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American Journal of Medical Genetics. Part A
|
December 15, 2018
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy
Leslie E W LaConte, Vrushali Chavan, Stephanie DeLuca, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 25, 2010
Piccolo and bassoon maintain synaptic vesicle clustering without directly participating in vesicle exocytosis
Konark Mukherjee, Xiaofei Yang, Stefan H Gerber, et al.
Journal of Medical Genetics
|
February 12, 2022
Complete loss of the X-linked gene <i>CASK</i> causes severe cerebellar degeneration
Paras A Patel, Julia V Hegert, Ingrid Cristian, et al.
Nature
|
January 18, 2002
RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone
Susanne Schoch, Pablo E Castillo, Tobias Jo, et al.
Acta Histochemica
|
February 26, 2013
Active zone protein expression changes at the key stages of cerebellar cortex neurogenesis in the rat
Judyta Karolina Juranek, Konark Mukherjee, Tabrez J Siddiqui, et al.
Investigative Ophthalmology & Visual Science
|
August 20, 2019
Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia
Alicia Kerr, Paras A Patel, Leslie E W LaConte, et al.
Cells
|
October 28, 2025
RAGE Cytosolic Partner Diaph1 Does Not Play an Essential Role in Diabetic Peripheral Neuropathy Progression
Kamila Zglejc-Waszak, Bernard Kordas, Agnieszka Korytko, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 4, 2013
Ultrahigh-resolution imaging reveals formation of neuronal SNARE/Munc18 complexes in situ
Alexandros Pertsinidis, Konark Mukherjee, Manu Sharma, et al.
International Journal of Molecular Sciences
|
November 27, 2025
The Effect of RAGE-Diaph1 Signaling Inhibition on the Progression of Peripheral Neuropathy in Diabetic Mice
Kamila Zglejc-Waszak, Agnieszka Korytko, Bernard Kordas, et al.
Human Genetics
|
February 11, 2018
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction
Leslie E W LaConte, Vrushali Chavan, Abdallah F Elias, et al.
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of 5
Search research articles
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Showing results (31-40 of 42) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
December 15, 2018
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy
Leslie E W LaConte, Vrushali Chavan, Stephanie DeLuca, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 25, 2010
Piccolo and bassoon maintain synaptic vesicle clustering without directly participating in vesicle exocytosis
Konark Mukherjee, Xiaofei Yang, Stefan H Gerber, et al.
Journal of Medical Genetics
|
February 12, 2022
Complete loss of the X-linked gene <i>CASK</i> causes severe cerebellar degeneration
Paras A Patel, Julia V Hegert, Ingrid Cristian, et al.
Nature
|
January 18, 2002
RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone
Susanne Schoch, Pablo E Castillo, Tobias Jo, et al.
Acta Histochemica
|
February 26, 2013
Active zone protein expression changes at the key stages of cerebellar cortex neurogenesis in the rat
Judyta Karolina Juranek, Konark Mukherjee, Tabrez J Siddiqui, et al.
Investigative Ophthalmology & Visual Science
|
August 20, 2019
Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia
Alicia Kerr, Paras A Patel, Leslie E W LaConte, et al.
Cells
|
October 28, 2025
RAGE Cytosolic Partner Diaph1 Does Not Play an Essential Role in Diabetic Peripheral Neuropathy Progression
Kamila Zglejc-Waszak, Bernard Kordas, Agnieszka Korytko, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 4, 2013
Ultrahigh-resolution imaging reveals formation of neuronal SNARE/Munc18 complexes in situ
Alexandros Pertsinidis, Konark Mukherjee, Manu Sharma, et al.
International Journal of Molecular Sciences
|
November 27, 2025
The Effect of RAGE-Diaph1 Signaling Inhibition on the Progression of Peripheral Neuropathy in Diabetic Mice
Kamila Zglejc-Waszak, Agnieszka Korytko, Bernard Kordas, et al.
Human Genetics
|
February 11, 2018
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction
Leslie E W LaConte, Vrushali Chavan, Abdallah F Elias, et al.
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of 5