Journal of neurogenetics

Keyphrases

Publications

2024

Shivani Sharma, Anita Mahadevan, Gayathri Narayanappa, Monojit Debnath, Periyasamy Govindaraj, Sumanth Shivaram, Doniparthi V Seshagiri, Ramesh Siram, Akhilesh Shroti, Parayil S Bindu, Yasha T Chickabasaviah, Arun B Taly, Madhu Nagappa
Exploring the evidence for mitochondrial dysfunction and genetic abnormalities in the etiopathogenesis of tropical ataxic neuropathy. Journal of neurogenetics (2024)
Paulo A Ferreira
Personal essay of a rookie's journey with Bill Pak and his legacy: tales and perspectives on PI-PLC, NorpA and cyclophilin, NinaA - William L. Pak, PhD., 1932-2023: in memoriam. Journal of neurogenetics (2024)
Hiroyuki Matsumoto
Tribute to Dr. William L. Pak. Journal of neurogenetics (2024)
Pingfei Jin, Yong Li, Yao Li
Meta-analysis of the association between C9orf72 repeats and neurodegeneration diseases. Journal of neurogenetics (2024)
Annabelle Arlt, Esra Akova-Öztürk, Anja Schirmacher, Bernhard Schlüter, Stephan Rust, Gerd Meyer Zu Hörste, Heinz Wiendl, Sarah Wiethoff
SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause. Journal of neurogenetics (2024)
Mamiko Ozaki
A memorial piece of my experience with Bill Pak. Journal of neurogenetics (2024)
Asal Asghari Sarfaraz, Neda Jabbarpour, Mortaza Bonyadi, Mohammad Khalaj-Kondori
Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder. Journal of neurogenetics (2024)
Barry Ganetzky
A tribute to Bill Pak, unsung hero of neurogenetics. Journal of neurogenetics (2024)
Baruch Minke
The pioneering use of the PDA phenotype by Bill Pak for screening a network of phototransduction genes and the associated signaling pathways. Journal of neurogenetics (2024)
Mina Lashkarboloki, Amin Jahanbakhshi, Seyed Javad Mowal, Hassan Bjeije, Bahram Mohammad Soltani
Oncogenic roles of long non-coding RNAs in essential glioblastoma signaling pathways. Journal of neurogenetics (2024)
Paulo A Ferreira
Personal essay of a rookie's journey with Bill Pak and his legacy: tales and perspectives on PI-PLC, NorpA and cyclophilin, NinaA - William L. Pak, PhD., 1932-2023: in memoriam. Journal of neurogenetics (2024)
Robert Lalonde, Catherine Strazielle
The DST gene in neurobiology. Journal of neurogenetics (2024)
Martin G Burg
Bill Pak: reflections on mentoring. Journal of neurogenetics (2024)
Mina Lashkarboloki, Amin Jahanbakhshi, Seyed Javad Mowal, Hassan Bjeije, Bahram Mohammad Soltani
Oncogenic roles of long non-coding RNAs in essential glioblastoma signaling pathways. Journal of neurogenetics (2024)
Qiuju Wang, Xiaonan Wu, Jiao Zhang, Jin Li, Hongyang Wang, Qiuju Wang
Global research landscape on the contribution of de novo mutations to human genetic diseases over the past 20 years: bibliometric analysis. Journal of neurogenetics (2024)
Jasmine Policherla, Fatema J Serajee, Salman Rashid, A H M Mahbubul Huq
Carbamazepine responsive episodic dystonia and hallucination due to pyruvate dehydrogenase E2 (DLAT) gene mutation. Journal of neurogenetics (2024)
Ralph J Greenspan
Memoir of the early years of the CSHL summer Drosophila neurobiology course: 1984-1985. Journal of neurogenetics (2024)
Mehrnaz Afkhami
Neurobiology of egg-laying behavior in Drosophila : neural control of the female reproductive system. Journal of neurogenetics (2024)

volume 38, number 1, 2024

volume 37, number 4, 2023

Cyrine Jeridi, Amine Rachdi, Fatma Nabli, Zacharia Saied, Rania Zouari, Dina Ben Mohamed, Mariem Ben Said, Saber Masmoudi, Samia Ben Sassi, Rim Amouri
Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes. Journal of neurogenetics 37 (4) (2023)
Cyrine Jeridi, Amine Rachdi, Fatma Nabli, Zacharia Saied, Rania Zouari, Dina Ben Mohamed, Mariem Ben Said, Saber Masmoudi, Samia Ben Sassi, Rim Amouri
Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes. Journal of neurogenetics 37 (4) (2023)

volume 36, number 2-3, 2022

Chengyong Guo, Shuo Liu, Tao Zhang, Jipeng Yang, Zhaohui Liang, Shengkui Lu
Knockdown of PHLDA2 promotes apoptosis and autophagy of glioma cells through the AKT/mTOR pathway. Journal of neurogenetics 36 (2-3) (2022)
Ashok Reddy Dinasarapu, Diane J Sutcliffe, Fatemeh Seifar, Jasper E Visser, H A Jinnah
Abnormalities of neural stem cells in Lesch-Nyhan disease. Journal of neurogenetics 36 (2-3) (2022)
Atsushi Ueda, Tristan C D G O'Harrow, Xiaomin Xing, Salleh Ehaideb, J Robert Manak, Chun-Fang Wu
Abnormal larval neuromuscular junction morphology and physiology in Drosophila prickle isoform mutants with known axonal transport defects and adult seizure behavior. Journal of neurogenetics 36 (2-3) (2022)
Chun-Fang Wu
The origins of the force-from-lipid principle and the founding member of the TRP channel superfamily. Journal of neurogenetics 36 (2-3) (2022)
Boris Martinac, Ching Kung
The force-from-lipid principle and its origin, a ' what is true for E. coli is true for the elephant' refrain. Journal of neurogenetics 36 (2-3) (2022)
Baruch Minke, William L Pak
The light-activated TRP channel: the founding member of the TRP channel superfamily. Journal of neurogenetics 36 (2-3) (2022)

volume 36, number 4, 2022

Rafiullah Rafiullah, Alia M Albalawi, Sultan R Alaradi, Majed Alluqmani, Muhammad Mushtaq, Abdul Wali, Sulman Basit
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. Journal of neurogenetics 36 (4) (2022)
Rafiullah Rafiullah, Alia M Albalawi, Sultan R Alaradi, Majed Alluqmani, Muhammad Mushtaq, Abdul Wali, Sulman Basit
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. Journal of neurogenetics 36 (4) (2022)
Rafiullah Rafiullah, Alia M Albalawi, Sultan R Alaradi, Majed Alluqmani, Muhammad Mushtaq, Abdul Wali, Sulman Basit
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. Journal of neurogenetics 36 (4) (2022)
Rafiullah Rafiullah, Alia M Albalawi, Sultan R Alaradi, Majed Alluqmani, Muhammad Mushtaq, Abdul Wali, Sulman Basit
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay. Journal of neurogenetics 36 (4) (2022)

Journal of neurogenetics

Keyphrases

Publications

2024

volume 38, number 1, 2024

volume 38, number 2, 2024

volume 37, number 4, 2024

2023

volume 37, number 4, 2023

volume 36, number 2-3, 2022

volume 36, number 4, 2022