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Author/Creator Ortiz-Gonzalez, Xilma R.

1. Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. (February 2021)

Authors:
Abdelmoumen, Imane; Jimenez, Sandra; Valencia, Ignacio; Melvin, Joseph; Legido, Agustin; Diaz-Diaz, Mayela M.; Griffith, Christopher; Massingham, Lauren J.; Yelton, Melissa; Rodríguez-Hernández, Janice; Schnur, Rhonda E.; Walsh, Laurence E.; Cristancho, Ana G.; Bergqvist, Christina A.; McWalter, ...
Journal:
Journal of child neurology
Issue:
Volume 36:Number 2(2021)
Page Start:
93
Record Type:
Journal Article
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3. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021)

Authors:
Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El...
Journal:
Autophagy
Issue:
Volume 17:Issue 1(2021)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021)

Authors:
Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El...
Journal:
Autophagy
Issue:
Volume 17:Issue 1(2021)
Page Start:
1
Record Type:
Journal Article
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6. KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. (October 2016)

Authors:
Millichap, John J.; Park, Kristen L.; Tsuchida, Tammy; Ben-Zeev, Bruria; Carmant, Lionel; Flamini, Robert; Joshi, Nishtha; Levisohn, Paul M.; Marsh, Eric; Nangia, Srishti; Narayanan, Vinodh; Ortiz-Gonzalez, Xilma R.; Patterson, Marc C.; Pearl, Phillip L.; Porter, Brenda; Ramsey, Keri; McGinnis, E...
Journal:
Neurology
Issue:
Volume 2:Number 5(2016)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗