Genetics and biology of microcephaly and lissencephaly

Por Mochida, Ganeshwaran H.
Publicado em 2009

Neuropsychological Function in a Child with 18p Deletion Syndrome: A Case Report

Por Willoughby, Brian L., Favero, Marcus, Mochida, Ganeshwaran H., Braaten, Ellen B.
Publicado em 2014

An Autosomal Recessive Form of Spastic Cerebral Palsy (CP) with Microcephaly and Mental Retardation

Por Rajab, Anna, Yoo, Seung-Yun, Abdulgalil, Aiman, Kathiri, Salem, Ahmed, Riaz, Mochida, Ganeshwaran H., Bodell, Adria, Barkovich, A. James, Walsh, Christopher A.
Publicado em 2006

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Por Mochida, Ganeshwaran H., Mahajnah, Muhammad, Hill, Anthony D., Basel-Vanagaite, Lina, Gleason, Danielle, Hill, R. Sean, Bodell, Adria, Crosier, Moira, Straussberg, Rachel, Walsh, Christopher A.
Publicado em 2009

Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcificat...

Por Akawi, Nadia A., Canpolat, Fuat E., White, Susan M., Quilis-Esquerra, Josep, Sanchez, Martin Morales, Gamundi, Maria José, Mochida, Ganeshwaran H., Walsh, Christopher A., Ali, Bassam R., Al-Gazali, Lihadh
Publicado em 2013

Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures

Por Al-Maawali, Almundher, Barry, Brenda J., Rajab, Anna, El-Quessny, Malak, Seman, Ann, Coury, Stephanie Newton, Barkovich, A. James, Yang, Edward, Walsh, Christopher A., Mochida, Ganeshwaran H., Stoler, Joan M.
Publicado no Am J Med Genet A (2015)

Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion

Por Kouprina, Natalay, Pavlicek, Adam, Mochida, Ganeshwaran H, Solomon, Gregory, Gersch, William, Yoon, Young-Ho, Collura, Randall, Ruvolo, Maryellen, Barrett, J. Carl, Woods, C. Geoffrey, Walsh, Christopher A, Jurka, Jerzy, Larionov, Vladimir
Publicado em 2004

Microcephaly proteins Wdr62 and Aspm define a mother centriole complex regulating centriole biogenesis, apical complex and cell fate

Por Jayaraman, Divya, Kodani, Andrew, Gonzalez, Dilenny M., Mancias, Joseph D., Mochida, Ganeshwaran H., Vagnoni, Cristiana, Johnson, Jeffrey, Krogan, Nevan, Harper, J. Wade, Reiter, Jeremy F., Yu, Timothy W., Bae, Byoung-il, Walsh, Christopher A.
Publicado no Neuron (2016)

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Por Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.
Publicado em 2011

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Por Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.
Publicado em 2011

Developmental and Degenerative Features in a Complicated Spastic Paraplegia

Por Manzini, M Chiara, Rajab, Anna, Maynard, Thomas M, Mochida, Ganeshwaran H, Tan, Wen-Hann, Nasir, Ramzi, Hill, R Sean, Gleason, Danielle, Al Saffar, Muna, Partlow, Jennifer N, Barry, Brenda J, Vernon, Mike, LaMantia, Anthony-Samuel, Walsh, Christopher A
Publicado em 2010

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Por Yu, Timothy W., Mochida, Ganeshwaran H., Tischfield, David J., Sgaier, Sema K., Flores-Sarnat, Laura, Sergi, Consolato M., Topçu, Meral, McDonald, Marie T., Barry, Brenda J., Felie, Jillian, Sunu, Christine, Dobyns, William B., Folkerth, Rebecca D., Barkovich, A. James, Walsh, Christopher A.
Publicado em 2010

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Por Mochida, Ganeshwaran H., Ganesh, Vijay S., Felie, Jillian M., Gleason, Danielle, Hill, R. Sean, Clapham, Katie Rose, Rakiec, Daniel, Tan, Wen-Hann, Akawi, Nadia, Al-Saffar, Muna, Partlow, Jennifer N., Tinschert, Sigrid, Barkovich, A. James, Ali, Bassam, Al-Gazali, Lihadh, Walsh, Christopher A.
Publicado em 2010

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Por Hills, L. Benjamin, Masri, Amira, Konno, Kotaro, Kakegawa, Wataru, Lam, Anh-Thu N., Lim-Melia, Elizabeth, Chandy, Nandini, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Nasir, Ramzi, Stoler, Joan M., Barkovich, A. James, Watanabe, Masahiko, Yuzaki, Michisuke, Mochida, Ganeshwaran H.
Publicado em 2013

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Por Ahmed, Mustafa Y., Chioza, Barry A., Rajab, Anna, Schmitz-Abe, Klaus, Al-Khayat, Aisha, Al-Turki, Saeed, Baple, Emma L., Patton, Michael A., Al-Memar, Ali Y., Hurles, Matthew E., Partlow, Jennifer N., Hill, R. Sean, Evrony, Gilad D., Servattalab, Sarah, Markianos, Kyriacos, Walsh, Christopher A., Crosby, Andrew H., Mochida, Ganeshwaran H.
Publicado no Neurology (2015)

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

Por Mochida, Ganeshwaran H., Ganesh, Vijay S., de Michelena, Maria I., Dias, Hugo, Atabay, Kutay D., Kathrein, Katie L., Huang, Emily, Hill, R. Sean, Felie, Jillian M., Rakiec, Daniel, Gleason, Danielle, Hill, Anthony D., Malik, Athar N., Barry, Brenda J., Partlow, Jennifer N., Tan, Wen-Hann, Glader, Laurie J., Barkovich, A. James, Dobyns, William B., Zon, Leonard I., Walsh, Christopher A.
Publicado em 2012

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Por Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.
Publicado no Am J Hum Genet (2015)

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Por Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N., Ville, Dorothée, Dulac, Olivier, Yu, Tim W., Lam, Anh-Thu N., Servattalab, Sarah, Rodriguez, Jacqueline, Boddaert, Nathalie, Munnich, Arnold, Colleaux, Laurence, Zon, Leonard I., Söll, Dieter, Walsh, Christopher A., Nabbout, Rima
Publicado em 2014

METTL23, a transcriptional partner of GABPA, is essential for human cognition

Por Reiff, Rachel E., Ali, Bassam R., Baron, Byron, Yu, Timothy W., Ben-Salem, Salma, Coulter, Michael E., Schubert, Christian R., Hill, R. Sean, Akawi, Nadia A., Al-Younes, Banan, Kaya, Namik, Evrony, Gilad D., Al-Saffar, Muna, Felie, Jillian M., Partlow, Jennifer N., Sunu, Christine M., Schembri-Wismayer, Pierre, Alkuraya, Fowzan S., Meyer, Brian F., Walsh, Christopher A., Al-Gazali, Lihadh, Mochida, Ganeshwaran H.
Publicado em 2014

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

Por Hu, Wen F., Pomp, Oz, Ben-Omran, Tawfeg, Kodani, Andrew, Henke, Katrin, Mochida, Ganeshwaran H., Yu, Timothy W., Woodworth, Mollie B., Bonnard, Carine, Raj, Grace Selva, Tan, Thong Teck, Hamamy, Hanan, Masri, Amira, Shboul, Mohammad, Al Saffar, Muna, Partlow, Jennifer N., Al-Dosari, Mohammed, Alazami, Anas, Alowain, Mohammed, Alkuraya, Fowzan S., Reiter, Jeremy F., Harris, Matthew P., Reversade, Bruno, Walsh, Christopher A.
Publicado no Neuron (2014)