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Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
- Published in:
- Acta Myologica, 2018, v. 37, n. 3, p. 210
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- Publication type:
- Article
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.
- Published in:
- Acta Myologica, 2018, v. 37, n. 2, p. 121
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- Publication type:
- Article
Acanthocytosis and HyperCKemia.
- Published in:
- Turkish Journal of Hematology, 2018, v. 35, n. 4, p. 296, doi. 10.4274/tjh.2017.0142
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- Publication type:
- Article
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
- Published in:
- Neurogenetics, 2015, v. 16, n. 1, p. 33, doi. 10.1007/s10048-014-0422-0
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- Publication type:
- Article
Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 24, p. 6458, doi. 10.1093/hmg/ddu366
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- Publication type:
- Article
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1763, doi. 10.1093/hmg/ddr059
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- Publication type:
- Article
Myoblasts and macrophages are required for therapeutic morpholino antisense oligonucleotide delivery to dystrophic muscle.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00924-7
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- Publication type:
- Article
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1249, doi. 10.1038/ejhg.2013.31
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- Publication type:
- Article
On the differential diagnosis of neuropathy in neurogenetic disorders.
- Published in:
- Medizinische Genetik, 2020, p. 243, doi. 10.1515/medgen-2020-2040
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- Publication type:
- Article
On the differential diagnosis of neuropathy in neurogenetic disorders.
- Published in:
- Medizinische Genetik, 2020, p. 243, doi. 10.1515/medgen-2020-2040
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- Publication type:
- Article
Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2384, doi. 10.1002/acn3.50930
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- Publication type:
- Article
Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. 1, doi. 10.1186/s40478-019-0869-1
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- Publication type:
- Article
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1494, doi. 10.3390/genes12101494
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- Publication type:
- Article
Affinity proteomics within rare diseases: a BIO- NMD study for blood biomarkers of muscular dystrophies.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 7, p. 918, doi. 10.15252/emmm.201303724
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- Publication type:
- Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
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- Publication type:
- Article
Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 2, p. 462, doi. 10.1038/mt.2011.248
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- Publication type:
- Article
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome.
- Published in:
- 2010
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- Publication type:
- Case Study
Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.
- Published in:
- Turkish Journal of Pediatrics, 2019, v. 61, n. 6, p. 931, doi. 10.24953/turkjped.2019.06.015
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- Publication type:
- Article
Occipital cortex dysgenesis with white matter changes due to mutations in Laminin α2.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 59, n. 3, p. 338, doi. 10.24953/turkjped.2017.03.018
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- Publication type:
- Article
Development of end-stage renal disease at a young age in two cases with Joubert syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2014, v. 56, n. 4, p. 458
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- Publication type:
- Article
Vibration-Assisted Home Training Program for Children With Spinal Muscular Atrophy.
- Published in:
- Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18780477
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- Publication type:
- Article
Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 8, p. 2088, doi. 10.1002/acn3.52129
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- Publication type:
- Article
Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080263
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- Publication type:
- Article
Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051292
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- Publication type:
- Article
Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014434
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- Publication type:
- Article
Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.
- Published in:
- Molecular & Cellular Pediatrics, 2016, v. 3, n. 1, p. 1, doi. 10.1186/s40348-016-0050-x
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- Publication type:
- Article
A translational approach to dystroglycanopathies: a frequent type of muscular dystrophy.
- Published in:
- 2015
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- Publication type:
- Abstract
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 169, doi. 10.1002/jimd.12454
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- Publication type:
- Article
Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0055-9
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- Publication type:
- Article
Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 3, p. NP92, doi. 10.1177/11206721211021291
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- Publication type:
- Article
Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0806-3
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- Publication type:
- Article
A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.
- Published in:
- 2018
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- Publication type:
- Letter
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17069-9
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- Publication type:
- Article
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 269
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- Publication type:
- Article
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3544, doi. 10.1093/brain/awr291
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- Publication type:
- Article
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2123, doi. 10.1093/brain/awq108
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- Publication type:
- Article
Emotional impact of a paediatric exon-skipping therapy trial.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 12, p. 1157, doi. 10.1111/j.1469-8749.2011.04128.x
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- Publication type:
- Article
Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2885, doi. 10.1093/hmg/ddz109
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- Publication type:
- Article
Genomic profiling in neuronal dyneinopathies and updated classifications.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2607, doi. 10.1002/ajmg.a.62243
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- Publication type:
- Article
Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1678, doi. 10.1002/ajmg.a.62148
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- Publication type:
- Article
Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 344, doi. 10.1002/ajmg.a.61951
- By:
- Publication type:
- Article
Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 90, doi. 10.1002/ajmg.a.61917
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- Publication type:
- Article
Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2450, doi. 10.1002/ajmg.a.61762
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- Publication type:
- Article
COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1556, doi. 10.1001/jamaneurol.2013.3242
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- Publication type:
- Article
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/3128735
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- Publication type:
- Article
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 8, p. 759, doi. 10.1177/0883073817705252
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- Publication type:
- Article