Haluk Topaloğlu
A5086201681- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Metabolism and Genetic Disorders
- Cerebral Palsy and Movement Disorders
- Tissue Engineering and Regenerative Medicine
- RNA Research and Splicing
- Ubiquitin and proteasome pathways
- Nuclear Structure and Function
- Neurological diseases and metabolism
- Children's Physical and Motor Development
- Congenital Anomalies and Fetal Surgery
- Peripheral Neuropathies and Disorders
- Myasthenia Gravis and Thymoma
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Cell Adhesion Molecules Research
- Cellular transport and secretion
- Muscle activation and electromyography studies
- Genomics and Rare Diseases
- Inflammatory Myopathies and Dermatomyositis
Hacettepe University
2015-2024
Yeditepe University
2020-2024
Yeditepe University Hospital
2021-2024
Istanbul University
2023
Ankara Yıldırım Beyazıt University
2023
Hacettepe University Hospital
2013-2022
Assistance Publique – Hôpitaux de Paris
2015-2020
Université Paris Cité
2020
Institut de Myologie
1998-2020
Centre National de la Recherche Scientifique
2020
Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that caused by insufficient level of survival motor neuron (SMN) protein. Nusinersen antisense oligonucleotide drug modifies pre–messenger RNA splicing the SMN2 gene and thus promotes increased production full-length SMN
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, improved clinical care. Locus-specific databases allow collection, organization, storage, analysis genetic variants disease. Here, we describe development TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed data 7,149 held within database. A total 5,682 large were observed (80%...
Muscular dystrophies with reduced glycosylation of α-dystroglycan (α-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group autosomal recessive conditions which include wide spectrum clinical severity. Reported phenotypes range from severe congenital onset Walker–Warburg syndrome (WWS) structural brain and eye involvement, relatively mild adult limb girdle muscular dystrophy (LGMD). Specific syndromes were originally described in association mutations any one six...
<h3>Importance</h3> Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain complex defects are particularly difficult to diagnose at the molecular level because massive number nuclear genes potentially involved in intramitochondrial protein synthesis, with many not yet linked human disease. <h3>Objective</h3> To determine basis multiple deficiencies. <h3>Design, Setting, and Participants</h3> We studied...
To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Seventeen disease experts, a patient representative, and two Cochrane methodologists constructed 12 Population/Intervention/Comparison/Outcome (PICO) questions regarding diagnosis treatment to guide literature search. Data were extracted summarized in GRADE summary of findings (for PICOs) or evidence tables diagnostic PICOs). Statements prepared according Evidence-to-Decision...
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families isolated myopathic phenotype of CoQ10 deficiency. The clinical, histological biochemical presentation our was very homogenous. All presented exercise intolerance, fatigue, proximal myopathy high serum CK. Muscle histology showed lipid accumulation subtle signs mitochondrial myopathy. Biochemical...
Glycosylated α-dystroglycan (α-DG) serves as cellular entry receptor for multiple pathogens, and defects in its glycosylation cause hereditary Walker-Warburg syndrome (WWS). At least eight proteins are critical to glycosylate α-DG, but many genes mutated WWS remain unknown. To identify modifiers of we performed a haploid screen Lassa virus entry, hemorrhagic fever causing thousands deaths annually that hijacks glycosylated α-DG enter cells. In complementary screens, profiled cells absence...
To revise the 2010 consensus guideline on chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).Seventeen disease experts, a patient representative, and two Cochrane methodologists constructed 12 Population/Intervention/Comparison/Outcome (PICO) questions regarding diagnosis treatment to guide literature search. Data were extracted summarized in GRADE summary of findings (for PICOs) or evidence tables diagnostic PICOs).Statements prepared according Evidence-to-Decision frameworks....
Dystroglycan, which serves as a major extracellular matrix receptor in muscle and the central nervous system, requires extensive O-glycosylation to function. We identified dystroglycan missense mutation (Thr192→Met) woman with limb-girdle muscular dystrophy cognitive impairment. A mouse model harboring this recapitulates immunohistochemical neuromuscular abnormalities observed patient. In vitro vivo studies showed that impairs function of skeletal brain by inhibiting post-translational...
Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy. Symptoms may vary greatly in presentation and severity. Besides weakness sensory disturbances, patients have cranial nerve involvement, respiratory insufficiency, autonomic dysfunction pain. To develop evidence-based guideline for the diagnosis treatment of GBS, using Grading Recommendations, Assessment, Development Evaluation (GRADE) methodology a Task Force (TF) European Academy Neurology (EAN) Peripheral Nerve Society (PNS)...
Abstract Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen in children (two SMN2 copies, n = 15; three 10) who initiated treatment the presymptomatic stage spinal muscular atrophy (SMA). A prior analysis after ~3 y showed benefits on survival, respiratory outcomes, motor milestone achievement, and a favorable safety profile. An additional 2 follow‐up (data cut: February 15, 2021) are reported. Methods The primary endpoint time to death or intervention (≥6 h/day...