ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando +13 more
wiley +1 more source
Induced Hypertensive Therapy in an Acute Ischemic Stroke Patient with Early Neurological Deterioration [PDF]
Hye‐Jin Kim, Dong‐Wha Kang
openalex +1 more source
Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz +20 more
wiley +1 more source
Is Unexplained Early Neurological Deterioration After Intravenous Thrombolysis Associated With Thrombus Extension? [PDF]
Pierre Seners +8 more
openalex +1 more source
Salvage Therapy after Early Neurological Deterioration in Patients with Branch Atheromatous Disease Receiving Dual Antiplatelet Therapy [PDF]
Xuemin Zhong +3 more
openalex +1 more source
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Interpretable Machine Learning Model Predicting Early Neurological Deterioration in Ischemic Stroke Patients Treated with Mechanical Thrombectomy: A Retrospective Study [PDF]
Tongtong Yang +8 more
openalex +1 more source
The Case of a 25‐Year‐Old Woman With Isolated Head Tremor
ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao +5 more
wiley +1 more source
Clinical Characteristics and Outcomes of Early‐Onset Versus Late‐Onset LGI1‐Antibody Encephalitis
ABSTRACT Background Leucine‐rich glioma‐inactivated 1 antibody (LGI1‐Ab) encephalitis predominantly affected older individuals, but has also been reported in younger patients. However, the demographic, clinical, and prognostic characteristics of early‐onset LGI1‐Ab encephalitis have yet to be systematically elucidated. This study aims to systematically
Yu Kong +7 more
wiley +1 more source

