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1 SORD) as the most frequent recessive form of hereditary neuropathy.
2 n Zero gene (MPZ, P0) cause various forms of hereditary neuropathy.
3 drial myopathy, spinal muscular atrophy, and hereditary neuropathies.
4 thin the P0 gene (MPZ) underlie a variety of hereditary neuropathies.
5 ts genetic abnormalities account for ~80% of hereditary neuropathies.
6 derations in the management of patients with hereditary neuropathies.
7 the subtypes of this heterogeneous group of hereditary neuropathies and in differentiating them from
8 mutation in a molecular chaperonin causing a hereditary neuropathy and raises the possibility that mi
12 one of the most frequent forms of recessive hereditary neuropathy, estimated to affect ~10 000 patie
14 ents for fission-related pathologies such as hereditary neuropathies, inborn errors in metabolism, ca
15 s that underlie abnormal myelin formation in hereditary neuropathies is critical for advancing therap
16 g1/RTP/Rit42 gene are commonly identified in hereditary neuropathies of the motor and sensory systems
17 years before screening, family history of a hereditary neuropathy, or an alternative neuropathy caus
18 advances in our understanding of rare human hereditary neuropathies, peripheral nervous system tumor
20 type I (HSAN I) is the most frequent type of hereditary neuropathy that primarily affects sensory neu
21 e majority of genes causally associated with hereditary neuropathies were highly enriched in DRG.
22 final two cases were shown to be examples of hereditary neuropathy with focally folded myelin sheaths
23 his gene causes a separate neuropathy termed hereditary neuropathy with liability to pressure palsies
24 n types of inherited neuropathies, including hereditary neuropathy with liability to pressure palsies
25 MP22 leads to another peripheral neuropathy, hereditary neuropathy with liability to pressure palsies
26 most common CMT subtypes were CMT1A, CMT1X, hereditary neuropathy with liability to pressure palsies
27 e compression in an authentic mouse model of hereditary neuropathy with liability to pressure palsies
28 e type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies
30 h healthy controls (n = 7) and patients with Hereditary Neuropathy with liability to Pressure Palsies
31 ological features of a neuropathy similar to hereditary neuropathy with liability to pressure palsies
32 duplication) and decreased in patients with hereditary neuropathy with liability to pressure palsies
33 Charcot-Marie-Tooth disease type 1A (CMT1A), hereditary neuropathy with liability to pressure palsies
35 associated with the peripheral neuropathies, hereditary neuropathy with liability to pressure palsies
37 duplication in chromosome 17p11.2-p12, while hereditary neuropathy with liability to pressure palsies
38 type 1A (CMT1A) and deleted in patients with hereditary neuropathy with liability to pressure palsies
39 ous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies
40 eature of brachial neuropathy is shared with hereditary neuropathy with liability to pressure palsies
41 A) and a reciprocal deletion associated with hereditary neuropathy with liability to pressure palsies
42 m duplication in chromosome 17p11.2-p12, and hereditary neuropathy with liability to pressure palsies
43 ooth disease type 1A (CMT1A) duplication and hereditary neuropathy with liability to pressure palsies
44 1%), 38 sensory ataxic neuropathy (2.5%), 72 hereditary neuropathy with liability to pressure palsies
45 me features present in neuropathies, such as hereditary neuropathy with liability to pressure palsies
46 peripheral myelin protein 22 (PMP22) causes hereditary neuropathy with liability to pressure palsies
47 rcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (
48 CMT2A/MFN2 mutation, CMT1B/MPZ mutation, and hereditary neuropathy with liability to pressure palsy/P
49 r deletions, causing the reciprocal disorder hereditary neuropathy with pressure palsies (HNPP), were
50 previously been recognized in patients with hereditary neuropathy, with uncharacterized genetic defe