Catalan
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
hereditary sensory and motor neuropathy/prolina
L'enllaç es desa al porta-retalls
5 resultats
Marked phenotypic variation in a family with a new myelin protein zero mutation.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily, which has a role in myelin compaction. MPZ gene mutations cause mostly demyelinating neuropathies of the Charcot-Marie-Tooth 1B type (CMT1B), but axonal CMT have been described as well. There is a broad spectrum of
Evidence of TRK-Fused Gene (TFG1) function in the ubiquitin-proteasome system.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
A heterozygous mutation in the TRK-Fused Gene (TFG1) has recently been identified in hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P). TFG1 protein is reportedly localized at endoplasmic reticulum (ER) exit sites and modulates ER export, but the mechanism of its
Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Loss-of-function of the potassium-chloride cotransporter 3 (KCC3) causes hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a severe neurodegenerative disease associated with defective midline crossing of commissural axons in the brain. Conversely, KCC3
Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Mutations in peripheral myelin protein 22 (PMP22) result in the most common form of Charcot-Marie-Tooth (CMT) disease, CMT1A. This hereditary peripheral neuropathy is characterized by dysmyelination of peripheral nerves, reduced nerve conduction velocity, and muscle weakness. APMP22 point mutation
Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice.
Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
Charcot--Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy characterized by progressive demyelination and distal muscle weakness. Abnormal expression of peripheral myelin protein 22 (PMP22) has been linked to CMT1A and is modeled by Trembler J (TrJ) mice, which carry the same
La base de dades d’herbes medicinals més completa avalada per la ciència
- Funciona en 55 idiomes
- Cures a base d'herbes recolzades per la ciència
- Reconeixement d’herbes per imatge
- Mapa GPS interactiu: etiqueta les herbes a la ubicació (properament)
- Llegiu publicacions científiques relacionades amb la vostra cerca
- Cerqueu herbes medicinals pels seus efectes
- Organitzeu els vostres interessos i estigueu al dia de les novetats, els assajos clínics i les patents
Escriviu un símptoma o una malaltia i llegiu sobre herbes que us poden ajudar, escriviu una herba i vegeu malalties i símptomes contra els quals s’utilitza.
* Tota la informació es basa en investigacions científiques publicades
