Results 151 to 160 of about 9,152,640 (254)

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Author Correction: Long-read sequencing reveals pre-meiotic gene conversion in sperm. [PDF]

Nature
Schweiger R, Lee S, Zhou C, Yang TP, Li S, Sanghvi R, Neville M, Smith K, Roberts K, Nessa A, Wadge S, Small KS, Campbell PJ, Almstrup K, Sudmant PH, Rahbari R, Durbin R.   +16 more
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Subjective Cognitive Concerns and Cognitive Trajectories in Parkinson's Disease: Biomarker Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of subjective cognitive concerns (SCC) with biomarkers of Alzheimer's disease (AD), neurodegeneration, and Parkinson's disease (PD) and domain‐specific cognitive trajectories among cognitively unimpaired persons with de novo PD. Method Cognitively unimpaired participants with SCC (n = 294) and without SCC (
Francesca V. Lopez, Fareshte Erani, Katherine J. Bangen, David G. Coughlin, Douglas Galasko, Kelsey R. Thomas   +5 more
wiley   +1 more source

Long-read sequencing reveals pre-meiotic gene conversion in sperm. [PDF]

Nature
Schweiger R, Lee S, Zhou C, Yang TP, Li S, Sanghvi R, Neville M, Smith K, Roberts K, Nessa A, Wadge S, Small KS, Campbell PJ, Almstrup K, Sudmant PH, Rahbari R, Durbin R.   +16 more
europepmc   +1 more source

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia. [PDF]

Clin Epigenetics
Sorrentino U, Mirza-Schreiber N, Pavlov M, Peymani F, Havrankova P, Indelicato E, Serranová T, Kunc L, Lösecke S, Tilch E, Eck S, Prokisch H, Winkelmann J, Boesch S, Jech R, Graf E, Oexle K, Zech M.   +17 more
europepmc   +1 more source

Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit, Aime Luna, Bradley Judge, Nicole Shelley, Karl Friedrichsen, Jayashree Rajamanickam, Zhude Tu, Yong Wang, Tammie L. S. Benzinger, Qing Wang, Matthew R. Brier   +10 more
wiley   +1 more source

Long-read sequencing for neurological disorders: opportunities, challenges, and future directions. [PDF]

Neurol Sci
Geiger H, Furuta Y, Perera BLA, Stewart R, Tinker RJ, Phillips JA.   +5 more
europepmc   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source