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Human Mutation, ISSN 1059-7794, 10/2012, Volume 33, Issue 10, pp. 1423 - 1428
Journal Article
Human Mutation, ISSN 1059-7794, 12/2017, Volume 38, Issue 12, pp. 1649 - 1659
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 786 - 792
BackgroundVoltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and... 
GAIN-OF-FUNCTION | EPISODIC ATAXIA TYPE-1 | GENETICS & HEREDITY | SENSORINEURAL DEAFNESS | NALCN CAUSE | CENTRAL-NERVOUS-SYSTEM | MUTATIONS | POTASSIUM CHANNEL GENE | EXPRESSION | K+ CHANNELS | FAST INACTIVATION
Journal Article
by Perenthaler, Elena and Nikoncuk, Anita and Yousefi, Soheil and Berdowski, Woutje M and Alsagob, Maysoon and Capo, Ivan and van der Linde, Herma C and van den Berg, Paul and Jacobs, Edwin H and Putar, Darija and Ghazvini, Mehrnaz and Aronica, Eleonora and van IJcken, Wilfred F. J and de Valk, Walter G and Medici-van den Herik, Evita and van Slegtenhorst, Marjon and Brick, Lauren and Kozenko, Mariya and Kohler, Jennefer N and Bernstein, Jonathan A and Monaghan, Kristin G and Begtrup, Amber and Torene, Rebecca and Al Futaisi, Amna and Al Murshedi, Fathiya and Mani, Renjith and Al Azri, Faisal and Kamsteeg, Erik-Jan and Mojarrad, Majid and Eslahi, Atieh and Khazaei, Zaynab and Darmiyan, Fateme Massinaei and Doosti, Mohammad and Karimiani, Ehsan Ghayoor and Vandrovcova, Jana and Zafar, Faisal and Rana, Nuzhat and Kandaswamy, Krishna K and Hertecant, Jozef and Bauer, Peter and AlMuhaizea, Mohammed A and Salih, Mustafa A and Aldosary, Mazhor and Almass, Rawan and Al-Quait, Laila and Qubbaj, Wafa and Coskun, Serdar and Alahmadi, Khaled O and Hamad, Muddathir H. A and Alwadaee, Salem and Awartani, Khalid and Dababo, Anas M and Almohanna, Futwan and Colak, Dilek and Dehghani, Mohammadreza and Mehrjardi, Mohammad Yahya Vahidi and Gunel, Murat and Ercan-Sencicek, A. Gulhan and Passi, Gouri Rao and Cheema, Huma Arshad and Efthymiou, Stephanie and Houlden, Henry and Bertoli-Avella, Aida M and Brooks, Alice S and Retterer, Kyle and Maroofian, Reza and Kaya, Namik and van Ham, Tjakko J and Barakat, Tahsin Stefan
Acta Neuropathologica, ISSN 0001-6322, 12/2019
Journal Article
2011
Mitochondria are organelles present in all nucleated cells and are the only location of extra-chromosomal DNA within mammalian cells. They are responsible for... 
Dissertation
Intractable & Rare Diseases Research, ISSN 2186-3644, 2016, Volume 5, Issue 3, pp. 227 - 230
We report an unusual case of recurrent encephalopathy due to acquired hemophagocytic lymphohistiocytosis (HLH) in a patient with propionic acidemia (PA). PA is... 
Inherited metabolic disorders | pancytopenia | propionic acidemia | Pancytopenia | Propionic acidemia | Case Report
Journal Article
Intractable & Rare Diseases Research, ISSN 2186-3644, 2016
We report an unusual case of recurrent encephalopathy due to acquired hemophagocytic lymphohistiocytosis (HLH) in a patient with propionic acidemia (PA). PA is... 
propionic acidemia | Inherited metabolic disorders | pancytopenia
Journal Article
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