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Author/Creator Anikster, Yair

1. A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Issue 4 (April 2022)

Authors:
Issler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-López, José M.; Tabernero, Lydia; Patel, Vaksha; Kesselheim, Anne; Klootwijk, Enriko D.; Stanescu, Horia C.; Dumitriu, Simona; Iancu, ...
Journal:
Journal of the American Society of Nephrology
Issue:
Volume 33:Issue 4(2022)
Page Start:
732
Record Type:
Journal Article
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2. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. Issue 7 (20th June 2012)

Authors:
Zivony-Elboum, Yifat; Westbroek, Wendy; Kfir, Nehama; Savitzki, David; Shoval, Yishay; Bloom, Assnat; Rod, Raya; Khayat, Morad; Gross, Bella; Samri, Walid; Cohen, Hector; Sonkin, Vadim; Freidman, Tatiana; Geiger, Dan; Fattal-Valevski, Aviva; Anikster, Yair; Waters, Aoife M; Kleta, Robert; Falik-Z...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 7(2012)
Page Start:
462
Record Type:
Journal Article
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3. A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds. Issue 5 (7th March 2020)

Authors:
Marek‐Yagel, Dina; Bolkier, Yoav; Barel, Ortal; Vardi, Amir; Mishali, David; Katz, Uriel; Salem, Yishay; Abudi, Shachar; Nayshool, Omri; Kol, Nitzan; Raas‐Rothschild, Annick; Rechavi, Gideon; Anikster, Yair; Pode‐Shakked, Ben
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
987
Record Type:
Journal Article
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4. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency. Issue 1 (8th November 2017)

Authors:
Malicdan, May Christine V.; Vilboux, Thierry; Ben‐Zeev, Bruria; Guo, Jennifer; Eliyahu, Aviva; Pode‐Shakked, Ben; Dori, Amir; Kakani, Sravan; Chandrasekharappa, Settara C.; Ferreira, Carlos R.; Shelestovich, Natalia; Marek‐Yagel, Dina; Pri‐Chen, Hadass; Blatt, Ilan; Niederhuber, John E.; He, Lang...
Journal:
Human mutation
Issue:
Volume 39:Issue 1(2018)
Page Start:
69
Record Type:
Journal Article
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5. Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia. Issue 2 (20th December 2022)

Authors:
Daas, Suha; Abu Salah, Nasser; Anikster, Yair; Barel, Ortal; Damseh, Nadirah S.; Dumin, Elena; Fattal‐Valevski, Aviva; Falik‐Zaccai, Tzipora C.; Habib, Clair; Josefsberg, Sagi; Korman, Stanley H.; Kneller, Katya; Landau, Yuval; Lerman‐Sagie, Tally; Mandel, Hanna; Manor, Yehoshua; Moady Abdalla, T...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 2(2023)
Page Start:
232
Record Type:
Journal Article
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6. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. (November 2015)

Authors:
Carmi, Nirit; Lev, Dorit; Leshinsky-Silver, Esther; Anikster, Yair; Blumkin, Lubov; Kivity, Sara; Lerman-Sagie, Tally; Zerem, Ayelet
Journal:
European journal of paediatric neurology
Issue:
Volume 19:Number 6(2015:Nov.)
Page Start:
733
Record Type:
Journal Article
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7. Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability. (June 2017)

Authors:
Schiff, Manuel; Haack, Tobias; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K.; Martinez, Aurora; Benoist, Jean-François; Heimer, Gali; Malicdan, May Christine V.; Ben-Zeev, Bruria; Blau, Nenad; Hoffmann, Geor...
Journal:
European journal of paediatric neurology
Issue:
Volume 21(2017)Supplement 1
Page Start:
e175
Record Type:
Journal Article
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8. CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. (November 2015)

Authors:
Heimer, Gali; Sadaka, Yair; Israelian, Lori; Feiglin, Ariel; Ruggieri, Alessandra; Marshall, Christian R.; Scherer, Stephen W.; Ganelin-Cohen, Esther; Marek-Yagel, Dina; Tzadok, Michal; Nissenkorn, Andreea; Anikster, Yair; Minassian, Berge A.; Zeev, Bruria Ben
Journal:
Journal of child neurology
Issue:
Volume 30:Number 13(2015:Nov.)
Page Start:
1749
Record Type:
Journal Article
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10. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. Issue 5 (14th February 2017)

Authors:
Mendes, Marisa I; Smith, Desirée EC; Pop, Ana; Lennertz, Pascal; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; van Dooren, Silvy JM; Anikster, Yair; Barić, Ivo; Boelen, Caroline; Campistol, Jaime; de Boer, Lonneke; Kariminejad, Ariana; Kayserili, Hulya; Roubertie, Agathe; Verbruggen, Krijn T; Via...
Journal:
Human mutation
Issue:
Volume 38:Issue 5(2017)
Page Start:
524
Record Type:
Journal Article
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