Results 161 to 170 of about 77,821 (298)

RCC1 neuropathy mimics childhood axonal Guillain–Barré syndrome with variable clinical severity and survival

Developmental Medicine &Child Neurology, EarlyView.
We present 10 patients who presented with acute onset axonal neuropathy following infection, mimicking childhood axonal Guillain–Barré syndrome. We review phenotypes, undertake survival analysis, and assess function of novel RCC1 variants in vitro. Abstract Aim To assess the phenotype and genotype of 10 new patients with biallelic RCC1 variants who ...
Han Zhang, Beril Din, John H. McDermott, RCC1 Neuropathy Study Group, Adam Jackson, Halil Tuna Akar, Ali Dursun, Riza Koksal‐Ozgul, Reza Sadjadi, Lauren Politica, Stephan Zuchner, Reza Maroofian, Usman Ali, Dudu Turkyilmaz, Jawadur Rahman, Hasan Bas, Khalid Hussain, Khalid A Fakhro, Aljazi Al‐Maraghi, Annemarie CS Knijnenburg, Monique Engel, Debby Hellebrekers, Heike Losch, Sietse M Aukema, Marlene Kullik, Christoph Geier, Raymond T. O'Keefe, William G. Newman, J. Robert Harkness   +28 more
wiley   +1 more source

RhoA in postnatal spinal motoneuron is essential for peripheral myelination. [PDF]

Commun Biol
He Y, Xu S, Zou Y, Zhao M, Li M, Cai J, Ma X, Zhang A, Wang X, Guo J.   +9 more
europepmc   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

Cdk7 Regulates Myelin Sheath Morphology and Lipid Homeostasis in Schwann Cells. [PDF]

Glia
Schumacher N, Pieltain A, Tocquin P, Thelen N, Lavergne A, Masar N, Terrasi R, Leloup R, Muccioli G, Gailly P, Arthur-Farraj P, Vandenbosch R, Franzen R.   +12 more
europepmc   +1 more source

Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets [PDF]

MedComm (2020)
Proper myelin formation is crucial for normal neural circuit function, while myelin deficiency can lead to neural circuit dysfunction and cognitive decline, notably in Alzheimer's disease and other central nervous system demyelinating disorders. This review summarizes central myelin's structure and function, demyelination biomarkers and pathological ...
Huang L, Cheng P, Liu G, Xiang Y, Hong Z, Le W.   +5 more
europepmc   +2 more sources

High‐resolution spatial transcriptomic atlas of mouse soleus muscle: Unveiling single cell and subcellular heterogeneity in health and denervation

The FEBS Journal, EarlyView.
Seq‐Scope maps skeletal muscle transcriptomes at high spatial resolution while preserving histological context, revealing distinct responses of myofibers, neuromuscular junctions, and stromal cells to denervation. This spatial view uncovers fiber type‐specific and localized remodeling across intact muscle tissue.
Jer‐En Hsu, Lloyd Ruiz, Yongha Hwang, Steve D. Guzman, Chun‐Seok Cho, Weiqiu Cheng, Yichen Si, Peter Macpherson, Angelo Anacleto, Qingyang Zhao, Xiaoya Zhao, Mitchell Schrank, Goo Jun, Hyun Min Kang, Myungjin Kim, Susan V. Brooks, Jun Hee Lee   +16 more
wiley   +1 more source

GLYCOPROTEINS IN MYELIN [PDF]

Journal of Histochemistry & Cytochemistry, 1968
openaire   +2 more sources

MYELIN CARBOHYDRATES [PDF]

Journal of Histochemistry & Cytochemistry, 1968
C W, Adams, O B, Bayliss
openaire   +2 more sources

Disentangling direct and indirect genetic pathways to neurodevelopmental risk: brain structure and behavior in a population‐based parent–offspring trio study

Journal of Child Psychology and Psychiatry, EarlyView.
Background Neurodevelopmental disorders (NDDs) are highly heritable, yet the pathways linking parental genetic liability to child outcomes remain poorly understood. Traditional designs cannot easily separate genes transmitted to the child from environmental influences shaped by parental genotypes.
Fin J. E. van Uum, Yllza Xerxa, Alexander Neumann, Jean‐Baptiste Pingault, Charlotte A. M. Cecil, Mina Shahisavandi, Koen Bolhuis, Boglarka Kovacs, Henning Tiemeier, Ryan L. Muetzel, Neeltje E. M. van Haren   +10 more
wiley   +1 more source

Deletion of <i>wfs1</i> Impairs Oligodendrocyte Precursor Cells Dorsal Distribution and Myelination Through the <i>wfs1</i>-<i>hmgcs1</i> Axis in Zebrafish. [PDF]

Biology (Basel)
Tang X, Zhao Z, Yao K, Fan D, Li K, Zhou J, Wang Z, Hu B.   +7 more
europepmc   +1 more source