retinal degeneration/епилептични припадъци

Линкът е запазен в клипборда

СтатииКлинични изследванияПатенти

Изберете тип сортиране

Страница 1 от 46 резултата

Ultrastructural and biochemical analysis of sperm flagella from an infertile man with a rod-dominant retinal degeneration.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

This study examined the ultrastructural morphology and posttranslationally modified alpha-tubulin isoforms in the sperm flagella of a patient presenting with infertility and retinal degeneration. Clinical evaluation showed impaired motility and gross morphological abnormalities of the sperm and a

Midkine, heparin-binding growth factor, blocks kainic acid-induced seizure and neuronal cell death in mouse hippocampus.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

BACKGROUND Midkine (MK), a member of the heparin-binding growth factor family, which includes MK and pleiotrophin, is known to possess neurotrophic and neuroprotective properties in the central nervous system. Previous studies have shown that MK is an effective neuroprotective agent in reducing

Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

Prior investigations have shown that patients with neuronal ceroid lipofuscinosis (NCL) develop neurodegeneration characterized by vision loss, motor dysfunction, seizures, and often early death. Neuropathological analysis of patients with NCL shows accumulation of intracellular autofluorescent

Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

Human WWOX gene resides in the chromosomal common fragile site FRA16D and encodes a tumor suppressor WW domain-containing oxidoreductase. Loss-of-function mutations in both alleles of WWOX gene lead to autosomal recessive abnormalities in pediatric patients from consanguineous families, including

Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

Juvenile neuronal ceroid lipofuscinosis (JNCL) is a childhood neurodegenerative disease with early-onset, severe central vision loss. Affected children develop seizures and CNS degeneration accompanied by severe motor and cognitive deficits. There is no cure for JNCL, and patients usually die during

Progressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures. Neuropathological analyses of autopsy material from NCL patients and animal models revealed brain atrophy closely

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy. We studied eight individuals from two unrelated families

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

BACKGROUND WWOX, encoding WW domain-containing oxidoreductase, spans FRA16D, the second most common chromosomal fragile site frequently altered in cancers. It is therefore considered a tumor suppressor gene, but its direct implication in cancerogenesis remains controversial. RESULTS By whole-exome

Clinical manifestation of mitochondrial diseases in children.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three;

Neuropathological findings of an autopsy case of adult beta-galactosidase and neuraminidase deficiency.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

An autopsy case of a Japanese male with familial beta-galactosidase and neuraminidase deficiency is reported. The clinical picture was characterized by adult onset, a gargoyle-like face, cerebellar ataxia, myoclonus, convulsions, retinal degeneration and cortical blindness. Histopathologically, most

New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

We report on a new autosomal-recessive syndrome in 4 Japanese children in 2 families. The key manifestations are Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, metabolic acidosis, and autosomal-recessive inheritance. There were no

Apoptotic photoreceptor loss and altered expression of lysosomal proteins in the nclf mouse model of neuronal ceroid lipofuscinosis.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

OBJECTIVE Mutations in the CLN6 gene cause variant late-infantile neuronal ceroid lipofuscinosis, a lysosomal storage disorder clinically characterized by progressive loss of vision, dementia, seizures, and early death. Here, we analyzed the time course of photoreceptor loss and the role of

Electroencephalographic findings in patients with mucolipidosis type IV.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

OBJECTIVE To describe the electroencephalographic findings in mucolipidosis type IV (ML IV), a lysosomal storage disease of unknown etiology characterized clinically by corneal clouding, retinal degeneration and severe psychomotor retardation. Most patients are of Ashkenazi-Jewish ancestry. The EEG

Spontaneous human herpes virus type 1 infection in a chinchilla (Chinchilla lanigera f. dom.).

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

A 1-year-old male chinchilla with a 2-week history of conjunctivitis suffered subsequently from neurological signs comprising seizures, disorientation, recumbency and apathy. After 3 weeks of progressive central nervous disease the animal was killed in view of the poor prognosis. A non-suppurative

Potassium channels: how genetic studies of epileptic syndromes open paths to new therapeutic targets and drugs.

Само регистрирани потребители могат да превеждат статии

Вход / Регистрация

How can epilepsy gene hunting lead to better care for patients with epilepsy? Lessons may be learned from the progress made by identifying the mutated genes that cause Benign Familial Neonatal Convulsions (BFNC). In 1998, a decade of clinical and laboratory-based genetics work resulted in the

Предишна
1
2
3
4
Следваща

Присъединете се към нашата
страница във facebook

Herbal & Natural Medicine

Най-пълната база данни за лечебни билки, подкрепена от науката

Работи на 55 езика
Билкови лекове, подкрепени от науката
Разпознаване на билки по изображение
Интерактивна GPS карта - маркирайте билките на място (очаквайте скоро)
Прочетете научни публикации, свързани с вашето търсене
Търсете лечебни билки по техните ефекти
Организирайте вашите интереси и бъдете в крак с научните статии, клиничните изследвания и патентите

Въведете симптом или болест и прочетете за билките, които биха могли да помогнат, напишете билка и вижте болестите и симптомите, срещу които се използва.
* Цялата информация се базира на публикувани научни изследвания