation of dystrophin to the triads of skeletal muscle.
Nature 1987;330(6150):754-8.
1987: Gert-Jan B van Ommen; C Bertelson; HB Ginjaar; Johan T den Dunnen; Egbert Bakker; Jamel Chelly; M Matton; Anthonie J van Essen; J Bartley; Louis Kunkel
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.
Genomics 1987;1(4):329-36.
1987: A A Lev; C C Feener; Louis Kunkel; R H Brown
Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells.
The Journal of biological chemistry 1987;262(33):15817-20.
1987: Jeffrey S Chamberlain; S G Grant; A A Reeves; L J Mullins; D A Stephenson; Eric Hoffman; Anthony P Monaco; Louis Kunkel; CT Caskey; Verne M Chapman
Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome.
Somatic cell and molecular genetics 1987;13(6):671-8.
1987: Eric Hoffman; Anthony P Monaco; C C Feener; Louis Kunkel
Conservation of the Duchenne muscular dystrophy gene in mice and humans.
Science (New York, N.Y.) 1987;238(4825):347-50.
1987: K A Hart; Anthony P Monaco; Louis Kunkel; M Bobrow
A small deletion in the Duchenne/Becker muscular dystrophy locus--a functionally important region?
Human genetics 1987;77(1):88-91.
1987: M Koenig; Eric Hoffman; C J Bertelson; Anthony P Monaco; C Feener; Louis Kunkel
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: Anthony P Monaco; C J Bertelson; C Colletti-Feener; Louis Kunkel
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.
Human genetics 1987;75(3):221-7.
1987: Y Shiloh; E Rose; C Colletti-Feener; B Korf; Louis Kunkel; S A Latt
Rapid cloning of multiple amplified nucleotide sequences from human neuroblastoma cell lines by phenol emulsion competitive DNA reassociation.
Gene 1987;51(1):53-9.
1987: Louis Kunkel; Anthony P Monaco; Eric Hoffman; M Koenig; C Feener; C Bertelson
Molecular studies of progressive muscular dystrophy (Duchenne).
Enzyme 1987;38(1-4):72-5.
1986: C J Bertelson; J A Bartley; Anthony P Monaco; C Colletti-Feener; Kenneth H Fischbeck; Louis Kunkel
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.
Journal of medical genetics 1986;23(6):531-7.
1986: G J van Ommen; J M Verkerk; M H Hofker; Anthony P Monaco; Louis Kunkel; P Ray; R Worton; B Wieringa; E Bakker; P L Pearson
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.
Cell 1986;47(4):499-504.
1986: Anthony P Monaco; R L Neve; C Colletti-Feener; C J Bertelson; D M Kurnit; Louis Kunkel
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.
Nature 1986;323(6089):646-50.
1986: U Müller; U Tantravahi; Anthony P Monaco; H Stroh; Louis Kunkel; S A Latt
Repeated DNA sequences in the distal long arm of the human X chromosome.
Human genetics 1986;74(1):24-9.
1986: Kenneth H Fischbeck; A W Ritter; D L Tirschwell; Louis Kunkel; C J Bertelson; Anthony P Monaco; J Fielding Hejtmancik; Corinne D Boehm; V Ionasescu; R Ionasescu
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.
Lancet 1986;2(8498):104.
1986: Louis Kunkel; J Fielding Hejtmancik; C T Caskey; Astrid Speer; Anthony P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; Margaret Pericak-Vance; Allen D Roses; M W Thompson; P N Ray; R G Worton; Kenneth H Fischbeck; Pía Gallano; M Coulon; C Duros; J Boue; Claudine Junien; Jamel Chelly; G Hamard; Marc Jeanpierre; M Lambert; Jean-Claude Kaplan; A Emery; H Dorkins; S McGlade; Kay E Davies; Corinne D Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; Martin Bobrow; F Benham; E Boswinkel; C Cole; Victor Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; Alessandra Ferlini; C Nobile; Giovanni Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; Charles C Searby; R Ionasescu; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson; Cheryl R Greenberg; J L Hamerton; Klaus Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; Jeffrey F Harper; B T Darras; U Francke
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1986: B Royer-Pokora; Louis Kunkel; Anthony P Monaco; S C Goff; P E Newburger; R L Baehner; F S Cole; J T Curnutte; Stuart H Orkin
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.
Nature 1986;322(6074):32-8.
1986: R L Baehner; Louis Kunkel; Anthony P Monaco; Jonathan L Haines; P M Conneally; C Palmer; N Heerema; Stuart H Orkin
DNA linkage analysis of X chromosome-linked chronic granulomatous disease.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(10):3398-401.
1986: S Hodgson; K Hart; A Walker; C Cole; L Johnson; Martin Bobrow; Victor Dubowitz; Louis Kunkel
DNA deletion in boy with Becker muscular dystrophy.
Lancet 1986;1(8486):918.
1986: Louis Kunkel; Anthony P Monaco; C J Bertelson; C A Colletti
Molecular genetics of Duchenne muscular dystrophy.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():349-51.
1986: B Royer-Pokora; Louis Kunkel; Anthony P Monaco; S C Goff; P E Newburger; R L Baehner; F S Cole; J T Curnutte; Stuart H Orkin
Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():177-83.
1985: Anthony P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; Kenneth H Fischbeck; R Bartlett; Margaret Pericak-Vance; Allen D Roses; Louis Kunkel
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
Nature 1985;316(6031):842-5.
1985: W Middlesworth; C Bertelson; Louis Kunkel
An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].
Nucleic acids research 1985;13(15):5723.
1985: Y Shiloh; N Kanda; Louis Kunkel; G Bruns; K Sakai; S A Latt
Two RFLPs identified by a human chromosome #2 clone at 2p15-2p16 (HGM8 assignment no. D2S5).
Nucleic acids research 1985;13(14):5403.
1985: Louis Kunkel; Anthony P Monaco; W Middlesworth; H D Ochs; S A Latt
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.
Proceedings of the National Academy of Sciences of the United States of America 1985;82(14):4778-82.
1985: E Bakker; M H Hofker; N Goor; J L Mandel; K Wrogemann; K E Davies; Louis Kunkel; H F Willard; W A Fenton; L Sandkuyl
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.
Lancet 1985;1(8430):655-8.
1985: B de Martinville; Louis Kunkel; G Bruns; F Morlé; M Koenig; J L Mandel; A Horwich; S A Latt; James Gusella; D Housman
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
American journal of human genetics 1985;37(2):235-49.
1985: S A Latt; M Lalande; Louis Kunkel; R Schreck; U Tantravahi
Applications of fluorescence spectroscopy to molecular cytogenetics.
Biopolymers 1985;24(1):77-95.
1985: Louis Kunkel; M Lalande; Anthony P Monaco; A Flint; W Middlesworth; S A Latt
Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci.
Gene 1985;33(3):251-8.
1985: C M Disteche; U Tantravahi; S Gandy; M Eisenhard; D Adler; Louis Kunkel
Isolation and characterization of two repetitive DNA fragments located near the centromere of the mouse X chromosome.
Cytogenetics and cell genetics 1985;39(4):262-8.
1984: S A Latt; David M Kurnit; G P Bruns; R R Schreck; C C Morton; Louis Kunkel; Marc Lalande; J Aldridge; R Neve; U Tantravahi
Molecular genetic approaches to human diseases involving mental retardation.
American journal of mental deficiency 1984;88(5):561-71.
1984: M Lalande; Louis Kunkel; A Flint; S A Latt
Development and use of metaphase chromosome flow-sorting methodology to obtain recombinant phage libraries enriched for parts of the human X chromosome.
Cytometry 1984;5(2):101-7.
1983: Louis Kunkel; U Tantravahi; David M Kurnit; M Eisenhard; G P Bruns; S A Latt
Identification and isolation of transcribed human X chromosome DNA sequences.
Nucleic acids research 1983;11(22):7961-79.
1982: D W Clough; Louis Kunkel; R L Davidson
5-Azacytidine-induced reactivation of a herpes simplex thymidine kinase gene.
Science (New York, N.Y.) 1982;216(4541):70-3.
1982: Louis Kunkel; U Tantravahi; M Eisenhard; S A Latt
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.
Nucleic acids research 1982;10(5):1557-78.
1982: C M Disteche; Louis Kunkel; A Lojewski; Stuart H Orkin; M Eisenhard; E Sahar; B Travis; S A Latt
Isolation of mouse x-chromosome specific DNA from an x-enriched lambda phage library derived from flow sorted chromosomes.
Cytometry 1982;2(5):282-6.
1982: Louis Kunkel; Kirby D Smith
Evolution of human Y-chromosome DNA.
Chromosoma 1982;86(2):209-28.
1979: Louis Kunkel; M Silberklang; B J McCarthy
A third restriction endonuclease from Xanthomonas malvacearum.
Journal of molecular biology 1979;132(1):133-9.
1979: Louis Kunkel; Kirby D Smith; S H Boyer
Organization and heterogeneity of sequences within a repeating unit of human Y chromosome deoxyribonucleic acid.
Biochemistry 1979;18(15):3343-53.
1978: S H Boyer; Alan F Scott; Louis Kunkel; Kirby D Smith
The proportion of all point mutations which are unacceptable: an estimate based on hemoglobin amino acid and nucleotide sequences.
Canadian journal of genetics and cytology. Journal canadien de génétique et de cytologie 1978;20(1):111-37.
1977: Louis Kunkel; Kirby D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; HOWARD JONES; J M Rary
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.
Proceedings of the National Academy of Sciences of the United States of America 1977;74(3):1245-9.
1976: Louis Kunkel; Kirby D Smith; S H Boyer
Human Y-chromosome-specific reiterated DNA.
Science (New York, N.Y.) 1976;191(4232):1189-90.
1976: Kirby D Smith; Louis Kunkel; S H Boyer
Isolation and uses of chromosome-specific reiterated DNA.
Cytogenetics and cell genetics 1976;16(1-5):401-4.
1976: Kirby D Smith; Louis Kunkel; S H Boyer
Isolation and uses of chromosome-specific reiterated DNA.
Birth defects original article series 1976;12(7):401-4.
1975: P G Heltne; Louis Kunkel
Taxonomic notes on the pelage of Ateles paniscus paniscus, A. p. chamek (sensu Kellogg and Goldman, 1944) and A. fusciceps rufiventris (equals A. f. robustus, Kellogg and Goldman, 1944).
Journal of medical primatology 1975;4(2):83-102.
1973: D S Borgaonkar; W B Bias; G A Chase; G Sadasivan; H M Herr; H M Golomb; G F Bahr; Louis Kunkel
Identification of a C6-G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus.
Clinical genetics 1973;4(1):53-7.