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Amyotrophie spinale
Amyotrophie spinale avec détresse respiratoire type 1
Amyotrophie spinale avec détresse respiratoire type 2
Amyotrophie spinale diaphragmatique type 2
Distale
Fazio-Londe
Forme scapulo-péronière
Kugelberg-Welander
Paralysie bulbaire progressive de l'enfant
Werdnig-Hoffman

Translation of "amyotrophie spinale infantile type " (French → English) :

TERMINOLOGY
see also In-Context Translations below
Amyotrophie spinale infantile, type I [Werdnig-Hoffman]

Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
WORLD HEALTH ORGANIZATION ICD-10: G12.0
WORLD HEALTH ORGANIZATION ICD-10: G12.0


Amyotrophie spinale (de):adulte | distale | enfant, type II | forme juvénile, type III [Kugelberg-Welander] | forme scapulo-péronière | Paralysie bulbaire progressive de l'enfant [Fazio-Londe]

Progressive bulbar palsy of childhood [Fazio-Londe] Spinal muscular atrophy:adult form | childhood form, type II | distal | juvenile form, type III [Kugelberg-Welander] | scapuloperoneal form
WORLD HEALTH ORGANIZATION ICD-10: G12.1
WORLD HEALTH ORGANIZATION ICD-10: G12.1


amyotrophie spinale avec détresse respiratoire type 1

Autosomal recessive distal spinal muscular atrophy 1
SNOMEDCT-BE (disorder) / 711483003
SNOMEDCT-BE (disorder) / 711483003


amyotrophie spinale avec détresse respiratoire type 2

Diaphragmatic spinal muscular atrophy type 2
SNOMEDCT-BE (disorder) / 770727008
SNOMEDCT-BE (disorder) / 770727008


amyotrophie spinale distale autosomique récessive type 2

Distal hereditary motor neuropathy Jerash type
SNOMEDCT-BE (disorder) / 763533003
SNOMEDCT-BE (disorder) / 763533003


amyotrophie spinale diaphragmatique type 2

A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The ph
SNOMEDCT-BE (disorder) / 770727008
SNOMEDCT-BE (disorder) / 770727008
IN-CONTEXT TRANSLATIONS
Il concentre actuellement ses recherches sur l'étude du rôle fondamental d'une protéine de liaison cytosquelettique dans le trafic intracellulaire; l'étude des voies de transduction de signal importantes pour la myélinisation et la remyélinisation à médiation oligodendrocytique du SNC; ainsi que l'étude de la pathogénèse de l'amyotrophie spinale et la recherche de nouveaux traitements pour cette maladie infantile aux effets dévastateurs.

Dr. Kothary's current research focuses on studying the fundamental role of a cytoskeletal linker protein important for intracellular trafficking, investigating signal transduction pathways important for oligodendrocyte mediated myelination and remyelination of the CNS, and understanding Spinal Muscular Atrophy pathogenesis and identifying novel therapeutics for this devastating children's disease.




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amyotrophie spinale infantile type

Date index:2022-08-16 -

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