Issue 1/2024
Content (8 Articles)
New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Geraldine Zimmer-Bensch
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Shintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, Yukihiko Konishi, Kazuo Kubota, Emiko Kobayashi, Mitsuko Nakashima, Hirotomo Saitsu
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort
Nishu Tyagi, Bharathram Uppili, Pooja Sharma, Shaista Parveen, Sheeba Saifi, Abhinav Jain, Akhilesh Sonakar, Istaq Ahmed, Shweta Sahni, Uzma Shamim, Avni Anand, Varun Suroliya, Vivekanand Asokachandran, Achal Srivastava, Sridhar Sivasubbu, Vinod Scaria, Mohammed Faruq
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns
Wendi Huang, Ying Yang, Fengyu Che, Haibin Wu, Ying Ma, Yujuan Zhao
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
Stéphane Abramowicz, Alexandre Dentel, Maxime Chouraqui, Bahram Bodaghi, Sara Touhami
Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
N. Gammaldi, S. Doccini, S. Bernardi, M. Marchese, M. Cecchini, R. Ceravolo, S. Rapposelli, GM. Ratto, S. Rocchiccioli, F. Pezzini, F. M. Santorelli
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of Neurogenetics
Geraldine Zimmer-Bensch
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian