S. Edvardson

发表

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.

A. Munnich, N. Boddaert, A. Rötig, 2021, Molecular genetics and metabolism.

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

H. Hakonarson, P. Crino, M. Hegde, 2016, American journal of human genetics.

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

T. Harel, Y. Nevo, O. Elpeleg, 2019, European Journal of Human Genetics.

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

L. Feuk, Ann Saada, S. Zenvirt, 2012, American journal of human genetics.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

A. Munnich, D. Galanaud, N. Boddaert, 2010, Journal of Medical Genetics.

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

W. Chung, Ann Saada, A. Shaag, 2011, Journal of Inherited Metabolic Disease.

Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients

Ann Saada, A. Shaag, O. Elpeleg, 2015, Journal of Medical Genetics.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

J. Rosenfeld, M. Reijnders, J. Lupski, 2017, American journal of human genetics.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.

Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove

M. Rivkin, E. Galun, M. Levite, 2020, PLoS neglected tropical diseases.

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

M. Tarnopolsky, R. Rodenburg, M. Knaap, 2012, Journal of Inherited Metabolic Disease.

Dual-Targeted Autoimmune Sword in Fatal Epilepsy: Patient's glutamate receptor AMPA GluR3B peptide autoimmune antibodies bind, induce Reactive Oxygen Species (ROS) in, and kill both human neural cells and T cells.

E. Galun, R. Eilam, B. Reubinoff, 2020, Journal of autoimmunity.

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

A. Cazenave-Gassiot, M. Wenk, T. Harel, 2018, neurogenetics.

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

Yaobo Xu, M. Schuelke, R. Horvath, 2016, Human molecular genetics.

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

T. Harel, Y. Nevo, O. Elpeleg, 2019, European Journal of Human Genetics.

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Doron Lancet, Elon Pras, Yair Anikster, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

K. Bushby, A. De Grassi, Jacqueline A Palace, 2016, Journal of neuromuscular diseases.

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System

L. Appelbaum, D. Vallone, N. Foulkes, 2022, International journal of molecular sciences.

Macrophage migration inhibitory factor in Nodding syndrome

M. Rivkin, E. Galun, M. Levite, 2021, PLoS neglected tropical diseases.

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

O. Elpeleg, S. Bhat, J. Heng, 2016, Human molecular genetics.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of human genetics.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

D. Birchall, M. Santibanez-Koref, P. Chinnery, 2014, Nature Communications.

Functional consequences and structural interpretation of mutations of human choline acetyltransferase

T. Crawford, A. Engel, D. Rodgers, 2011, Human mutation.