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Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.
Seizure. 2019 Aug;70:56-58. doi: 10.1016/j.seizure.2019.06.029. Epub 2019 Jun 27.
Seizure. 2019.
PMID: 31279168
Free article.
Review.
No abstract available.
The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment.
Lanteri P, Meola I, Canosa A, De Marco G, Lomartire A, Rinaudo MT, Albamonte E, Sansone VA, Lunetta C, Manera U, Vasta R, Moglia C, Calvo A, Origone P, Chiò A, Mandich P.
Lanteri P, et al. Among authors: meola i.
Neurobiol Aging. 2021 Jul;103:130.e1-130.e7. doi: 10.1016/j.neurobiolaging.2021.01.029. Epub 2021 Feb 3.
Neurobiol Aging. 2021.
PMID: 33637330
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