Heterozygous variants in AP4S1 are not associated with a neurological phenotype
Annals of Clinical and Translational Neurology, EarlyView.Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz +9 more
wiley +1 more source
Further Studies of Inosinic Acid Formation in Carp Muscle
, 1958 Tsuneyuki SAITO, K.I. Arai
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Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi +8 more
wiley +1 more source
OF THE ACTION OF ETHER ON CONTRACTURE AND OF POSITIVE KATHODIC POLARIZATION OF VERTEBRATE VOLUNTARY MUSCLE [PDF]
, 1896 F. S. Locke
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Handling rescue therapy in myasthenia gravis clinical trials: why it matters and why you should care
Annals of Clinical and Translational Neurology, EarlyView.Abstract Myasthenia gravis (MG) clinical trials typically allow rescue therapy during follow‐up in the event of marked worsening of MG symptoms. Failure to appropriately address rescue therapy in defining treatment effects and planning statistical analyses may yield biased estimates, increase false positive rates, or decrease statistical power – all of
Justin M. Leach +3 more
wiley +1 more source
THE NERVES OF THE CAPILLARIES, WITH REMARKS ON NERVE-ENDINGS IN MUSCLE [PDF]
, 1901 Chr. Sihler
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Annals of Clinical and Translational Neurology, EarlyView.Abstract Objectives Intravenous immunoglobulin (IVIg) is an effective treatment for Guillain–Barré syndrome (GBS), but recovery varies between patients. This study aims to evaluate the pharmacokinetics (PK) and pharmacodynamics (PD) of a single and a second IVIg dose (SID) in patients with GBS.
Sander J. van Tilburg +7 more
wiley +1 more source
Studies in the physiology of vitamins. III. A comparison of the effects of feeding extracts of muscle and yeast respectively [PDF]
, 1922 George R. Cowgill
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Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective We measured clinical and quantitative MRI outcome measures in CMT1A to assess long‐term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker. Methods Twenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4‐year follow‐up ...
Matthew R. B. Evans +8 more
wiley +1 more source
PHASE AND ELECTRON MICROSCOPE STUDIES OF THE INTERRELATIONSHIP OF CYTOCHONDRIA AND MYOFIBRILS IN PIGEON BREAST MUSCLE [PDF]
, 1955 Stanley Weinreb, John W. Harman
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