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Annals of Neurology|October 3, 2009
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosisRonen Spiegel, Avraham Shaag, Simon Edvardson, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus JewsRonen Spiegel, Avraham Shaag, Hanna Mandel, et al.
European Journal of Medical Genetics|September 5, 2020
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiencyMichal M Andelman-Gur, Hirotomo Saitsu, Naomichi Matsumoto, et al.
Molecular Genetics and Metabolism|May 28, 2019
Gaucher disease type 3c: New patients with unique presentations and review of the literatureAlina Kurolap, Mireia Del Toro, Ronen Spiegel, et al.
Metabolic Brain Disease|September 14, 2017
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levelsYoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, et al.
Pediatric Cardiology|March 27, 2012
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndromeJamal Mahamid, Avraham Lorber, Yoseph Horovitz, et al.
International Journal of Molecular Sciences|August 10, 2024
Case Report: A Case of a Patient with Smith-Magenis Syndrome and Early-Onset Parkinson's DiseaseTchelet Stern, Yara Hussein, Diogo Cordeiro, et al.
Frontiers in Pediatrics|June 3, 2022
A Novel Homozygous Missense Variant in the <i>LRRC32</i> Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental DelayZufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, et al.
Molecular Genetics and Metabolism Reports|September 6, 2023
Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trialReena Sharma, Caroline Hastings, Orna Staretz-Chacham, et al.
Annals of the American Thoracic Society|September 28, 2022
Inhaled Nitric Oxide for the Treatment of Acute Bronchiolitis: A Multicenter Randomized Controlled Clinical Trial to Evaluate Dose ResponseAviv Goldbart, Moran Lavie, Ronit Lubetzky, et al.
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