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Author/Creator Leshinsky‐Silver, Esther

1. De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. Issue 6 (1st May 2015)

Authors:
Esmaeeli Nieh, Sahar; Madou, Maura R. Z.; Sirajuddin, Minhajuddin; Fregeau, Brieana; McKnight, Dianalee; Lexa, Katrina; Strober, Jonathan; Spaeth, Christine; Hallinan, Barbara E.; Smaoui, Nizar; Pappas, John G.; Burrow, Thomas A.; McDonald, Marie T.; Latibashvili, Mariam; Leshinsky‐Silver, Esther...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Issue 6(2015:Jun.)
Page Start:
623
Record Type:
Journal Article
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2. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Issue 7 (2nd June 2014)

Authors:
Ohba, Chihiro; Kato, Mitsuhiro; Takahashi, Satoru; Lerman‐Sagie, Tally; Lev, Dorit; Terashima, Hiroshi; Kubota, Masaya; Kawawaki, Hisashi; Matsufuji, Mayumi; Kojima, Yasuko; Tateno, Akihiko; Goldberg‐Stern, Hadassa; Straussberg, Rachel; Marom, Dafna; Leshinsky‐Silver, Esther; Nakashima, Mitsuko; ...
Journal:
Epilepsia
Issue:
Volume 55:Issue 7(2014:Jul.)
Page Start:
994
Record Type:
Journal Article
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3. EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO. Issue 4 (23rd January 2017)

Authors:
Skopkova, Martina; Hennig, Friederike; Shin, Byung‐Sik; Turner, Clesson E.; Stanikova, Daniela; Brennerova, Katarina; Stanik, Juraj; Fischer, Ute; Henden, Lyndal; Müller, Ulrich; Steinberger, Daniela; Leshinsky‐Silver, Esther; Bottani, Armand; Kurdiova, Timea; Ukropec, Jozef; Nyitrayova, Olga; Ko...
Journal:
Human mutation
Issue:
Volume 38:Issue 4(2017)
Page Start:
409
Record Type:
Journal Article
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4. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect. Issue 5 (8th November 2018)

Authors:
Metz, Kyle A.; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M.; Wagner, Bart E.; Rosenfeld, Jill A.; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E.; Wang, Tim Sen; Haberlandt, Edda D.; Anderson, Glenn W.; Leshinsky‐Silver, Esther; Bi, Weimin; Markello, Thomas C.; Pratt, Marsha; M...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
766
Record Type:
Journal Article
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6. The molecular and phenotypic spectrum of IQSEC2‐related epilepsy. (26th September 2016)

Authors:
Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D.; Kossoff, Eric H.; Willems, Marjolaine; Geneviève, David; Tran‐Mau‐Them, Frederic; Epstein, O...
Journal:
Epilepsia
Issue:
Volume 57:issue 11(2016)
Page Start:
1858
Record Type:
Journal Article
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