Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Unnikrishnan G et al.
Journal of Neuromuscular Diseases, 2023
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Esapa CT et al.
Frontiers in Molecular Biosciences, 2023
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
FKRP directed fibronectin glycosylation: A novel mechanism giving insights into muscular dystrophies?
Boyd A et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022
Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.
Mohamadian M et al.
Journal of Molecular Neuroscience : Mn, 2022
Fukutin-Related Protein: From Pathology to Treatments.
Ortiz-Cordero C et al.
Trends in Cell Biology, 2021
Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
Brown SC et al.
Journal of Neuropathology and Experimental Neurology, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB et al.
Annals of Clinical and Translational Neurology, 2020
Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.
Henriques SF et al.
Human Mutation, 2019
The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy.
Nickolls AR et al.
Disease Models & Mechanisms, 2018
A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.
Serafini PR et al.
Jci Insight, 2018
Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy.
Yu Q et al.
Skeletal Muscle, 2018
Genetics and mechanisms leading to human cortical malformations.
Romero DM et al.
Seminars in Cell & Developmental Biology, 2018
Skeletal muscle contractile properties in a novel murine model for limb girdle muscular dystrophy 2i.
Rehwaldt JD et al.
Journal of Applied Physiology (bethesda, Md. : 1985), 2017
Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy.
Booler HS et al.
Neuropathology and Applied Neurobiology, 2017
Mouse models of human ocular disease for translational research.
Krebs MP et al.
Plos One, 2017
216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15-17, 2016 Naarden, The Netherlands.
Richard I et al.
Neuromuscular Disorders : Nmd, 2016
Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.
Booler HS et al.
Brain Pathology (zurich, Switzerland), 2016
Prenatal muscle development in a mouse model for the secondary dystroglycanopathies.
Kim J et al.
Skeletal Muscle, 2016
What do mouse models of muscular dystrophy tell us about the DAPC and its components?
Whitmore C et al.
International Journal of Experimental Pathology, 2014
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Nigro V et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2014
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.
Whitmore C et al.
Human Molecular Genetics, 2014
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
Kava M et al.
Pediatric Neurology, 2013
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
Blaeser A et al.
Human Genetics, 2013
Second international workshop for glycosylation defects in muscular dystrophies, 11-12 November, 2010, Charlotte, USA.
Chan YM et al.
Brain Pathology (zurich, Switzerland), 2011
[Recent Advances in α-dystroglycanopathy].
Kuga A et al.
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2011
Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity.
Krag TO et al.
Skeletal Muscle, 2011
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
Nigro V et al.
Current Opinion in Neurology, 2011
Fukutin-related protein alters the deposition of laminin in the eye and brain.
Ackroyd MR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.
Lin YY et al.
Human Molecular Genetics, 2011
Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected].
Wang CH et al.
The American Journal of Pathology, 2011
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
Chan YM et al.
Human Molecular Genetics, 2010
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
Van Reeuwijk J et al.
Clinical Genetics, 2010
Zebrafish models for human FKRP muscular dystrophies.
Kawahara G et al.
Human Molecular Genetics, 2010
Genetic defects in muscular dystrophy.
Chandrasekharan K et al.
Methods in Enzymology, 2010
Abnormal glycosylation of dystroglycan in human genetic disease.
Hewitt JE
Biochimica Et Biophysica Acta, 2009
158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands.
Muntoni F et al.
Neuromuscular Disorders : Nmd, 2009
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
Ackroyd MR et al.
Brain : a Journal of Neurology, 2009
Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study.
Wahbi K et al.
Neuromuscular Disorders : Nmd, 2008
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
Sveen ML et al.
Annals of Neurology, 2006
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
Torelli S et al.
Neuromuscular Disorders : Nmd, 2005
Glyc-O-genetics of Walker-Warburg syndrome.
van Reeuwijk J et al.
Clinical Genetics, 2005
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Frosk P et al.
Human Mutation, 2005
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Beltran-Valero de Bernabé D et al.
Journal of Medical Genetics, 2004
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
Walter MC et al.
Journal of Medical Genetics, 2004