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

Ronen Spiegel, Ann Saada, Jonatan Halvardson, +8

European Journal of Human Genetics

Mitochondrial MyopathyDeleterious MutationMendelian DisorderMitochondrial FunctionGenetic Disorder +5

<i>SLC25A19</i> mutation as a cause of neuropathy and bilateral striatal necrosis

Ronen Spiegel, Avraham Shaag, Simon Edvardson, +6

Annals of Neurology

TMEM70 deficiency: long‐term outcome of 48 patients

Martin Magner, Veronika Dvořáková, Markéta Tesařová, +24

Journal of Inherited Metabolic Disease

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in<i>IER3IP1</i>: insights into the natural history of a rare disorder

Stavit A. Shalev, Yardena Tenenbaum‐Rakover, Yoseph Horovitz, +11

Pediatric Diabetes

Expanding the clinical spectrum of SLC29A3 gene defects

Ronen Spiegel, Simon T. Cliffe, Michael F. Buckley, +7

European Journal of Medical Genetics

Genetic DisorderGeneticsDisease Gene IdentificationSlc29a3 Gene DefectsMedicine +1

Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations

Ronen Spiegel, Estela Área-Gómez, Hasan O. Akman, +3

Neuromuscular Disorders

New CasePhosphoglycerate KinaseInherited Metabolic DiseasePhysiologyPathology +4

Severe Meningoencephalitis Due to Late Reactivation of Varicella-Zoster Virus in an Immunocompetent Child

Ronen Spiegel, Dan Miron, Dmitry Lumelsky, +1

Journal of Child Neurology

Characteristic Skin LesionsImmunologyPathologyMagnetic Resonance ImagingSevere Meningoencephalitis Due +16

Acute Human Parvovirus B-19 Infection in Hospitalized Children

Dan Miron, Anthony Luder, Yoseph Horovitz, +5

The Pediatric Infectious Disease Journal

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene

Hanna Mandel, Ksenya Cohen Katsanelson, Morad Khayat, +8

European Journal of Medical Genetics

Novel MutationDevelopmental BiologyGenetic DisorderMfsd8 GenePathology +5

Pylephlebitis due to perforated appendicitis in a teenager

Carina Levin, Ariel Koren, Dan Miron, +4

European Journal of Pediatrics

Perforated AppendicitisSurgical PathologyOperative Management