ライフサイエンスコーパス: axonal neuropathy

1 of mitochondrial dysfunction in this complex axonal neuropathy.

2 onent of the translation machinery result in axonal neuropathy.

3 for medical histories spanning narcolepsy to axonal neuropathy.

4 , have previously been associated with giant axonal neuropathy.

5 on of GalNacGD1a, in acute motor and sensory axonal neuropathy.

6 essive nature of spinocerebellar ataxia with axonal neuropathy.

7 nerve biopsy showed features of a dystrophic axonal neuropathy.

8 uces a neuropathy that resembles acute motor axonal neuropathy.

9 llum, brain stem and spinal cord and sensory axonal neuropathy.

10 usual mutation event in families affected by axonal neuropathy.

11 europhysiological evidence of a sensorimotor axonal neuropathy.

12 ollow-up, findings indicative of a preceding axonal neuropathy.

13 einaemic neuropathy and normal or non-immune axonal neuropathy.

14 ur young patients presenting with pure motor axonal neuropathy.

15 in TRPV4 have been linked to three distinct axonal neuropathies.

16 otherapy may occur in both demyelinating and axonal neuropathies.

17 xia 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy 1 (SCAN1).

18 langiectasia and spinocerebellar ataxia with axonal neuropathy 1.

19 Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is a neurodegenerative disea

20 ic paraplegia with vibration loss (90%), and axonal neuropathy (90%).

21 hybridoma developed a patchy, predominantly axonal neuropathy affecting a small proportion of nerve

22 nating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN) being the most common forms obs

23 The acute motor axonal neuropathy (AMAN) form of the Guillain-Barre synd

24 logical findings compatible with acute motor axonal neuropathy (AMAN) type, and had rapid evolution o

25 patients with post-Campylobacter acute motor axonal neuropathy (AMAN) variant of GBS, and immunizatio

26 The acute motor axonal neuropathy (AMAN) variant of Guillain-Barre syndr

27 a antibodies are associated with acute motor axonal neuropathy (AMAN), a form of Guillain-Barre syndr

28 ypes of Guillain-Barre syndrome, acute motor axonal neuropathy (AMAN), and acute motor and sensory ax

29 Guillain-Barre syndrome subform acute motor axonal neuropathy (AMAN), Campylobacter jejuni enteritis

30 In acute motor axonal neuropathy (AMAN), the attack appears directed ag

31 nating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN).

32 uropathy (AMAN), and acute motor and sensory axonal neuropathy (AMSAN), are caused by antibodies to g

33 n understanding the link between acute motor axonal neuropathy and antibodies to GM1, GD1a, GM1b and

34 ssociated with a paraneoplastic sensorimotor axonal neuropathy and small-cell lung cancer.

35 of pathological conditions, including giant axonal neuropathy and toxic neuropathy.

36 are in particular implicated in acute motor axonal neuropathy and, with the exception of GalNacGD1a,

37 derlies the pathogenesis of the TRPV4-linked axonal neuropathies, and may have immediate implications

38 gia with thin corpus callosum and peripheral axonal neuropathy, and account for approximately 40% of

39 velopmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.

40 ne are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia.

41 and autonomic neuropathy type 1 (HSAN1), an axonal neuropathy associated with several missense mutat

42 to critical illness polyneuropathy (CIP), an axonal neuropathy associated with systemic inflammatory

43 Neurophysiology mainly showed a sensory axonal neuropathy but in many individuals there was elec

44 d a mutant mouse with a dominantly inherited axonal neuropathy caused by a Gars mutation that is infe

45 spinal muscular atrophy type V (dSMA-V) are axonal neuropathies characterized by a phenotype that is

46 with an autosomal-dominant inherited form of axonal neuropathy, Charcot-Marie-Tooth disease type 2N (

47 progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment.

48 Relative to the double mutants, axonal neuropathy developed much later in the Fgfr1 but

49 rological conditions, including a subtype of axonal neuropathy due to ATP7A mutations and the late-on

50 Giant axonal neuropathy (GAN) is a degenerative disorder of th

51 Giant axonal neuropathy (GAN) is a devastating sensory and mot

52 Giant axonal neuropathy (GAN) is a progressive neurodegenerati

53 Giant axonal neuropathy (GAN) is a rare disease caused by muta

54 Giant axonal neuropathy (GAN) is an early-onset neurological d

55 ative diseases, but none as clearly as giant axonal neuropathy (GAN), a ravaging disease caused by mu

56 ations in gigaxonin were identified in giant axonal neuropathy (GAN), an autosomal recessive disorder

57 Giant axonal neuropathy (GAN), an autosomal recessive disorder

58 Gigaxonin is mutated in human giant axonal neuropathy (GAN), an autosomal recessive neurodeg

59 fatal human neurodegenerative disorder giant axonal neuropathy (GAN).

60 Reversible and rare sensory axonal neuropathy (grade 3, 1 patient) and neutropenia (

61 dentification of these new genetic causes of axonal neuropathy has not only been important for patien

62 th anti-ganglioside antibodies and a primary axonal neuropathy, has raised many questions about the s

63 nditions associated with the pathogenesis of axonal neuropathies in vivo.

64 emyelinating neuropathy in four patients and axonal neuropathy in eight.

65 a confirmed that a mutation in MPZ can cause axonal neuropathy, in the absence of segmental demyelina

66 ot-Marie-Tooth disease type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl-tRNA

67 The spinocerebellar ataxia with axonal neuropathy neurodegenerative disease is caused by

68 order manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit.

69 t instead causes spinocerebellar ataxia with axonal neuropathy (SCAN1) by affecting large, terminally

70 ived either from spinocerebellar ataxia with axonal neuropathy (SCAN1) patients, who have an inactiva

71 (TDP1) can cause spinocerebellar ataxia with axonal neuropathy (SCAN1), a neurodegenerative syndrome

72 erited disorder, spinocerebellar ataxia with axonal neuropathy (SCAN1), is caused by a H493R mutation

73 nerative disease spinocerebellar ataxia with axonal neuropathy (SCAN1).

74 In contrast to the axonal neuropathies, tacrolimus and rarely suramin can r

75 res of a case of paralytic rabies with acute axonal neuropathy that closely resembled axonal Guillain

76 mal dominant family with Charcot-Marie-Tooth axonal neuropathy type 2 (CMT2) with 38 members of which

77 weakness, wasting and sensory loss, with an axonal neuropathy typical of CMT2, but no significant re

78 An axonal neuropathy was present in six (14%) of group A an

79 function, resulting in a severe, early-onset axonal neuropathy with unique features.

80 MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only oc

81 The homozygous patient had a severe axonal neuropathy without features of demyelination.

82 atients with diabetic neuropathy and 10 with axonal neuropathy without vasculopathy were immunostaine