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1 . Academic Journal
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
저자
by
Helman, Guy
;
Taylor, Lauren E.
;
Walkiewicz, Marzena
;
Le Moing, Maelle
;
Eggers, Stefanie
, et al.
소스
In
European Journal of Medical Genetics
August 2021 64(8)
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7 . Academic Journal
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
저자
by
Passchier, Emma M. J.
;
Bisseling, Quinty
;
Helman, Guy
;
van Spaendonk, Rosalina M. L.
;
Simons, Cas
, et al.
소스
Frontiers in Genetics; 2024, p1-21, 21p
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7 . Academic Journal
BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) AS A NOVEL CANDIDATE GENE FOR PEDIATRIC NEURODEGENERATION
저자
by
DiSanza, Brianna
;
Simons, Cas
;
Helman, Guy
;
Taft, Ryan
;
Vanderver, Adeline
, et al.
소스
In
Molecular Genetics and Metabolism
March 2023 138(3)
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7 . Academic Journal
BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMENT IN NEURODEGENERATION: NEW INSIGHTS AND THERAPEUTIC IMPLICATIONS
저자
by
Angireddy, Rajesh
;
Welter, Emma
;
Helman, Guy
;
Simons, Cas
;
Taft, Ryan
, et al.
소스
In
IBRO Neuroscience Reports
October 2023 15 Supplement 1:S86-S87
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7 . Academic Journal
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
저자
by
Van Haute, Lindsey
;
O'Connor, Emily
;
Díaz-Maldonado, Héctor
;
Munro, Benjamin
;
Polavarapu, Kiran
, et al.
소스
Nature Communications; 2/23/2023, Vol. 14 Issue 1, p1-21, 21p
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7 .
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations
저자
by
Wu, Kaiyuan
;
Takanohashi, Asako
;
Woidill, Sarah
;
Seylani, Allen
;
Helman, Guy
, et al.
소스
In
Stem Cell Research
October 2022 64
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7 . Academic Journal
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.
저자
by
Takanohashi, Asako
;
Alameh, Mohamad-Gabriel
;
Woidill, Sarah
;
Hacker, Julia
;
Davis, Benjamin
, et al.
소스
Molecular Genetics & Metabolism
. Dec2022, Vol. 137 Issue 4, p320-327. 8p.
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7 . Academic Journal
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
저자
by
Helman, Guy
;
Zarekiani, Parand
;
Tromp, Samantha A.M.
;
Andrews, Ashley
;
Botto, Lorenzo D.
, et al.
소스
Annals of Neurology
. Nov2022, Vol. 92 Issue 5, p895-901. 7p.
Full Text (Wiley)
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7 . Academic Journal
Mainstreaming proteomics into rare disease diagnostics
저자
by
Hock, Daniella H.
;
Compton, Alison G.
;
Amarasekera, Sumudu S.C.
;
Frazier, Ann E.
;
Helman, Guy
, et al.
소스
In
Pathology
March 2022 54 Supplement 1:S17-S17
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7 . Academic Journal
Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy.
저자
by
Gonzalez, Carlos Dominguez
;
Sanderson, Leslie E.
;
Depace, Raffaella
;
Helman, Guy
;
Wu, Kaiyuan
, et al.
소스
Molecular Genetics & Metabolism
. Apr2024, Vol. 141 Issue 4, pN.PAG-N.PAG. 1p.
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