Results 111 to 120 of about 77,693 (246)

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: bronze, 2016
Pierre Seners   +8 more
openalex   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: gold, 2023
Tongtong Yang   +8 more
openalex   +1 more source

The Case of a 25‐Year‐Old Woman With Isolated Head Tremor

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

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