Results 81 to 90 of about 77,736 (278)
Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron +8 more
wiley +1 more source
Brunkow exercises and low back pain
Biomolecules & Biomedicine, 2004 Brunkow exercises starting with dynamic contraction of hands and feet with fixed point on the wrist or/and heal. Dynamic contraction from the beginning, transferring through kinetic chain, leads to isometric contraction of the group of muscles, which ...
Emela Mujić Skikić +4 more
doaj +1 more source
ChemBioChem, EarlyView.Regulated intramembrane proteolysis is crucial for functional proteome in all kingdoms of life. The task of cleaving transmembrane proteins within the unique environment of the lipid bilayer presents biochemical challenges that has been solved by integral membrane proteases (IMPRs).
Hannah Fremlén, Björn M. Burmann
wiley +1 more source
Central European Journal of Sport Sciences and Medicine, 2023 Objectives: To evaluate changes in Pulmonary Function Test (PFT) parameters in individuals with paraplegia following Partial Body Weight Supported Treadmill Training (PBWSTT).
Srutarshi Ghosh +5 more
doaj +1 more source
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. [PDF]
, 2007 Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed
AZZEDINE H +24 more
core
Paraplegic standing supported by FES-controlled ankle stiffness [PDF]
, 2001 The objective of this paper was to investigate whether a paraplegic subject-is able to maintain balance during standing by means of voluntary and reflex activity of the upper body while being supported by closed loop controlled ankle stiffness using FES.
Hunt, K.J., Jaime, R.P., Matjacic, Z.
core +1 more source
“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic weakness with or without associated complex neurological symptoms.
Qingqing Wang, Manikum Moodley
wiley +1 more source
Frontiers in Nutrition, 2023 Background and aimPatients with spinal cord injury (SCI) show an increased risk of malnutrition. Studies found that about 50% of patients with a recent SCI are affected by malnutrition when they enter a rehabilitation institution.
Irene Flury +2 more
doaj +1 more source
Epilepsia Open, EarlyView.Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as ...
Zhen Liu +5 more
wiley +1 more source
Journal of Pediatric Surgery Case Reports, 2021 Spastic paraplegia 61 is a rare, complicated form of hereditary spastic paraplegia characterized by diffuse sensory and motor polyneuropathy. Knowledge about the clinical manifestations of disease in patients with this genetic condition is limited.
E.K. Ninmer +3 more
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