A5072390968- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Congenital heart defects research
- Amino Acid Enzymes and Metabolism
- Ubiquitin and proteasome pathways
- Cardiomyopathy and Myosin Studies
- Myasthenia Gravis and Thymoma
- Folate and B Vitamins Research
- Peripheral Neuropathies and Disorders
- Inflammatory Myopathies and Dermatomyositis
- Genomics and Rare Diseases
- Fetal and Pediatric Neurological Disorders
- Epilepsy research and treatment
- Lysosomal Storage Disorders Research
- Muscle metabolism and nutrition
- Biochemical and Molecular Research
- RNA regulation and disease
- RNA Research and Splicing
- Tissue Engineering and Regenerative Medicine
- Child Nutrition and Feeding Issues
Hacettepe University
2016-2025
National Institute of Neurological Disorders and Stroke
2024-2025
National Institutes of Health
2024-2025
Pediatrics and Genetics
2018-2024
Hacettepe University Hospital
2013-2022
University of Modena and Reggio Emilia
2018
Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi
2016
Uniwersytecki Szpital Dziecięcy
2015
Children's Clinical University Hospital
2015
Inserm
2015
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability genetic heterogeneity. This study provides comprehensive view of the current basis, range gene-phenotype associations in JS.
Abstract Isolated methylmalonic acidaemia (MMA) and propionic (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis management these disorders has been published for first time. The article received considerable attention, illustrating importance an expert panel to evaluate compile recommendations guide disease patient care. Since that time, growing body transplant outcomes in MMA PA patients use precursor free amino acid...
Abstract Objective Mutations in the genes encoding extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We extensively characterized, at clinical, cellular, molecular levels, 49 patients onset first 2 years life to investigate genotype‐phenotype correlations. Methods Patients were classified into 3 groups: early‐severe (18%), moderate‐progressive...
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) speech/language delay and behavioral problems as the most affected domains was present in 44 participants, additional epilepsy 35 movement disorder 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate protein/arginine restricted diets. The median age at treatment...
Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence next generation sequencing, virtually entire coding region an individual’s DNA can now be analysed through “whole” exome enabling almost all known novel investigated disorders such...
<b><i>Background: </i></b> Congenital muscular dystrophies (CMD) are autosomal recessive disorders that present within the first 6 months of life with hypotonia and a dystrophic muscle biopsy. CNS involvement is in some forms. The fukutin-related protein gene (<i>FKRP</i>) mutated severe form CMD (MDC1C) milder limb girdle dystrophy (LGMD2I). Both forms have secondary deficiencies laminin α2 α-dystroglycan immunostaining. Structural brain has not been observed patients <i>FKRP</i> mutations....
Abstract Objective Mutations in Fused Sarcoma ( FUS or TLS ) are the fourth most prevalent Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early very late disease onset. aggregation, DNA repair deficiency, genomic instability contributors to pathophysiology of FUS‐ALS, but their clinical significance per se influence on variability yet be sufficiently investigated. The aim this study was analyze genotype–phenotype...
GRID2 is a member of the ionotropic glutamate receptor family excitatory neurotransmitter receptors. encodes subunit delta-2, selectively expressed in cerebellar Purkinje cells. The phenotype associated with loss function was described only mice until now, characterized by different degrees ataxia and usually relatively mild abnormalities cerebellum. This work describes for first time human homozygous partial deletion 3 children one large consanguineous Turkish family. Homozygous exons 4 (94...
L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomotor delay, cerebellar and extrapyramidal signs subcortical leukoencephalopathy with basal ganglia dentate nuclei involvement. Mutations in the gene L2HGDH (C14orf160/duranin/) have been identified as causative for L-2-HGA. A feature disproportionally associated L-2-HGA development of malignant brain tumors. In our cohort 40 patients L-2-HGA, two developed...
To identify the underlying etiology of 3 patients in a multiplex family with strokes, chronic immune-mediated peripheral neuropathy, and hemolysis. All had onset infancy.We performed genome-wide linkage analysis followed by whole exome sequencing (WES) proband, Sanger sequencing, segregation putative mutations. In addition, we conducted flow cytometry studies to assess CD59 expression.In 2-generation-3-affected early-onset axonal cerebrovascular event both anterior posterior circulation,...
Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, ∼50% patients with a congenital myopathy remain without genetic diagnosis following screening known disease genes. We performed exome sequencing two consanguineous probands diagnosed muscle biopsy showing selective atrophy/hypotrophy or absence type II myofibres. identified variants in (MYL1) encoding skeletal fast-twitch specific...