S. Edvardson

A. Fattal-Valevski, S. Edvardson, T. Lerman-Sagie, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

W. Chung, S. Bale, M. Hediger, 2015, Journal of Medical Genetics.

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function

V. Meiner, Ann Saada, S. Edvardson, 2016, American journal of medical genetics. Part A.

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

T. Harel, S. Edvardson, O. Elpeleg, 2019, neurogenetics.

A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay

S. Edvardson, A. Shaag, O. Elpeleg, 2016, neurogenetics.

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

L. Sturiale, D. Garozzo, R. Gerardy-Schahn, 2013, Journal of Medical Genetics.

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

H. Mandel, S. Edvardson, A. Shaag, 2009, Annals of neurology.

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation

S. Edvardson, A. Shaag, O. Elpeleg, 2014, Journal of Medical Genetics.

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

N. Simonis, M. Abramowicz, I. Pirson, 2012, Journal of Medical Genetics.

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene

M. Gomori, A. Frumkin, V. Meiner, 2014, neurogenetics.

Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy

A. Vanderver, R. Taft, M. S. van der Knaap, 2016, Annals of neurology.

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

Ann Saada, J. Gärtner, S. Edvardson, 2012, Orphanet Journal of Rare Diseases.

Nociception and pain in humans lacking a functional TRPV1 channel

B. Minke, S. Edvardson, O. Elpeleg, 2022, The Journal of clinical investigation.

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

M. Huizing, A. Azem, J. Stephen, 2017, Clinical genetics.

C6ORF66 is an assembly factor of mitochondrial complex I.

Ann Saada, S. Edvardson, A. Shaag, 2008, American journal of human genetics.

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

A. Livne, J. Gomori, S. Korman, 2010, Molecular genetics and metabolism.

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

B. Webb, S. Edvardson, O. Elpeleg, 2016, Journal of Medical Genetics.

Attention Deficit Hyperactivity Disorders Symptomatology Among Individuals With Down Syndrome

S. Edvardson, A. Tenenbaum, I. Wexler, 2014 .

Mutation‐specific effects on thin filament length in thin filament myopathy

K. Pelin, B. Engelen, V. Lehtokari, 2016, Annals of neurology.

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

T. Mullen, S. Edvardson, A. Shaag, 2017, American journal of human genetics.

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews

I. Lerer, S. Edvardson, S. Zenvirt, 2011, American journal of medical genetics. Part A.

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

O. Schueler‐Furman, Ann Saada, S. Edvardson, 2014, European Journal of Human Genetics.

Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia.

Brian C. Smith, S. Edvardson, O. Elpeleg, 2015, Gastroenterology.

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

L. Feuk, Ann Saada, S. Edvardson, 2013, European Journal of Human Genetics.

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

A. Durr, A. Brice, G. Stevanin, 2013, Journal of Medical Genetics.

PARP10 deficiency manifests by severe developmental delay and DNA repair defect

S. Edvardson, O. Elpeleg, George-Lucian Moldovan, 2016, neurogenetics.

Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy

N. Dascal, S. Edvardson, S. Zenvirt, 2013, Journal of Medical Genetics.

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

J. Hardy, A. Munnich, N. Boddaert, 2010, Annals of neurology.

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

W. Chung, O. Devinsky, D. Lowenstein, 2018, American journal of medical genetics. Part A.

A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency

D. Steinemann, A. Schambach, O. von Bohlen und Halbach, 2018, European Journal of Human Genetics.

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

T. Strom, A. Ekici, M. Nothnagel, 2018, European Journal of Human Genetics.

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

P. Cullen, S. Edvardson, O. Elpeleg, 2015, neurogenetics.

PARP10 deficiency manifests by severe developmental delay and DNA repair defect

S. Edvardson, O. Elpeleg, George-Lucian Moldovan, 2016, neurogenetics.

A human laterality disorder caused by a homozygous deleterious mutation in MMP21

N. Katsanis, S. Moon, S. Edvardson, 2015, Journal of Medical Genetics.

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

William B Dobyns, Hanna Mandel, Bruria Ben-Zeev, 2010, American journal of human genetics.

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

A. De Grassi, G. Punzi, S. Edvardson, 2019, American journal of human genetics.

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

S. Edvardson, A. Shaag, O. Elpeleg, 2012, Annals of Neurology.

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

J. Gomori, S. Korman, Ann Saada, 2008, American journal of human genetics.

Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation

D. Mevorach, S. Edvardson, O. Elpeleg, 2016, Annals of neurology.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, Brain : a journal of neurology.

OP-BRAI190255 2948..2964

Nancy T. Malintan, M. Ryten, N. Boddaert, 2019 .

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

A. Hamosh, N. Sobreira, T. Harel, 2019, American journal of human genetics.

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability

Philippe M. Campeau, T. Kinoshita, S. Edvardson, 2016, Journal of Medical Genetics.

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

J. Kollman, T. Harel, S. Edvardson, 2023, bioRxiv.

A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency

D. Steinemann, A. Schambach, O. von Bohlen und Halbach, 2018, European Journal of Human Genetics.

The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

J. Gomori, Ann Saada, S. Edvardson, 2008, Molecular genetics and metabolism.

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene

S. Bale, A. Fattal-Valevski, N. Imamoto, 2015, Journal of Medical Genetics.

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

V. Crécy-Lagard, P. Dedon, S. Edvardson, 2017, European Journal of Human Genetics.

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

G. Hannon, Yaniv Erlich, J. Gomori, 2010, American journal of human genetics.

Is Associated with a TMEM216 Mutation

G. Hannon, Yaniv Erlich, J. Gomori, 2010 .

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness

A. Fattal-Valevski, E. Kerem, P. Colas, 2018, American journal of medical genetics. Part A.

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization

S. Edvardson, T. Dor, O. Elpeleg, 2015, neurogenetics.

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene

S. Edvardson, O. Elpeleg, B. Abu-Libdeh, 2017, neurogenetics.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Y. Shapira, A. Engel, N. Orenstein, 2015, Neuromuscular Disorders.

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

E. Leshinsky‐Silver, D. Lev, M. Henneke, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Highly fatal fast-channel syndrome caused by AChR ɛ subunit mutation at the agonist binding site

S. Sine, A. Engel, S. Edvardson, 2012, Neurology.

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

J. Kollman, T. Harel, S. Edvardson, 2023, The Journal of biological chemistry.

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization

S. Edvardson, T. Dor, O. Elpeleg, 2015, neurogenetics.

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.

WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy

E. Bertini, K. Strauss, A. D’Amico, 2023, Annals of clinical and translational neurology.

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.