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1 . Academic Journal
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
저자
by
Shieh, Joseph T.
;
Tintos-Hernandez, Jesus A.
;
Murali, Chaya N.
;
Penon-Portmann, Monica
;
Flores-Mendez, Marco
, et al.
소스
In
Human Genetics and Genomics Advances
12 October 2023 4(4)
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7 . Academic Journal
Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry.
저자
by
Brimble, Elise
;
Reyes, Kathryn G.
;
Kuhathaas, Kopika
;
Devinsky, Orrin
;
Ruzhnikov, Maura R. Z.
, et al.
소스
Orphanet Journal of Rare Diseases; 6/12/2023, Vol. 18 Issue 1, p1-10, 10p
Open Access (BioMed Central)
Web of Science
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7 . Periodical
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1variants
저자
by
Kayumi, Sayaka
;
Pérez-Jurado, Luis A.
;
Palomares, María
;
Rangu, Sneha
;
Sheppard, Sarah E.
, et al.
소스
Genetics in Medicine; November 2022, Vol. 24 Issue: 11 p2351-2366, 16p
Full Text (ScienceDirect)
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7 . Academic Journal
Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy.
저자
by
Tintos-Hernández, Jesus A.
;
Santana, Adrian
;
Keller, Kierstin N.
;
Ortiz-González, Xilma R.
.
소스
Brain Communications; 2021, Vol. 3 Issue 4, p1-13, 13p
Open Access (OUP)
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6 . Academic Journal
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
저자
by
Johannesen, Katrine M.
;
Gardella, Elena
;
Gjerulfsen, Cathrine E.
;
Bayat, Allan
;
Rouhl, Rob P.W.
, et al.
소스
Neurology: Genetics
. Dec 01, 2021 7(6):e613-e613
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7 . Academic Journal
Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature.
저자
by
Cuddapah, Vishnu Anand
;
Dubbs, Holly A.
;
Adang, Laura
;
Kugler, Steven L.
;
McCormick, Elizabeth M.
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2021, Vol. 185 Issue 6, p1700-1711, 12p
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7 . Academic Journal
Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?
저자
by
Ortiz-González, Xilma R.
.
소스
Developmental Neuroscience; 2021, Vol. 43 Issue 3/4, p222-229, 8p
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3 . Academic Journal
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
저자
by
Abdelmoumen, Imane
;
Jimenez, Sandra
;
Valencia, Ignacio
;
Melvin, Joseph
;
Legido, Agustin
, et al.
소스
Journal of Child Neurology; Feb2021, Vol. 36 Issue 2, p93-98, 6p
Web of Science
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7 . Periodical
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
저자
by
Klionsky, Daniel J.
;
Abdel-Aziz, Amal Kamal
;
Abdelfatah, Sara
;
Abdellatif, Mahmoud
;
Abdoli, Asghar
, et al.
소스
Autophagy; January 2021, Vol. 17 Issue: 1 p1-382, 382p
Web of Science
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7 . Academic Journal
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
저자
by
Gustafson, Margaret A.
;
McCormick, Elizabeth M.
;
Perera, Lalith
;
Longley, Matthew J.
;
Bai, Renkui
, et al.
소스
PLoS ONE; 9/2/2019, Vol. 14 Issue 9, p1-24, 24p
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