Prof. Dr. Gülçin AKINCI

Yayın Ağı

Makaleler 8

1. Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey

Komur M., Çağlar E., Akbeyaz İ. H., Keçebaş A., Yıldız E. P., SALTIK S., et al.

European Journal of Paediatric Neurology , cilt.64, ss.56-64, 2026 (SCI-Expanded, Scopus)

2. Tethered Cord Syndrome and Spinal Epidural Lipomatosis in a Child With RALA-Associated Hiatt–Neu–Cooper Syndrome

Gorgulu G., Akpara B. B., Colak E., Onel E., Bolat E., AKINCI G.

American Journal of Medical Genetics, Part A , cilt.200, sa.8, ss.1917-1922, 2026 (SCI-Expanded, Scopus)

3. Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients

AKINCI G., ÖZYILMAZ B., ÖZTÜRK G., Komur M., Onel E., Ardicli D., et al.

Neuromuscular Disorders , cilt.53, 2025 (SCI-Expanded, Scopus)

4. Letter to the editor: In response to Landfeldt E et al., predictors of loss of ambulation in Duchenne Muscular Dystrophy: A systematic review and meta-analysis

AKINCI G., Topaloglu H.

Journal of Neuromuscular Diseases , cilt.12, sa.1, ss.149-150, 2025 (SCI-Expanded, Scopus)

5. Metabolic and other morbid complications in congenital generalized lipodystrophy type 4

AKINCI G., Alyaarubi S., Patni N., Alhashmi N., Al-Shidhani A., Prodam F., et al.

American Journal of Medical Genetics, Part A , cilt.194, sa.6, 2024 (SCI-Expanded, Scopus)

6. Diabetic foot ulcers: A neglected complication of lipodystrophy

Saydam O., Saydam B. O., Adiyaman C. S., Ince M. S., Eren M. A., Keskin F. E., et al.

Diabetes Care , cilt.43, sa.10, 2020 (SCI-Expanded, Scopus)

7. Renal complications of lipodystrophy: A closer look at the natural history of kidney disease

Akinci B., Unlu S. M., Celik A., Simsir I. Y., Sen S., NUR B., et al.

Clinical Endocrinology , cilt.89, sa.1, ss.65-75, 2018 (SCI-Expanded, Scopus)

8. Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy

Akinci B., Onay H., Demir T., SAVAŞ ERDEVE Ş., Gen R., Simsir I. Y., et al.

Metabolism: Clinical and Experimental , cilt.72, ss.109-119, 2017 (SCI-Expanded, Scopus)

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127