Louis M. Kunkel

Q: What Schools Are Affiliated With Louis M. Kunkel

Louis M. Kunkel is affiliated with the following schools: Yale University, University of Tokyo, University of Massachusetts Medical School, Johns Hopkins University, University of Washington, Pontifical Catholic University of Chile, Harvard University

Louis M. Kunkel's AcademicInfluence.com Rankings

Louis M. Kunkel

Biology

#1774

World Rank

#2886

Historical Rank

#849

USA Rank

Genetics

#387

World Rank

#450

Historical Rank

#167

USA Rank

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Biology

Why Is Louis M. Kunkel Influential?

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According to Wikipedia, Louis Martens Kunkel is an American geneticist and member of the National Academy of Sciences . His father and grandfather were also scientists and NAS members. Kunkel came from a Lutheran background and attended Lutheran schools in youth. He later graduated from Gettysburg College in 1971. He obtained his PhD from Johns Hopkins University. He is noted for discovering dystrophin, which is relevant to muscular dystrophy research.

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Louis M. Kunkel's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Dystrophin: The protein product of the duchenne muscular dystrophy locus (1987) (4384)
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals (1987) (2306)
Dystrophin expression in the mdx mouse restored by stem cell transplantation (1999) (1901)
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein (1988) (1512)
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. (1977) (1346)
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. (1988) (1133)
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene (1986) (1004)
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. (1989) (969)
Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts (1989) (892)
Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location (1986) (774)
The structural and functional diversity of dystrophin (1993) (636)
Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface (1988) (604)
Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. (2007) (579)
Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy (1995) (489)
The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders (2012) (466)
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy (1986) (465)
β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex (1995) (454)
Immunoelectron microscopic localization of dystrophin in myofibres (1988) (439)
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. (1985) (434)
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs (1988) (430)
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. (1991) (420)
Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons (1990) (408)
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment (1985) (392)
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction (1990) (384)
Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. (1990) (377)
Distinctive patterns of microRNA expression in primary muscular disorders (2007) (357)
Life-long sustained mortality advantage of siblings of centenarians (2002) (350)
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle (2002) (341)
The fate of individual myoblasts after transplantation into muscles of DMD patients (1997) (327)
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy (1989) (325)
A strategy to reveal high-frequency RFLPs along the human X chromosome. (1984) (319)
Effects of RAS on the genesis of embryonal rhabdomyosarcoma. (2007) (319)
Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus (1989) (318)
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. (1992) (310)
Filamin 2 (FLN2): A Muscle-specific Sarcoglycan Interacting Protein (2000) (306)
A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4 (2001) (304)
Subcellular fractionation of dystrophin to the triads of skeletal muscle (1987) (296)
An alternative dystrophin transcript specific to peripheral nerve (1993) (290)
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle (1991) (285)
Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. (1995) (268)
Improved diagnosis of Becker muscular dystrophy by dystrophin testing (1989) (261)
Dystrophies and heart disease. (1997) (251)
Conservation of the Duchenne muscular dystrophy gene in mice and humans. (1987) (246)
The Pathogenesis and Therapy of Muscular Dystrophies. (2015) (238)
PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs (1985) (233)
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle (1991) (233)
Caveolin-3 in muscular dystrophy. (1998) (222)
Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. (2002) (217)
Syntrophin binds to an alternatively spliced exon of dystrophin (1995) (213)
Somitic origin of limb muscle satellite and side population cells. (2006) (212)
Cellular and molecular mechanisms underlying muscular dystrophy (2013) (212)
Muscular dystrophies: genes to pathogenesis. (2003) (210)
Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. (1997) (208)
Identification of a chromosome 6-encoded dystrophin-related protein. (1990) (204)
Cell and fiber type distribution of dystrophin (1988) (202)
Molecular profiles of inflammatory myopathies (2002) (199)
Expression profiling and identification of novel genes involved in myogenic differentiation (2004) (194)
Dystrophin is transcribed in brain from a distant upstream promoter. (1991) (186)
Minimal haplotype tagging (2003) (183)
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. (1996) (182)
The Three Human Syntrophin Genes Are Expressed in Diverse Tissues, Have Distinct Chromosomal Locations, and Each Bind to Dystrophin and Its Relatives (*) (1996) (180)
Feline muscular dystrophy with dystrophin deficiency. (1989) (180)
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. (1996) (170)
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. (1982) (168)
Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters. (2004) (166)
Drug screening in a zebrafish model of Duchenne muscular dystrophy (2011) (163)
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. (2012) (162)
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency (2015) (158)
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. (1990) (157)
Loss of FilaminC (FLNc) Results in Severe Defects in Myogenesis and Myotube Structure (2006) (156)
The distribution of dystrophin in the murine central nervous system: An immunocytochemical study (1993) (155)
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. (1997) (155)
Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells. (2004) (151)
Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan (2003) (149)
Desmuslin, an intermediate filament protein that interacts with α-dystrobrevin and desmin (2001) (147)
Correction for Eisenberg et al., Distinctive patterns of microRNA expression in primary muscular disorders (2008) (147)
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome (1986) (147)
Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders (2012) (145)
Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene. (1991) (144)
Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. (1996) (143)
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics (1998) (141)
Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. (2001) (139)
Differential Membrane Localization and Intermolecular Associations of α-Dystrobrevin Isoforms in Skeletal Muscle (1998) (139)
Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy (1996) (137)
Human ϵ‐sarcoglycan is highly related to α‐sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene 1 (1998) (133)
Dystrophin Is a Tumor Suppressor in Human Cancers with Myogenic Programs (2014) (131)
Myozenin: An α-actinin- and γ-filamin-binding protein of skeletal muscle Z lines (2001) (131)
Molecular Organization of Sarcoglycan Complex in Mouse Myotubes in Culture (1998) (129)
Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24. (1994) (125)
MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation (2013) (124)
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (1996) (124)
5-Azacytidine-induced reactivation of a herpes simplex thymidine kinase gene. (1982) (123)
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype (2015) (120)
Exceptional Familial Clustering for Extreme Longevity in Humans (2000) (120)
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms. (2014) (120)
Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. (1986) (118)
Dystrophin and muscular dystrophy: past, present, and future. (2001) (114)
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. (2000) (113)
Modeling human muscle disease in zebrafish. (2007) (113)
beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. (1997) (113)
miRNAS in normal and diseased skeletal muscle (2008) (113)
Reestablishing the Researcher-Patient Compact (2007) (111)
Identification of FLRT1, FLRT2, and FLRT3: a novel family of transmembrane leucine-rich repeat proteins. (1999) (109)
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. (1986) (108)
Dystrophin and Its Isoforms (1996) (106)
Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis (2013) (104)
Human Y-chromosome-specific reiterated DNA. (1976) (101)
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. (2011) (101)
The CoMorbidity Burden of Children and Young Adults with Autism Spectrum Disorders (2012) (100)
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12 (1994) (98)
The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain (1992) (98)
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing (2001) (98)
The dystrophin associated protein complex in zebrafish. (2003) (98)
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. (1988) (98)
A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion (2009) (94)
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). (2014) (93)
Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location. (1986) (93)
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 (2002) (93)
Localization of the McLeod locus (XK) within Xp21 by deletion analysis. (1988) (92)
A giant locus for the Duchenne and Becker muscular dystrophy gene (1987) (92)
The genetics of exceptional human longevity (2002) (91)
Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin. (2001) (89)
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. (1994) (88)
A polymorphic CACA repeat in the 3' untranslated region of dystrophin. (1990) (88)
The Genetics of Exceptional Human Longevity (2002) (88)
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle (2003) (88)
Reproducibility of gene expression across generations of Affymetrix microarrays (2003) (87)
Beyond dystrophin: current progress in the muscular dystrophies. (1996) (85)
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. (1985) (85)
Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy (1991) (85)
Expression of the Duchenne's muscular dystrophy gene in cultured muscle cells. (1987) (84)
Skeletal muscle engraftment potential of adult mouse skin side population cells (2003) (83)
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers (2012) (83)
A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish (2012) (83)
Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987. (1992) (82)
CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. (2016) (80)
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. (1988) (77)
Muscle engraftment of myogenic progenitor cells following intraarterial transplantation (2006) (77)
Regulation of DMD pathology by an ankyrin-encoded miRNA (2011) (77)
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle (2003) (76)
Zebrafish models for human FKRP muscular dystrophies (2009) (73)
Cloning of the Duchenne/Becker muscular dystrophy locus. (1988) (71)
Human Skeletal Muscle-Specific α-Actinin-2 and -3 Isoforms Form Homodimers and Heterodimersin Vitroandin Vivo (1998) (70)
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores (2012) (70)
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. (1987) (69)
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. (1992) (69)
The molecular and biochemical basis of Duchenne muscular dystrophy. (1992) (69)
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. (1996) (68)
Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. (2009) (66)
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. (2013) (66)
Zebrafish orthologs of human muscular dystrophy genes (2007) (65)
Specific assembly pathway of sarcoglycans is dependent on beta‐ and delta‐sarcoglycan (2004) (64)
Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle. (1988) (63)
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States (2016) (63)
Improved diagnosis of Duchenne/Becker muscular dystrophy. (1990) (63)
Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans. (2003) (62)
The zebrafish runzel muscular dystrophy is linked to the titin gene. (2007) (59)
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. (1997) (59)
Dystrophin distribution in heterozygote mdx mice (1989) (58)
Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers. (1988) (57)
A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function (2011) (56)
Comparative RNA Editing in Autistic and Neurotypical Cerebella (2012) (56)
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. (1989) (55)
Human skeletal muscle xenograft as a new preclinical model for muscle disorders. (2014) (54)
Cloning of the DMD Gene (2005) (53)
Medicine. Reestablishing the researcher-patient compact. (2007) (53)
Calpain 3 cleaves filamin C and regulates its ability to interact with γ‐ and δ‐sarcoglycans (2003) (51)
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. (1995) (51)
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin (1995) (50)
Isolation and characterization of two repetitive DNA fragments located near the centromere of the mouse X chromosome. (1985) (49)
RECOMBINATION WITH PERT87 (DXS164) IN FAMILIES WITH X-LINKED MUSCULAR DYSTROPHY (1986) (49)
Mapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13. (1991) (48)
Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor. (2011) (47)
A method to codetect introduced genes and their products in gene therapy protocols (1996) (47)
Isolation of mouse x-chromosome specific DNA from an x-enriched lambda phage library derived from flow sorted chromosomes. (2005) (47)
Delta-sarcoglycan is required for early zebrafish muscle organization. (2005) (47)
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers (2009) (47)
An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143]. (1985) (46)
Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin (1989) (45)
Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure (1995) (45)
Microarray analysis of normal and dystrophic skeletal muscle (2002) (45)
Emerging preclinical animal models for FSHD. (2015) (45)
CROSS-REACTIVE PROTEIN IN DUCHENNE MUSCLE (1989) (44)
Development and use of metaphase chromosome flow-sorting methodology to obtain recombinant phage libraries enriched for parts of the human X chromosome. (1984) (43)
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. (2012) (43)
The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. (1996) (43)
Mutations in the caveolin-3 gene: When are they pathogenic? (2001) (43)
Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome (1987) (43)
Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics. (1989) (42)
Molecular deletion patterns in Duchenne and Becker type muscular dystrophy (1989) (42)
Molecular heterogeneity of translocations associated with muscular dystrophy (1987) (42)
2004 William Allan Award address. Cloning of the DMD gene. (2005) (42)
Dp140: alternatively spliced isoforms in brain and kidney. (1997) (42)
Cloning of human microtubule-associated protein 1B and the identification of a related gene on chromosome 15. (1994) (41)
Diagnosis and cell-based therapy for Duchenne muscular dystrophy in humans, mice, and zebrafish (2006) (41)
Comparative sequence analysis of the mouse and human Lgn1/SMA interval. (1999) (41)
Organization and heterogeneity of sequences within a repeating unit of human Y chromosome deoxyribonucleic acid. (1979) (41)
Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases (2016) (40)
Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers. (2005) (39)
The influence of muscle type and dystrophin deficiency on murine expression profiles (2005) (39)
Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. (1989) (38)
Enormous dystrophin in a patient with Becker muscular dystrophy (1990) (38)
Transcriptional profile of postmortem skeletal muscle. (2004) (38)
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families. (1986) (37)
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy (1987) (37)
α‐Actinin‐2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α‐actinin‐3 revealing functional differences between sarcomeric isoforms (2012) (36)
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy (2020) (36)
Zebrafish based small molecule screens for novel DMD drugs. (2013) (36)
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings (2013) (35)
Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. (2014) (34)
Identification of a novel microRNA that regulates the proliferation and differentiation in muscle side population cells. (2012) (34)
CXCR4 enhances engraftment of muscle progenitor cells (2009) (33)
Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. (1998) (33)
Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci. (1985) (33)
Identification and isolation of transcribed human X chromosome DNA sequences. (1983) (33)
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2 (2013) (32)
The genetics of aging. (2002) (31)
Variations in gene expression among different types of human skeletal muscle (2005) (31)
β4 Integrin Marks Interstitial Myogenic Progenitor Cells in Adult Murine Skeletal Muscle (2012) (31)
Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy (2016) (30)
LGMD2I in a North American population (2007) (30)
Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype (2015) (30)
LGMD 2E in Tunisia is caused by a homozygous missense mutation in β-sarcoglycan exon 3 (1998) (30)
A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5 (2010) (29)
Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma (1999) (29)
Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier. (1989) (29)
β‐synemin localizes to regions of high stress in human skeletal myofibers (2004) (29)
In vitro expressed dystrophin fragments do not associate with each other (1997) (28)
Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation (2008) (28)
Transcriptome-scale similarities between mouse and human skeletal muscles with normal and myopathic phenotypes (2006) (28)
Congenital myasthenic syndrome with episodic apnea. (2009) (28)
The genomic organization of human dystrobrevin (1997) (27)
Evolutionary divergence of the mouse and human Lgn1/SMA repeat structures. (2000) (27)
High-Density Genomewide Linkage Analysis of Exceptional Human Longevity Identifies Multiple Novel Loci (2010) (27)
In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. (1991) (27)
Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy (2017) (26)
Interaction of chromosome-6-encoded dystrophin related protein with the extracellular matrix. (1995) (25)
Accurate and superaccurate gene mapping. (1985) (25)
Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. (2016) (24)
Dystrophin analysis in idiopathic dilated cardiomyopathy. (1993) (24)
Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin. (1997) (22)
Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease (2019) (22)
Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy (2004) (21)
Fam65b is important for formation of the HDAC6‐dysferlin protein complex during myogenic cell differentiation (2014) (21)
Erratum: β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex (Nature Genetics (1995) 11 266-273)) (1996) (21)
Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3 (2001) (21)
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis (2014) (21)
Dystrophin and Dp140 in the adult rodent kidney. (1998) (20)
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy (2010) (20)
Characterization of zebrafish dysferlin by morpholino knockdown. (2011) (20)
Evaluation of the dystrophin–glycoprotein complex, α-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers (2001) (18)
Rapid cloning of multiple amplified nucleotide sequences from human neuroblastoma cell lines by phenol emulsion competitive DNA reassociation. (1987) (18)
Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens (2019) (17)
Human Skeletal Muscle-Specific a-Actinin-2 and-3 Isoforms Form Homodimers and Heterodimers in Vitro and in Vivo (1998) (17)
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE (2011) (17)
Centenarians and the genetics of longevity. (2000) (17)
ISOLATION AND TRANSCRIPTOME ANALYSIS OF ADULT ZEBRAFISH CELLS ENRICHED FOR SKELETAL MUSCLE PROGENITORS (2011) (16)
ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies (1992) (16)
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy (2010) (16)
Molecular studies of progressive muscular dystrophy (Duchenne). (1987) (16)
POLRMT mutations impair mitochondrial transcription causing neurological disease (2021) (15)
(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein. (1994) (15)
Deficiency of adhalin in a patient with muscular dystrophy and cardiomyopathy. (1996) (14)
The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice (2019) (14)
Evolution of human Y-chromosome DNA (1982) (13)
Proteolytic fragment or new gene product? (1988) (13)
Duchenne muscular dystrophy (Oxford monographs on medical genetics, Vol. 15) (revised edn): A.E.H. Emery, Oxford University Press, 1988. £17.50 (xv + 317 pages) ISBN 0 19 261798 2 (1989) (13)
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes (2009) (13)
A third restriction endonuclease from Xanthomonas malvacearum. (1979) (13)
Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression (2004) (13)
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. (2018) (13)
Homozygous nonsense mutation in SGCA is a common cause of limb‐girdle muscular dystrophy in Assiut, Egypt (2016) (12)
Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy. (1992) (11)
Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis (2018) (11)
Molecular genetics of Duchenne muscular dystrophy. (1986) (11)
The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. (2018) (11)
Analysis of human sarcospan as a candidate gene for CFEOM1 (2001) (10)
Genome gender diversity in affected sib‐pairs with familial vesico‐ureteric reflux identified by single nucleotide polymorphism linkage analysis (2012) (10)
The Wellcome Lecture, 1988 - Muscular dystrophy: a time of hope (1989) (9)
Chromosomal variation and zoogeography inAteles (1980) (9)
A novel mutation in two families with limb-girdle muscular dystrophy type 2C (2006) (9)
A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1. (1992) (9)
The proportion of all point mutations which are unacceptable: an estimate based on hemoglobin amino acid and nucleotide sequences. (1978) (9)
Further linkage studies between retinoschisis and cloned dna sequences from the distal xp (1985) (9)
Synemin expression in brain (2007) (9)
An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish (2018) (9)
Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions. (1992) (8)
Two RFLPs identified by a human chromosome #2 clone at 2p15-2p16 (HGM8 assignment no. D2S5). (1985) (8)
Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". (2009) (8)
DNA DELETION IN BOY WITH BECKER MUSCULAR DYSTROPHY (1986) (7)
The molecular genetics of muscular dystrophy (2000) (7)
β-Dystrobrevin, a New Member of the Dystrophin Family (1997) (7)
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics (2015) (7)
Chapter 30 – Dystrophinopathies (2015) (7)
A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. (2000) (7)
Applications of fluorescence spectroscopy to molecular cytogenetics (1985) (6)
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites (2019) (6)
Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center (2004) (6)
Genetic analysis of Duchenne dystrophy. (1985) (6)
Expression of synemin in the mouse spinal cord (2009) (5)
Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. (1999) (5)
Skeletal muscle regeneration and muscle progenitor cells (2012) (5)
Isolation and uses of chromosome-specific reiterated DNA. (1976) (4)
PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA (2020) (4)
hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies (2021) (4)
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. (2018) (4)
303: Single Nucleotide Polymorphism (SNP) Analysis of Autosomal Dominant Interstitial Cystitis: A Family-Based Study (2005) (3)
15 – Metaphase Chromosome Flow Sorting and Cloning; Rationale, Approaches and Applications (1989) (3)
Zebrafish based small molecule screens for novel DMD drugs. (2013) (3)
Repeated DNA sequences in the distal long arm of the human X chromosome (1986) (3)
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype (2022) (3)
Beta-synemin expression in cardiotoxin-injected rat skeletal muscle (2007) (3)
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy (2022) (2)
Effect of serotonin modulation on dystrophin-deficient zebrafish. (2020) (2)
Dystrophin mRNA in lyophilized tissue (1992) (2)
Human adhalin is alternatively spliced and the gene is located on chromosome 17 q 21 ( musular dystrophy / dystrophin / dystrophn-ated protein ) (2)
Adhalin, the 50 kD dystrophin associated protein, is not the locus for severe childhood autosomal recessive dystrophy (SCARMD) (1994) (2)
To dystrophin and beyond: an interview with Louis Kunkel (2019) (2)
Genes and Centenarians (2001) (1)
CME Molecular profiles of inflammatory myopathies (2002) (1)
Molecular genetic approaches to human diseases involving mental retardation. (1984) (1)
LGMD 2E in Tunisia is caused by a missense mutation Arg91Leu in β-sarcoglycan (1997) (1)
Construction of an x-enriched lambda phage library from sorted mouse chromosomes. Abstr. (1981) (1)
Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations (2022) (1)
α SARCOGLYCAN DEFICIENCY, TWO NOVEL MUTATIONS (1997) (1)
Muscular dystrophy research: what have we learned and where do we go from here? (1991) (1)
Genomic organization and single-nucleotide polymorphism map of desmuslin , a novel intermediate filament protein on chromosome 15 q 26 . 3 (2001) (1)
Localization of DNA Sequences in Region Xp2 1 of the Human X Chromosome: Search for Molecular Markers (2006) (1)
Dystrophin analysis inidiopathic dilated cardiomyopathy (1993) (1)
Effect of serotonin modulation on dystrophin-deficient zebrafish (2020) (1)
A case of congenital myasthenic syndrome with episodic apnea (2009) (0)
FP.36 Genetic variants in DTNA cause a mild dominantly inherited muscular dystrophy (2022) (0)
The giant Duchenne muscular dystrophy gene and its protein product (1988) (0)
Molecular genetic analysis of individuals with Williams syndrome and supravalvar aortic stenosis (1994) (0)
Founder Mutation In The γ-Sarcoglycan Gene Causes Milder Phenotype Of Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C) in the Hispanic Population of Puerto Rico (S46.002) (2014) (0)
Role of intestinal gene expression profiles in the diagnosis of Inflammatory Bowel Disease: P-174. (2011) (0)
P1.51 Exon-level expression profiling in FSHD (2010) (0)
Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations (2022) (0)
What Does the Cloning of Dystrophin Mean (1989) (0)
The dilemma of manifesting carriers in the context of myoblast transplantation. (1990) (0)
A-to-I RNA editing in autism spectrum disorder (2014) (0)
Cloning of a novel human nonmuscle alpha-actinin gene and characterization of alpha-actinin expression in nemaline rod myopathy (NRM) (1994) (0)
Subject Index Vol. 39, 1985 (1985) (0)
Duchenne And Becker Muscular Dystrophies (2005) (0)
IMMUNOCYTOCHEMISTRY IN LIMB-GIRDLE DYSTROPHY WITH IDENTIFIED SARCOGLYCAN MUTATIONS (1998) (0)
FIFTH INTERNATIONAL CONGRESS OF HUMAN GENETICS (1976) (0)
Biochemical/molecular/clinical correlations in sarcoglycan complex disorders (1996) (0)
Congenital fibrosis of the extraocular muscles maps to the centromeric region of human chromosome 12 in multiple families (1994) (0)
A small deletion in the Duchenne/Becker muscular dystrophy locus —a functionally important region? (1987) (0)
P3.21 Expression of microRNA in muscle resident stem cells (2010) (0)
Losartan improves muscle strength and ameliorates fibrosis in the dy 2 J / dy 2 J mouse model of merosin deficient congenital muscular dystrophy (2010) (0)
Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. (2015) (0)
Corrigendum: β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex (1996) (0)
Assignment of Nemaline Myopathy (Mim 161800, Nem1) to Chromosome-1 (1991) (0)
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort (2022) (0)
Rare known pathogenic variants for urogenital disorders in 129 exome patients with interstitial cystitis/bladder pain syndrome (2021) (0)
Mutation Detection in β- and γ-Sarcoglycan (LGMD2E and LGMD2C) (2001) (0)
ConneCting the Community of patients, families, CliniCians and investigators (2015) (0)
Analysis of Myogenic and Candidate Disease Biomarkers in FSHD Muscle Cells (2013) (0)
Construction analysis and utilization of recombinant phage libraries enriched for the human x chromosome by fluorescence activated flow sorting (1983) (0)
Isolation and uses of chromosome-specific reiterated DNA. (1976) (0)
Isolation of coding sequences and evaluation of candidate genes for spinal muscular atrophy (1994) (0)
Localization ofDNA Sequences inRegionXp21ofthe HumanX Chromosome: SearchforMolecular Markers ClosetotheDuchenneMuscular Dystrophy Locus (1985) (0)
D.P.1.03 Trying to understand the clinical variability in FSHD (2008) (0)
The sarcoglycan complex in autosomal recessive muscular dystrophy-LGMD2C (1996) (0)
P3.50 Therapeutic drug screen using dystrophin deficient zebrafish (2010) (0)
muscle dysfunction receptor/Fc fusion protein improves hypoxia-induced Pretreatment with a soluble activin type IIB (2011) (0)
Probe and procedure for diagnosis of muscular dystrophy (1989) (0)
Genetic Heterogeneity in Duchenne Dystrophy (1987) (0)
A gene in the region of the autosomal dominant torsion dystonia locus on 9q34 contains SH3 signal transduction and binding motifs (1994) (0)
Subject Index Vol. 16, 1976 (1976) (0)
Assignment ofa Gene(NEMI)forAutosomalDominant NemalineMyopathytoChromosomeI (1992) (0)
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores (2012) (0)
Characterization of a novel chromosome 5 neural cadherin exhibiting an unusual genomic organization (1994) (0)
Reflections on Henry Kunkel outside the laboratory. (2016) (0)
Nucleic Acids Research (0)
Sorting, cloning and analysis of specific human chromosomes (1984) (0)
C.P.3.01 LGMD2I in a North American population (2007) (0)
Developmental expression of syntrophin and dystrobrevin in human skeletal muscle (2002) (0)
Cellular Mediated Delivery: The Intersection Between Regenerative Medicine and Genetic Therapy (2006) (0)
Genomic Organization and Single-Nucleotide Polymorphism Map of Desmuslin , a Novel Intermediate Filament Protein on Chromosome (2001) (0)

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