PrepTutorEJDIC

世襲の,親譲りの / 遺伝的な,遺伝性の

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
2. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
3. 遺伝性楕円赤血球症：臨床的特徴、診断、および治療 hereditary elliptocytosis clinical features diagnosis and treatment
4. 遺伝性感覚自律神経ニューロパチー hereditary sensory and autonomic neuropathies
5. 遺伝性血管浮腫：病因および診断 hereditary angioedema pathogenesis and diagnosis

English Journal

The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.

Ho AK1, Wagstaff JL2, Manna PT1, Wartosch L1, Qamar S1, Garman EF3, Freund SM2, Roberts RC4.
BMC biology.BMC Biol.2016 Dec 7;14(1):109.
BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-α factor (LITAF) cause the autosomal dominant inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). LITAF encodes a 17 kDa protein containing an N-terminal proline-rich region followed by an evolutio
PMID 27927196

A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland.

Lefter S1, Hardiman O2, Ryan AM2.
Neurology.Neurology.2016 Dec 7. pii: 10.1212/WNL.0000000000003504. [Epub ahead of print]
OBJECTIVE: To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a single country.METHODS: This population-based study was performed in the Republic of Ireland (RoI), with a PR estimat
PMID 27927941

Advances in myelinating glial cell development.

Herbert AL1, Monk KR2.
Current opinion in neurobiology.Curr Opin Neurobiol.2016 Dec 5;42:53-60. doi: 10.1016/j.conb.2016.11.003. [Epub ahead of print]
In the vertebrate nervous system, the fast conduction of action potentials is potentiated by the myelin sheath, a multi-lamellar, lipid-rich structure that also provides vital trophic and metabolic support to axons. Myelin is elaborated by the plasma membrane of specialized glial cells, oligodendroc
PMID 27930937

Related Links

Hereditary areflexic dystasia | definition of hereditary areflexic ...

Looking for online definition of hereditary areflexic dystasia in the Medical Dictionary? hereditary areflexic dystasia explanation free. What is hereditary areflexic dystasia? Meaning of hereditary areflexic dystasia medical term ? ...

Roussy-Levy hereditary areflexic dystasia Symptoms ...

Roussy-Levy hereditary areflexic dystasia information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Roussy-Levy hereditary areflexic dystasia ...