SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
PLA2R-Positive Membranous Nephropathy and AA Amyloidosis in an Ethiopian Patient With Chronic Hepatitis B: A Case Report. [PDF]
Abreham B +4 more
europepmc +1 more source
Market discipline by depositors: evidence from reduced form equations [PDF]
This paper examines the effects of the estimated probability of bank failure on the growth rates of large time deposits and interest rates on those deposits.
Sangkyun Park
core
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Sub-Acute Toxicity Evaluation and Antiurolithiatic Activity of <i>Tribulus terrestris</i> Ethanol Extract in Rats. [PDF]
Al-Mohamadi A +3 more
europepmc +1 more source
Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper +25 more
wiley +1 more source
Gelatinous drop-like amyloid in FOXC2 distichiasis syndrome: a case report. [PDF]
Sexton G +4 more
europepmc +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Local bicarbonate ringer's therapy after resection of idiopathic solitary tumoural calcinosis. [PDF]
Sakamoto A, Noguchi T, Matsuda S.
europepmc +1 more source

