Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Autor: Marchiani Valentina, Demir Ercan, Corsolini Fabio, Simonati Alessandro, Boespflug-Tanguy Odile, Uziel Graziella, Bertini Enrico, Lualdi Susanna, Mort Matthew, Biancheri Roberta, Regis Stefano, Grossi Serena, Percesepe Antonio, Stanzial Franco, Rossi Andrea, Vaurs-Barrière Catherine, Cooper David N, Filocamo Mirella

Publikováno v: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 40 (2011)

Abstract Background The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP). PLP1 mut

Externí odkaz: https://doaj.org/article/113765785a024c339af3c1f7ef99b639

Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes

Autor: Yılmaz, Ünsal, Anlar, Banu, Gücüyener, Kıvılcım, Canpolat, Mehmet, Saltik, Sema, Ünver, Olcay, Çıtak Kurt, Ayşegül Neşe, Tosun, Ayşe, Yılmaz, Sanem, Özgör, Bilge, Erol, İlknur, Öztoprak, Ülkühan, Aykol, Duygu, Direk, Meltem Çobanoğulları, Bodur, Muhittin, Teber, Serap, Yıldız, Edibe Pembegül, Yarar, Coşkun, Kara, Bülent, Haspolat, Şenay, İncecik, Faruk, Kutluk, Gültekin, Dilber, Cengiz, Dundar, Nihal Olgac, Tan, Hüseyin, Öncel, İbrahim, Demir, Ercan, Dursun, Büşra Daşlı, Dilek, Tuğçe Damla, Türkdoğan, Dilşad, Yalnızoğlu, Dilek, Akbaş, Salih, Güleç, Ayten, Yılmaz, Deniz, Ayanoğlu, Müge, Kanmaz, Seda, Güngör, Serdal, Öztürk, Gülten, Beşen, Şeyda, Haliloğlu, Göknur, Karaca, Nazlı Balcan, Öztürk, Selcan, Yüksel, Deniz, Gürkaş, Esra, Oktay, Seçil, Serin, Hepsen Mine, Karadağ, Meral, Hakkı Akbeyaz, İsmail, Yiş, Uluç, Polat, Burçin Gönüllü, Okan, Mehmet Sait, Bektaş, Ömer, Orgun, Leman Tekin, Günbey, Ceren, Per, Hüseyin, Gültutan, Pembe, Öztürk, Semra Büyükkorkmaz, Aksoy, Erhan, Akyüz, Gülcan, Tekgül, Hasan, Kürekçi, Fulya, Kurul, A. Semra Hız, Çarman, Kürşat Bora, Alikılıç, Defne, Duman, Özgür, Kömür, Mustafa, Yıldırım, Miraç, Alıcı, Nurettin, Gümüş, Hakan, Polat, Muzaffer, Konuşkan, Bahadır, Güngör, Olcay, Mert, Gülen Gül, Edizer, Selvinaz, Mıhçı, Filiz, Öztürk, Sedef Terzioğlu, Yavuz, Merve, Toker, Rabia Tütüncü, Arslan, Mutluay, Şahin, Sevim, Gencpinar, Pinar, Yıldırım, Elif, Yüksel, Ersin, Ekici, Arzu, Deniz, Adnan, Yayici Köken, Özlem, Okuyaz, Çetin, Süt, Nurşah Yeniay, Atasoy, Ergin, Solmaz, İsmail, Yetkin, Mehmet Fatih, Bilgin, Neslihan, Atasever, Aslı Kübra, Tekin, Hande Gazeteci, Dokurel, İpek, Özçelik, Aysima, Aksoy, Ayşe, Türköz, Ayşe Nur, Cavusoglu, Dilek, Özkan, Mehbare, Tekin, Emine, Şahin, Türkan Uygur, Ünalp, Aycan, Koç, Habibe, Sarıgeçili, Esra, Sarıtaş, Serdar, Ayça, Senem, Kayılıoğlu, Hülya, Şenoğlu, Mine Çiğdem, Kamaşak, Tülay, Asadova, Nargis, Keskin, Filiz, Karaoğlu, Pakize, İpek, Rojan, Acer, Hamit, Saltık, Sema, Elitez, Duygu Aykol

Publikováno v: In European Journal of Paediatric Neurology November 2022 41:8-18

Evaluation of state and trait anxiety levels of parents and children before electroencephalography procedures: A prospective study from a tertiary epilepsy center

Autor: Tekin, Leman Orgun, Cebeci, Dilek, Ünver, Elif, Acar, A. Şebnem Soysal, Demir, Ercan, Gücüyener, Kıvılcım, Dikmen, Asiye Uğraş, Serdaroğlu, Ayşe, Arhan, Ebru

Publikováno v: In Epilepsy & Behavior November 2020 112

An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochon- drial DNA depletion syndrome with a novel mutation

Autor: EZGÜ, FATİH SÜHEYL, DEMİR, ERCAN, BİBEROĞLU, GÜRSEL, SERDAROĞLU, AYŞE, OKUR, İLYAS, TÜMER, LEYLA, İNCİ, ASLI

Publikováno v: Neurology Asia. 27:199-202

Ribonucleotide-diphosphate reductase subunit M2B(RRM2B)-related mitochondrial disease is one of the ultra-rare mitochondrial depletion syndromes. A-2-months of age girl who had severe hypotonia with absent reflexes, failure to thrive, and development

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae485e86b7e736519877b23db2d1227
https://doi.org/10.54029/2022zpv

The Effect of Topiramate on Body Weight and Ghrelin, Leptin, and Neuropeptide-Y Levels of Prepubertal Children With Epilepsy

Autor: Ozcelik, Ayse Aysima, Serdaroglu, Ayşe, Bideci, Aysun, Arhan, Ebru, Soysal, Şebnem, Demir, Ercan, Gücüyener, Kıvılcım

Publikováno v: In Pediatric Neurology August 2014 51(2):220-224