Results 171 to 180 of about 125,979 (217)

Dissociable effects of medication on visual-vestibular brain excitability by visual motion stimuli in episodic ataxia type 2. [PDF]

Brain Commun
von der Gablentz J, Sprenger A, Overbeeke N, Timmann D, Brüggemann N, Helmchen C.   +5 more
europepmc   +1 more source

Case Report: A Novel CACNA1A Mutation Caused Flunarizine-Responsive Type 2 Episodic Ataxia and Hemiplegic Migraine With Abnormal MRI of Cerebral White Matter. [PDF]

Front Neurol, 2022
Yuan X, Zheng Y, Gao F, Sun W, Wang Z, Zhao G.   +5 more
europepmc   +1 more source

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin–Siris Syndrome and Sialuria From India

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Coffin–Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the SMARCB1 gene are associated with CSS, benign tumors (schwannomas), and rhabdoid tumor predisposition ...
Aparna Bhanushali, Archana Kawalakatt, Smita Kulkarni, Preethi Nair, Ankita Mali, Ashlesha Pradhan, Anirvan Chatterjee   +6 more
wiley   +1 more source

UBR4 should no longer be considered a candidate gene for episodic ataxia type 8. [PDF]

Eur J Hum Genet
Harvey S, King MD, Lynch SA, Gorman KM.
europepmc   +1 more source

Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review

HemaSphere, Volume 10, Issue 9, September 2026.
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Alexandros Makis, Ioanna Saougou, Eleftheria Hatzimichael   +2 more
wiley   +1 more source

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, Volume 3, Issue 3, September 2026.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

Intellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia. [PDF]

J Clin Neurol
Kim S, Kim JS, Lee SH, Kim JM, Na S, Choi JH, Kim HJ.   +6 more
europepmc   +1 more source

Management of Refractory and Difficult‐To‐Treat Inflammatory Bowel Disease: An Expert Opinion Review

JCC Plus, Volume 1, Issue 5, September 2026.
This expert opinion offers a practical framework for refractory and difficult‐to‐treat IBD: confirm inflammation objectively, distinguish pharmacologic from structural and functional disease, and then escalate. Across ten clinical questions, the evidence is often limited to case series, and the resulting statements are identified as expert opinion ...
Filiz Akyuz, Oguz Kagan Bakkaloglu, Nalan Gulsen Unal, Ismail Hakki Kalkan, Mehmet Arhan, Ibrahim Hatemi, Taylan Kav, Murat Toruner, Hale Akpinar, Ahmet Tezel, Aykut Ferhat Celik   +10 more
wiley   +1 more source

Postural control in episodic ataxia type 2: no evidence for increased vestibular excitability. [PDF]

Eur J Neurol
von der Gablentz J, Overbeeke N, Timmann D, Ganos C, Synofzik M, Brüggemann N, Helmchen C, Sprenger A.   +7 more
europepmc   +1 more source

Case report and ten-year follow-up of episodic ataxia type 2 due to a novel variant in CACNA1A. [PDF]

eNeurologicalSci, 2021
Verriello L, Carrera P, Pauletto G, Bernardini A, Valente M, Gigli GL.   +5 more
europepmc   +1 more source