Search Results - "Mahmutoglu S"

Childbirth attitudes in parous and nulliparous women: the roles of cognitive flexibility, perceived social support, and obstetric factors.

Authors: Avcı İK Mahmutoglu S Avcı M

Source: BMC psychology [BMC Psychol] 2026 May 25; Vol. 14 (1). Date of Electronic Publication: 2026 May 25.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101627676 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-7283 (Electronic) Linking ISSN: 20507283 NLM ISO Abbreviation: BMC Psychol Subsets: MEDLINE

Multigene Panel Testing in Pediatric Epilepsy: Diagnostic Yield and Clinical Implications.

Authors: Kim, Young Ho Cho, Jaeso Lee, Seungbok et al.

Source: Annals of Child Neurology. Jul2026, Vol. 34 Issue 3, p192-200. 9p.

An Overview of Drug-Resistant Epilepsies Based on Advances in Genetics: A Cohort Study.

Authors: Kılıç, Betül Topçu, Yasemin Ayaz, Akif et al.

Source: Neurology India. Jan/Feb2026, Vol. 74 Issue 1, p29-33. 5p.

Guanidinoacetate methyltransferase deficiency, a treatable cause of intellectual disability in late childhood.

Authors: Thondiyar Mohamed, Asiyatun Nasrin Palani, Anitha Periyanayagam, Ajitha et al.

Source: Journal of Neurosciences in Rural Practice. Jan-Mar2026, Vol. 17 Issue 1, p1-4. 4p.

Clinical, biochemical and genetic profiling of X-linked adrenoleukodystrophy in Egyptian pediatric patients: a hospital-based study.

Authors: Mehaney, Dina A. Selim, Laila A. Ezzat, Dina A. et al.

Source: Egyptian Journal of Medical Human Genetics. 4/26/2026, Vol. 27 Issue 1, p1-9. 9p.

Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development.

Authors: Abedrabbo, Muna Al Yazeedi, Safiya Leavitt, Blair R. et al.

Source: Biomolecules (2218-273X). Apr2026, Vol. 16 Issue 4, p486. 15p.

Distal nerve blocks at the elbow for traumatic fingertip semi-amputation repair – A case report.

Authors: Jakšić, Lazar Bosinci, Emil Stranjanac, Vladimir et al.

Source: Saudi Journal of Anaesthesia. Jan-Mar2026, Vol. 20 Issue 1, p226-228. 3p.

A Comparative Evaluation of the Therapeutic Effects of Adenosine Triphosphate, Coenzyme Q10, Pyridoxine, and Thiamine Pyrophosphate in a Linezolid-Induced Peripheral Neuropathic Pain Model in Rats.

Authors: Ozgodek, Habip Burak Ince, Ramazan Kahramanlar, Agah Abdullah et al.

Source: Pharmaceuticals (14248247). Feb2026, Vol. 19 Issue 2, p341. 19p.

Creatine and Taurine as Novel Competitive Inhibitors of Acetylcholinesterase: A Biochemical Basis for Nutritional Modulation of Brain Function.

Authors: Adamski, Paweł Szeleszczuk, Łukasz Gackowski, Marcin et al.

Source: International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 23, p11309. 11p.

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.

Authors: Biagiotti, Sara Perla, Elena Guzzo, Serafina Manila et al.

Source: International Journal of Molecular Sciences. Dec2025, Vol. 26 Issue 23, p11282. 23p.

Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.

Authors: Alessandrì MG Bosetti C Scaffei E et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Mar 03; Vol. 21 (1). Date of Electronic Publication: 2026 Mar 03.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Optimizing Gene Therapies for Creatine Transporter Deficiency: Correcting by Connecting.

Authors: Lillis, Kyle P.^1,2 (AUTHOR)

Source: Epilepsy Currents. May/Jun2026, Vol. 26 Issue 3, p242-244. 3p.

Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts.

Authors: Wells, Chloe Sorgenfrei, Jon Johnson, Sadie L. et al.

Source: PLoS ONE. 5/8/2025, Vol. 20 Issue 5, p1-18. 18p.

Genotype–Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1 , SLC6A3 , SLC30A10 , SLC39A14 , and PLA2G6 : MDSGene Systematic Review.

Authors: Rodriguez-Antiguedad, Jon Rajalingam, Rajasumi Krüger, Clara et al.

Source: International Journal of Molecular Sciences. May2025, Vol. 26 Issue 9, p4074. 17p.

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Authors: Zhang, Kaichuang Lu, Deyun Liang, Lili et al.

Source: Orphanet Journal of Rare Diseases. 10/9/2025, Vol. 20 Issue 1, p1-9. 9p.

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Authors: Pascual, Alba Moulka, Thaleia de Fàbregues, Oriol et al.

Source: International Journal of Molecular Sciences. Oct2025, Vol. 26 Issue 19, p9454. 24p.

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population.

Authors: Assaedi, Ekhlas Ashtiani, Setareh Estiar, Mehrdad A. et al.

Source: Movement Disorders Clinical Practice. Sep2025, Vol. 12 Issue 9, p1346-1356. 11p.

FRRS1L variants and ferriheme overload drive hyperpigmentation and systemic Iron overload in lanping black bone sheep.

Authors: Han, Deping Zhang, Yuanyuan Deng, Weidong et al.

Source: Cell & Bioscience. 6/24/2025, Vol. 15 Issue 1, p1-18. 18p.

A novel BCAP31 variant associated with nonsyndromic auditory neuropathy spectrum disorder: mitochondrial dysfunction, cisplatin sensitivity, and amenability to mitochondrial transplantation.

Authors: Kim, Yehree Kim, Yujin Kim, Bong Jik et al.

Source: Journal of Translational Medicine. 6/3/2025, Vol. 23 Issue 1, p1-15. 15p.

X-Linked Cerebral Creatine Deficiency Syndrome with Prolonged QT Interval: A Case Report.

Authors: Kim, Hye Won Park, Ji Kyoung Lee, Jeong Eun et al.

Source: Annals of Child Neurology. Jul2022, Vol. 30 Issue 3, p137-140. 4p.