Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities

Por Alkufri, Fadi, Shaag, Avraham, Abu-Libdeh, Bassam, Elpeleg, Orly
Publicado no Neurol Genet (2016)

Cryptic proteolytic activity of dihydrolipoamide dehydrogenase

Por Babady, Ngolela Esther, Pang, Yuan-Ping, Elpeleg, Orly, Isaya, Grazia
Publicado em 2007

Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

Por Anikster, Yair, Kleta, Robert, Shaag, Avraham, Gahl, William A., Elpeleg, Orly
Publicado em 2001

A Recessive Contiguous Gene Deletion of Chromosome 2p16 Associated with Cystinuria and a Mitochondrial Disease

Por Parvari, Ruti, Brodyansky, Irena, Elpeleg, Orly, Moses, Shimon, Landau, Daniel, Hershkovitz, Eli
Publicado em 2001

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

Por Spiegel, Ronen, Soiferman, Devorah, Shaag, Avraham, Shalev, Stavit, Elpeleg, Orly, Saada, Ann
Publicado no JIMD Rep (2016)

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Por Kettwig, Matthias, Elpeleg, Orly, Wegener, Eike, Dreha-Kulaczewski, Steffi, Henneke, Marco, Gärtner, Jutta, Huppke, Peter
Publicado no BMC Neurol (2016)

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

Por Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut
Publicado em 2012

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

Por Melchionda, Laura, Damseh, Nadirah S., Abu Libdeh, Bassam Y., Nasca, Alessia, Elpeleg, Orly, Zanolini, Alice, Ghezzi, Daniele
Publicado no Front Genet (2014)

A human laterality disorder associated with a homozygous WDR16 deletion

Por Ta-Shma, Asaf, Perles, Zeev, Yaacov, Barak, Werner, Marion, Frumkin, Ayala, Rein, Azaria JJT, Elpeleg, Orly
Publicado no Eur J Hum Genet (2015)

Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

Por Edvardson, Simon , Shaag, Avraham , Kolesnikova, Olga , Gomori, John Moshe , Tarassov, Ivan , Einbinder, Tom , Saada, Ann , Elpeleg, Orly 
Publicado em 2007

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

Por Saada, Ann, Edvardson, Simon, Rapoport, Matan, Shaag, Avraham, Amry, Khaled, Miller, Chaya, Lorberboum-Galski, Haya, Elpeleg, Orly
Publicado em 2008

Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

Por Shteyer, Eyal, Saada, Ann, Shaag, Avraham, Al-Hijawi, Fida' Aziz, Kidess, Rojette, Revel-Vilk, Shoshanah, Elpeleg, Orly
Publicado em 2009

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

Por Molho-Pessach, Vered, Lerer, Israela, Abeliovich, Dvorah, Agha, Ziad, Abu Libdeh, Abdulasalam, Broshtilova, Valentina, Elpeleg, Orly, Zlotogorski, Abraham
Publicado em 2008

FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

Por Ghezzi, Daniele, Saada, Ann, D'Adamo, Pio, Fernandez-Vizarra, Erika, Gasparini, Paolo, Tiranti, Valeria, Elpeleg, Orly, Zeviani, Massimo
Publicado em 2008

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

Por Abdulhag, Ulla Najwa, Soiferman, Devorah, Schueler-Furman, Ora, Miller, Chaya, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon, Saada, Ann
Publicado no Eur J Hum Genet (2015)

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

Por Abu-Libdeh, Bassam, Douiev, Liza, Amro, Sarah, Shahrour, Maher, Ta-Shma, Asaf, Miller, Chaya, Elpeleg, Orly, Saada, Ann
Publicado no Eur J Hum Genet (2017)

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

Por Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A
Publicado em 2009

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

Por Erlich, Yaniv, Edvardson, Simon, Hodges, Emily, Zenvirt, Shamir, Thekkat, Pramod, Shaag, Avraham, Dor, Talya, Hannon, Gregory J., Elpeleg, Orly
Publicado em 2011

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit

Por Zeharia, Avraham, Friedman, Jonathan R, Tobar, Ana, Saada, Ann, Konen, Osnat, Fellig, Yacov, Shaag, Avraham, Nunnari, Jodi, Elpeleg, Orly
Publicado no Eur J Hum Genet (2016)

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

Por Giunta, Michele, Edvardson, Shimon, Xu, Yaobo, Schuelke, Markus, Gomez-Duran, Aurora, Boczonadi, Veronika, Elpeleg, Orly, Müller, Juliane S., Horvath, Rita
Publicado no Hum Mol Genet (2016)