Miriam H. Meisler - Publications, H-index & Citations

Miriam H. Meisler

Baylor College of Medicine

76H指数

304论文数

2.1W被引数

收录论文 102

发表时间

Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy

NEUROBIOLOGY OF DISEASE

IF5.6

2024-09-01

OAAI

Yu, Wenxi; Hill, Sophie F.; Zhu, Limei; Demetriou, Yiannos; Reger, Faith; Mattis, Joanna; Meisler, Miriam H.

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder SLC12A9的双等位基因功能丧失变体导致溶酶体功能障碍和综合征性神经发育障碍

GENETICS IN MEDICINE

IF6.2

2024-05-01

OAAI

Accogli, Andrea; Park, Young N.; Lenk, Guy M.; Severino, Mariasavina; Scala, Marcello; Denecke, Jonas; Hempel, Maja; Lessel, Davor; Kortuem, Fanny; Salpietro, Vincenzo; de Marco, Patrizia; Guerrisi, Sara; Torella, Annalaura; Nigro, Vincenzo; Srour, Myriam; Turro, Ernest; Labarque, Veerle; Freson, Kathleen; Piatelli, Gianluca; Capra, Valeria; Kitzman, Jacob O.; Meisler, Miriam H.

Long-Term Downregulation of the Sodium Channel Gene Scn8a Is Therapeutic in Mouse Models of SCN8A Epilepsy

ANNALS OF NEUROLOGY

IF7.7

2024-01-06

OAAI

Hill, Sophie F.; Yu, Wenxi; Ziobro, Julie; Chalasani, Sanjna; Reger, Faith; Meisler, Miriam H.

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy

FRONTIERS IN NEUROSCIENCE

IF3.2

2023-10-13

OAAI

Hill, Sophie F.; Jafar-Nejad, Paymaan; Rigo, Frank; Meisler, Miriam H.

Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-12-01

OAAI

Lenk, Guy M.; Meisler, Miriam H.

Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2

EPILEPSIA

IF6.6

2022-08-11

OAAI

Hill, Sophie F.; Ziobro, Julie M.; Jafar-Nejad, Paymaan; Rigo, Frank; Meisler, Miriam H.

Social Deficits and Cerebellar Degeneration in Purkinje Cell Scn8a Knockout Mice 浦肯野细胞Scn8a基因敲除小鼠的社会缺陷和小脑变性

FRONTIERS IN MOLECULAR NEUROSCIENCE

IF3.8

2022-04-26

OAAI

Yang, Xiaofan; Yin, Hongqiang; Wang, Xiaojing; Sun, Yueqing; Bian, Xianli; Zhang, Gaorui; Li, Anning; Cao, Aihua; Li, Baomin; Ebrahimi-Fakhari, Darius; Yang, Zhuo; Meisler, Miriam H.; Liu, Qiji

Correction of the hypomorphic Gabra2 splice site variant in mouse strain C57BL/6J modifies the severity of Scn8a encephalopathy

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-01-01

OAAI

Yu, Wenxi; Mulligan, Megan K.; Williams, Robert W.; Meisler, Miriam H.

Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse

HUMAN MOLECULAR GENETICS

IF3.2

2021-04-03

OAAI

Yu, Wenxi; Smolen, Corrine E.; Hill, Sophie F.; Meisler, Miriam H.

Sodium channelopathies in neurodevelopmental disorders (vol 22, 152, 2021)

NATURE REVIEWS NEUROSCIENCE

IF26.7

2021-03-08

OAAI

Meisler, Miriam H.; Hill, Sophie F.; Yu, Wenxi

Postictal Death Is Associated with Tonic Phase Apnea in a Mouse Model of Sudden Unexpected Death in Epilepsy

ANNALS OF NEUROLOGY

IF7.7

2021-03-06

OAAI

Wenker, Ian C.; Teran, Frida A.; Wengert, Eric R.; Wagley, Pravin K.; Panchal, Payal S.; Blizzard, Elizabeth A.; Saraf, Priyanka; Wagnon, Jacy L.; Goodkin, Howard P.; Meisler, Miriam H.; Richerson, George B.; Patel, Manoj K.

Sodium channelopathies in neurodevelopmental disorders

NATURE REVIEWS NEUROSCIENCE

IF26.7

2021-02-02

100

OAAI

Meisler, Miriam H.; Hill, Sophie F.; Yu, Wenxi

Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse*

EPILEPSIA

IF6.6

2020-11-02

OAAI

Yu, Wenxi; Hill, Sophie F.; Xenakis, James G.; Pardo-Manuel de Villena, Fernando; Wagnon, Jacy L.; Meisler, Miriam H.

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

ANNALS OF NEUROLOGY

IF7.7

2020-02-06

108

OAAI

Lenk, Guy M.; Jafar-Nejad, Paymaan; Hill, Sophie F.; Huffman, Lucas D.; Smolen, Corrine E.; Wagnon, Jacy L.; Petit, Hayley; Yu, Wenxi; Ziobro, Julie; Bhatia, Kritika; Parent, Jack; Giger, Roman J.; Rigo, Frank; Meisler, Miriam H.

SCN8A encephalopathy: Mechanisms and models

EPILEPSIA

IF6.6

2020-01-06

OAAI

Meisler, Miriam H.

Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

EPILEPSIA

IF6.6

2019-10-17

OAAI

Wengert, Eric R.; Tronhjem, Cathrine E.; Wagnon, Jacy L.; Johannesen, Katrine M.; Petit, Hayley; Krey, Ilona; Saga, Anusha U.; Panchal, Payal S.; Strohm, Samantha M.; Lange, Joern; Kamphausen, Susanne B.; Rubboli, Guido; Lemke, Johannes R.; Gardella, Elena; Patel, Manoj K.; Meisler, Miriam H.; Moller, Rikke S.

CRISPR knockout screen implicates three genes in lysosome function

SCIENTIFIC REPORTS

IF3.9

2019-07-03

OAAI

Lenk, Guy M.; Park, Young N.; Lemons, Rosemary; Flynn, Emma; Plank, Margaret; Frei, Christen M.; Davis, Michael J.; Gregorka, Brian; Swanson, Joel A.; Meisler, Miriam H.; Kitzman, Jacob O.

The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation (vol 132, jcs229500, 2019)

JOURNAL OF CELL SCIENCE

IF3.6

2019-03-28

OAAI

Bissig, Christin; Croise, Pauline; Heiligenstein, Xavier; Hurbain, Ilse; Lenk, Guy M.; Kaufman, Emily; Sannerud, Ragna; Annaert, Wim; Meisler, Miriam H.; Weisman, Lois S.; Raposo, Graca; van Niel, Guillaume

Cerebral hypomyelination associated with biallelic variants of FIG4

HUMAN MUTATION

IF3.7

2019-02-28

OAAI

Lenk, Guy M.; Berry, Ian R.; Stutterd, Chloe A.; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul-Fernandez, Miriam; Rodriguez-Casero, Victoria; Lockhart, Paul J.; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M.; Christodoulou, John; Skibina, Olga; Ruddle, Jonathan; Tan, Tiong Y.; Leventer, Richard J.; Livingston, John H.; Meisler, Miriam H.

Prominent role of forebrain excitatory neurons in SCN8A encephalopathy

BRAIN

IF11.7

2019-01-02

OAAI

Bunton-Stasyshyn, Rosie K. A.; Wagnon, Jacy L.; Wengert, Eric R.; Barker, Bryan S.; Faulkner, Alexa; Wagley, Pravin K.; Bhatia, Kritika; Jones, Julie M.; Maniaci, Marissa R.; Parent, Jack M.; Goodkin, Howard P.; Patel, Manoj K.; Meisler, Miriam H.

研究方向