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NARA Subscribed1
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Springer Nature1
Journal
Human Genetics1
Publication Year
20211
Geoffray Monteuuis results 1 · Newest (Page 1/1, per page 25)
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Author: Geoffray Monteuuis ×Clear All Filters
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In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegenerationNARA Subscribed
Human Genetics · 2021 · Vol. 140 · Issue 11 · Springer
Marjo K. Hytönen; Riika Sarviaho; Christopher B. Jackson; Pernilla Syrjä; Tarja Jokinen; Kaspar Matiasek; Marco Rosati; Cristina Dallabona; Enrico Baruffini; Ileana Quintero; Meharji Arumilli; Geoffray Monteuuis; Jonas Donner; Marjukka Anttila; Anu Suomalainen; Laurence A. Bindoff; Hannes Lohi
We investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at 6–12 weeks of age and progressed rapidly to status epilepticus and death or euthanasia. Histopathological changes at autopsy were restricted to the brain. There was severe acute neuronal degeneration and necros...
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