| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1026922618 |
| P356 | DOI | 10.1007/S12017-013-8228-Z |
| P698 | PubMed publication ID | 23584918 |
| P50 | author | Filippo Maria Santorelli | Q60541206 |
| Chiara Fiorillo | Q84972907 | ||
| P2093 | author name string | Andrea Pappalardo | |
| Claudio Bruno | |||
| Letizia Pitto | |||
| M Alice Donati | |||
| P2860 | cites work | Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). | Q38291016 |
| Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes | Q38346538 | ||
| Molecular cloning and characterization of dystrophin and Dp71, two products of the Duchenne Muscular Dystrophy gene, in zebrafish | Q38913621 | ||
| Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 | Q24291905 | ||
| The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system | Q24291920 | ||
| Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity | Q24303491 | ||
| Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains | Q24305310 | ||
| Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy | Q24308817 | ||
| Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene | Q24311859 | ||
| Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan | Q24316123 | ||
| Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit | Q24317173 | ||
| An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy | Q24320265 | ||
| Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome | Q24561808 | ||
| Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C | Q24595706 | ||
| Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
| Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin | Q24612112 | ||
| A TALE of two nucleases: gene targeting for the masses? | Q24635945 | ||
| Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East | Q24644863 | ||
| Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies | Q24651944 | ||
| POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome | Q24674153 | ||
| The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy | Q24681141 | ||
| Integrins as receptors for laminins | Q28142460 | ||
| Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype | Q28200361 | ||
| Defective membrane repair in dysferlin-deficient muscular dystrophy | Q28203095 | ||
| Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan | Q28206027 | ||
| The muscle protein Dok-7 is essential for neuromuscular synaptogenesis | Q28247970 | ||
| Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies | Q28256756 | ||
| In vivo imaging of molecular interactions at damaged sarcolemma | Q28261975 | ||
| A simple cipher governs DNA recognition by TAL effectors | Q28265506 | ||
| Conversion of proepithelin to epithelins: roles of SLPI and elastase in host defense and wound repair | Q40677795 | ||
| Progranulin is a mediator of the wound response | Q40678214 | ||
| SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. | Q40805995 | ||
| Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. | Q41294405 | ||
| Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene. | Q41902867 | ||
| DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. | Q41933116 | ||
| Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The Netherlands | Q42127428 | ||
| Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome | Q42226282 | ||
| Characterization of zebrafish dysferlin by morpholino knockdown. | Q42255405 | ||
| Targeted gene disruption in somatic zebrafish cells using engineered TALENs | Q42862072 | ||
| Protein O-mannosylation is necessary for normal embryonic development in zebrafish | Q43064260 | ||
| Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes | Q45373897 | ||
| Genes required for functional glycosylation of dystroglycan are conserved in zebrafish | Q46480449 | ||
| Spatiotemporal expression pattern of progranulin in embryo implantation and placenta formation suggests a role in cell proliferation, remodeling, and angiogenesis. | Q46603141 | ||
| Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment | Q46726595 | ||
| Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo | Q47073103 | ||
| Genes controlling and mediating locomotion behavior of the zebrafish embryo and larva. | Q47073234 | ||
| Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. | Q47073257 | ||
| Delta-sarcoglycan is necessary for early heart and muscle development in zebrafish | Q47073817 | ||
| Delta-sarcoglycan is required for early zebrafish muscle organization | Q47074188 | ||
| Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes | Q48199451 | ||
| Determination of the tissue distributions and relative concentrations of the postsynaptic 43-kDa protein and the acetylcholine receptor in Torpedo | Q48353610 | ||
| Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency | Q48774323 | ||
| TRPV4 in the sensory organs of adult zebrafish. | Q50433518 | ||
| Generation of a non-leaky heat shock-inducible Cre line for conditional Cre/lox strategies in zebrafish. | Q50533048 | ||
| Identification of a zebrafish model of muscular dystrophy. | Q52559374 | ||
| Knockout rats generated by embryo microinjection of TALENs. | Q55054726 | ||
| Large-scale purification of the acetylcholine-receptor protein in its membrane-bound and detergent-extracted forms from Torpedo marmorata electric organ | Q67711932 | ||
| The fukutin protein family--predicted enzymes modifying cell-surface molecules | Q73211785 | ||
| Biosynthesis of dystroglycan: processing of a precursor propeptide | Q73466595 | ||
| Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene | Q73733316 | ||
| Dystrophin in adult zebrafish muscle | Q74393273 | ||
| The Zebrafish motility mutant twitch once reveals new roles for rapsyn in synaptic function | Q74550291 | ||
| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C | Q77346768 | ||
| The zebrafish. Preface | Q82288687 | ||
| Neuromuscular disorders: gene location | Q82557448 | ||
| Birefringent Fourier-transform imaging spectrometer | Q83957650 | ||
| Congenital myasthenic syndromes: an update | Q86301152 | ||
| The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome) | Q87250095 | ||
| Breaking the code of DNA binding specificity of TAL-type III effectors | Q28265515 | ||
| Population frequencies of inherited neuromuscular diseases—A world survey | Q28266298 | ||
| Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy | Q28268625 | ||
| Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1 | Q28268861 | ||
| Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 | Q28280414 | ||
| Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy | Q28281738 | ||
| A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B | Q28281749 | ||
| Functional requirements for fukutin-related protein in the Golgi apparatus | Q28505367 | ||
| 43K protein and acetylcholine receptors colocalize during the initial stages of neuromuscular synapse formation in vivo | Q28589038 | ||
| Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse | Q28589172 | ||
| Effects of progranulin on blastocyst hatching and subsequent adhesion and outgrowth in the mouse | Q28590736 | ||
| Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. | Q30446533 | ||
| Proteinase 3 and neutrophil elastase enhance inflammation in mice by inactivating antiinflammatory progranulin | Q30482362 | ||
| Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly | Q30490809 | ||
| A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease | Q30496374 | ||
| Progranulin modulates zebrafish motoneuron development in vivoand rescues truncation defects associated with knockdown of Survival motor neuron 1 | Q30497278 | ||
| Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations | Q30498672 | ||
| The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies | Q30499359 | ||
| The dystrophin associated protein complex in zebrafish | Q31134324 | ||
| Progranulin (acrogranin/PC cell-derived growth factor/granulin-epithelin precursor) is expressed in the placenta, epidermis, microvasculature, and brain during murine development | Q33187938 | ||
| Zebrafish orthologs of human muscular dystrophy genes | Q33279472 | ||
| Zebrafish models for human FKRP muscular dystrophies | Q33594227 | ||
| Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population | Q33685609 | ||
| Drug screening in a zebrafish model of Duchenne muscular dystrophy. | Q33845739 | ||
| Laminins: structure and genetic regulation | Q34071960 | ||
| Zebrafish models for the functional genomics of neurogenetic disorders | Q34141196 | ||
| Next generation sequencing for molecular diagnosis of neuromuscular diseases. | Q34242488 | ||
| Expression of TRPV4 in the zebrafish retina during development. | Q34251270 | ||
| TRPV4 mutations in children with congenital distal spinal muscular atrophy | Q34270323 | ||
| Sildenafil reverses cardiac dysfunction in the mdx mouse model of Duchenne muscular dystrophy. | Q34279254 | ||
| Congenital myasthenic syndromes in 2012. | Q34407051 | ||
| The influence of growth factors on the development of preimplantation mammalian embryos | Q34466916 | ||
| Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy | Q34673242 | ||
| Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. | Q34699458 | ||
| POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. | Q34699567 | ||
| Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies | Q34766986 | ||
| Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy | Q34989520 | ||
| Immunofluorescence localization at the mammalian neuromuscular junction of the Mr 43,000 protein of Torpedo postsynaptic membranes. | Q35471649 | ||
| Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. | Q35567371 | ||
| Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins | Q35792179 | ||
| Laminin functions in tissue morphogenesis. | Q35912792 | ||
| Survival motor neuron affects plastin 3 protein levels leading to motor defects | Q35970811 | ||
| In vivo drug discovery in the zebrafish | Q36028226 | ||
| Hooked! Modeling human disease in zebrafish | Q36068284 | ||
| Current understanding of congenital myasthenic syndromes | Q36134392 | ||
| Highly efficient generation of heritable zebrafish gene mutations using homo- and heterodimeric TALENs | Q36228544 | ||
| Strength at the extracellular matrix-muscle interface. | Q36315209 | ||
| A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency | Q36358469 | ||
| Zebrafish model for congenital myasthenic syndrome reveals mechanisms causal to developmental recovery | Q36378523 | ||
| Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome | Q36439344 | ||
| TALENs: a widely applicable technology for targeted genome editing | Q36540717 | ||
| FLASH assembly of TALENs for high-throughput genome editing | Q36573684 | ||
| Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy | Q37006949 | ||
| Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin | Q37102146 | ||
| ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor | Q37275142 | ||
| TRPs in our senses | Q37277379 | ||
| Acetylcholine and local anesthetic binding to Torpedo nicotinic postsynaptic membranes after removal of nonreceptor peptides | Q37314344 | ||
| Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects | Q37342966 | ||
| Abnormal glycosylation of dystroglycan in human genetic disease | Q37524912 | ||
| The granulin gene family: from cancer to dementia | Q37606400 | ||
| In the swim of things: recent insights to neurogenetic disorders from zebrafish | Q37767852 | ||
| Muscular dystrophies: an update on pathology and diagnosis | Q37774933 | ||
| TRPV4-mediated channelopathies | Q37777016 | ||
| Dystroglycanopathies: coming into focus | Q37852376 | ||
| Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes | Q37865921 | ||
| Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches | Q37913911 | ||
| Targeted mutagenesis of zebrafish: use of zinc finger nucleases | Q37935723 | ||
| Muscle diseases in the zebrafish. | Q38014653 | ||
| P433 | issue | 2 | |
| P921 | main subject | Danio rerio | Q169444 |
| P304 | page(s) | 405-419 | |
| P577 | publication date | 2013-04-13 | |
| P1433 | published in | NeuroMolecular Medicine | Q15716731 |
| P1476 | title | Neuromuscular disorders in zebrafish: state of the art and future perspectives | |
| P478 | volume | 15 |
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