Results 181 to 190 of about 276,134 (314)

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

The impact of transcutaneous tibial nerve stimulation on brain function in patients with overactive bladder: a prospective longitudinal self-controlled study. [PDF]

Front Hum Neurosci
Wang Z, Xiao Y, Lyu X, Deng H, Li C, Shang D, Jin L, Liao L, Guo Y, Li X.   +9 more
europepmc   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Oligodendroglial somatic SNCA copy number gains are associated with inclusions and disease onset in multiple system atrophy. [PDF]

Acta Neuropathol
Morley C, Kalef-Ezra E, Perez-Rodriguez D, Jaunmuktane Z, Proukakis C.   +4 more
europepmc   +1 more source

Human cerebellar microstructure with 7T MRI: Spherical b-tensor encoding and super resolution reconstruction. [PDF]

Imaging Neurosci (Camb)
Brouwer EJP, van der Zwaag W, In 't Zandt R, Priovoulos N, Szczepankiewicz F, Nilsson M, Bloch KM.   +6 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Mapping brain volume changes in the zQ175DN mouse model of Huntington's disease: a longitudinal MRI study. [PDF]

Biomark Res
Vidas-Guscic N, Vasilkovska T, Pluym S, van Rijswijk J, Van Audekerke J, Tang H, Muñoz-Sanjuán I, Pustina D, Cachope R, Van der Linden A, Bertoglio D, Verhoye M.   +11 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Cerebellar Electrical Activity as a Marker for Predicting Brain Health and Disease: A Review. [PDF]

Brain Sci
Stojadinović G, Martać L, Kesić S, Petković B, Podgorac Kojadinović J.   +4 more
europepmc   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source