List of works - Kevin M. Flanigan

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

article

A comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle

scientific article

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

scientific article

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.

scientific article published on 21 March 2009

A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.

scientific article

A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy

scientific article

Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy

scientific article

Age-related biology and diseases of muscle and nerve

scientific article published on 01 August 1998

An unusual pathologic feature associated with dermatomyositis

scientific article

Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect

scientific article published on September 2013

Ataluren treatment of patients with nonsense mutation dystrophinopathy

scientific article

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

scientific article

Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene ⬇️

scientific article published on November 1, 2011

Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2.

scientific article published on 29 January 2013

Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy

scientific article

Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies

scientific article published on 05 January 2012

Cardiac management in neuromuscular diseases.

scientific article

Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy.

scientific article published in January 2003

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene

scientific article published on 01 July 2005

Clinical and genetic characterization of manifesting carriers of DMD mutations

scientific article

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

scientific article

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up

scientific article

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

scientific article published on 29 January 2009

Correlation of knee strength to functional outcomes in Becker muscular dystrophy

scientific article published on 5 March 2013

Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

article

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

scientific article published on April 2009

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

scientific article published on 01 January 2008

Dexmedetomidine and ketamine sedation for muscle biopsies in patients with Duchenne muscular dystrophy

scientific article published on 20 March 2014

Diabetic myonecrosis in a cystic fibrosis patient.

scientific article published on 29 January 2013

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

scientific article

Duchenne and Becker muscular dystrophies.

scientific article published on August 2014

Duchenne muscular dystrophy: meeting the therapeutic challenge

scientific article published in July 2016

Duplications in the DMD gene

scientific article published on 01 September 2006

Dystrophin as a therapeutic biomarker: are we ignoring data from the past?

scientific article

Dystrophin quantification: Biological and translational research implications

scientific article

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

scientific article published on March 2016

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

scientific article

Effects of angiotensin-converting enzyme inhibitors and/or beta blockers on the cardiomyopathy in Duchenne muscular dystrophy

scientific article

Erratum: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

article

Eteplirsen for the treatment of Duchenne muscular dystrophy

scientific article published on 10 September 2013

Evidence-based path to newborn screening for Duchenne muscular dystrophy

scientific article published on 01 March 2012

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

scientific article

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

scientific article

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

scientific article published on 12 March 2010

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

scientific article

Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates

scientific article published on 10 April 2014

Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy

scientific article published on 01 September 2001

Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

scientific article published on 20 April 2015

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy

scientific article published in June 2010

How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration

scientific article published on 24 June 2015

Identification of new dystroglycan complexes in skeletal muscle

scientific article (publication date: 2013)

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

scientific article published on 01 April 2005

Knee extensor strength exhibits potential to predict function in sporadic inclusion‐body myositis ⬇️

scientific article published on February 1, 2012

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy

scientific article

Late-onset hereditary axonal neuropathies

scientific article published on 21 May 2008

Localization of the giant axonal neuropathy gene to chromosome 16q24.

scientific article

McArdle's disease presenting as recurrent cryptogenic renal failure due to occult seizures

scientific article published on 01 November 2003

Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations

scientific article published on 26 January 2008

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

scientific article published on 28 May 2013

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

scientific article published on 01 April 2005

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

scientific article

Neurology Academic Advisory Committee: a strategy for faculty retention and advancement

scientific article

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

scientific article

One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development

scientific article

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy

scientific article

Paraneoplastic myopathy: response to intravenous immunoglobulin

scientific article published on 01 March 2007

Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trial

scientific article published on 11 September 2013

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy

scientific article

Precordial R wave height does not correlate with echocardiographic findings in boys with Duchenne muscular dystrophy

scientific article

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

scientific article published in June 2004

Proof of concept of the ability of the kinect to quantify upper extremity function in dystrophinopathy

scientific article

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

scientific article

Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens

scientific article published in October 2012

RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.

scientific article

Rapid direct sequence analysis of the dystrophin gene

scientific article

Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons.

scientific article

Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease

scientific article published on 27 January 2014

Reliability and validity of active-seated: An outcome in dystrophinopathy.

scientific article published on 30 December 2014

Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure

Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy

scientific article published on 01 February 2006

Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle

scientific journal article

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

scientific article published on 29 October 2009

Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.

scientific article

Targeted exon skipping to correct exon duplications in the dystrophin gene.

scientific article published on 18 March 2014

The 2-min walk test is sufficient for evaluating walking abilities in sporadic inclusion body myositis.

scientific article published in December 2013

The Muscular Dystrophies ⬇️

scientific article published on November 1, 2012

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

scientific article published on 26 August 2013

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

scientific article

The ZZ domain of dystrophin in DMD: making sense of missense mutations.

scientific article

The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development

scientific article

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

scientific article

Visual diagnosis: chest pain in a boy with duchenne muscular dystrophy and cardiomyopathy

scientific article published in December 2014

List of works by Kevin M. Flanigan

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

A comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.

A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.

A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy

Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy

Age-related biology and diseases of muscle and nerve

An unusual pathologic feature associated with dermatomyositis

Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect

Ataluren treatment of patients with nonsense mutation dystrophinopathy

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene ⬇️

Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2.

Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy

Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies

Cardiac management in neuromuscular diseases.

Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy.

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene

Clinical and genetic characterization of manifesting carriers of DMD mutations

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

Correlation of knee strength to functional outcomes in Becker muscular dystrophy

Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

Dexmedetomidine and ketamine sedation for muscle biopsies in patients with Duchenne muscular dystrophy

Diabetic myonecrosis in a cystic fibrosis patient.

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

Duchenne and Becker muscular dystrophies.

Duchenne muscular dystrophy: meeting the therapeutic challenge

Duplications in the DMD gene

Dystrophin as a therapeutic biomarker: are we ignoring data from the past?

Dystrophin quantification: Biological and translational research implications

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

Effects of angiotensin-converting enzyme inhibitors and/or beta blockers on the cardiomyopathy in Duchenne muscular dystrophy

Erratum: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

Eteplirsen for the treatment of Duchenne muscular dystrophy

Evidence-based path to newborn screening for Duchenne muscular dystrophy

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates

Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy

Genetics and emerging treatments for Duchenne and Becker muscular dystrophy.

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy

How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration

Identification of new dystroglycan complexes in skeletal muscle

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

Knee extensor strength exhibits potential to predict function in sporadic inclusion‐body myositis ⬇️

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy

Late-onset hereditary axonal neuropathies

Localization of the giant axonal neuropathy gene to chromosome 16q24.

McArdle's disease presenting as recurrent cryptogenic renal failure due to occult seizures

Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Neurology Academic Advisory Committee: a strategy for faculty retention and advancement

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development

Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy

Paraneoplastic myopathy: response to intravenous immunoglobulin

Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trial

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy

Precordial R wave height does not correlate with echocardiographic findings in boys with Duchenne muscular dystrophy

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

Proof of concept of the ability of the kinect to quantify upper extremity function in dystrophinopathy

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens

RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.

Rapid direct sequence analysis of the dystrophin gene

Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons.

Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease

Reliability and validity of active-seated: An outcome in dystrophinopathy.

Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure