INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center

Industry / private company


Location: Ankara, Turkey (TR) TR

ISNI: 000000047553324X

ROR: https://ror.org/04fpsr797

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy? (2026) Durmuş H, Clemen CS, Uçar EÖ, Hofmann A, Schlötzer-Schrehardt U, Mertoğlu E, Ceylaner S, et al. Journal article Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP sydrome) caused by a novel mutation in ADPRHL2 (AHR3) (2021) Durmus H, Mertoğlu E, Sticht H, Ceylaner S, Kulaksızoğlu IB, Hashemolhosseini S, Uçar EÖ, Parman Y Journal article EPISODIC PSYCHOSIS, ATAXIA, MOTOR NEUROPATHY CAUSED BY A NOVEL MUTATION IN ADPRHL2 (2020) Durmus H, Sticht H, Ceylaner S, Hashemolhosseini S, Parmn Y Conference contribution Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine (2020) Durmus H, Sticht H, Ceylaner S, Hashemolhosseini S, Deymeer F Journal article