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An Unorthodox Disease Mechanism
Elena Perenthaler, MSc
Anita Nikoncuk
Soheil Yousefi, Ph.D
Woutje M Berdowski
Maysoon Alsagob, MSc
Ivan Capo
Herma C. van der Linde
Paul van den Berg
Edwin H. Jacobs
Darija Putar
Mehrnaz Ghazvini, PhD
Eleonora Aronica, MD, PhD
Wilfred Van IJcken, Dr ir
Walter G. de Valk
Evita Medici-van den Herik
Marjon van Slegtenhorst
Lauren Brick
Mariya Kozenko
Jennefer N. Kohler
Jonathan Bernstein, MD
Kristin G Monaghan
Amber Begtrup
Rebecca I. Torene
Amna Al Futaisi, MD, FRCPC, FRCPCH
Fathiya Al Murshedi
Renjith Mani
Faisal Al Azri
Erik-Jan Kamsteeg
Majid Mojarrad
Atieh Eslahi
Zaynab Khazaei
Fateme Massinaei Darmiyan
Mohammad Doosti, PhD
Ehsan Ghayoor Karimiani, MD MRes PhD
Jana Vandrovcova
Faisal Zafar
Nuzhat Rana
Krishna Kumar Kandaswamy, PhD
Jozef Hertecant
Dr. Peter Bauer, MD
Mohammed A. AlMuhaizea
Mustafa Salih, MD, Dr Med Sci, FRCPCH, FAAN
Mazhor Aldosary
Rawan Mohammedomar Almass
Laila Al-Quait
Wafa Qubbaj
Serdar Coskun
Khaled O. Alahmadi
Muddathir H. A. Hamad
Salem Alwadaee
Khalid Awartani
Anas M. Dababo
Futwan Almohanna
Dilek Colak
Mohammadreza Dehghani, MD, PhD
Mohammad Yahya Vahidi Mehrjardi
Murat Gunel
Ad Gulhan Ercan-Sencicek, PhD
Gouri Rao Passi
Huma Arshad Cheema
Stephanie Efthymiou, BSc MSc PhD
Henry Houlden, MD PhD
Aida M. Bertoli-Avella, MD
Alice S Brooks
Kyle Retterer
Reza Maroofian, PhD
Namik Kaya, MSc, PhD
Tjakko J Van Ham
Tahsin Stefan Barakat, PhD, MD
December 09, 2019
Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of a disease-relevance of this rare constellation. It was published in the highly prestigious journal, Acta Neuropathologica.