ライフサイエンスコーパス: axonal neuropathy

1 for medical histories spanning narcolepsy to axonal neuropathy.

2 ng the GAN transgene) in children with giant axonal neuropathy.

3 usual mutation event in families affected by axonal neuropathy.

4 ur young patients presenting with pure motor axonal neuropathy.

5 of mitochondrial dysfunction in this complex axonal neuropathy.

6 onent of the translation machinery result in axonal neuropathy.

7 , have previously been associated with giant axonal neuropathy.

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

9 essive nature of spinocerebellar ataxia with axonal neuropathy.

10 nerve biopsy showed features of a dystrophic axonal neuropathy.

11 uces a neuropathy that resembles acute motor axonal neuropathy.

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

13 europhysiological evidence of a sensorimotor axonal neuropathy.

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

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

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

17 otherapy may occur in both demyelinating and axonal neuropathies.

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

19 langiectasia and spinocerebellar ataxia with axonal neuropathy 1.

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

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

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

23 oth type 2B disease is an autosomal dominant axonal neuropathy affecting peripheral sensory neurons c

24 he agnostic screening of children with acute axonal neuropathy after an infection, we identified seve

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

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

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

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

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

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

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

32 lyradiculoneuropathy (AIDP) from acute motor axonal neuropathy (AMAN), as classified by electrophysio

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

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

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

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

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

38 glandular syndrome type 1, and TG6 in gluten axonal neuropathy and gluten ataxia.

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

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

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

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

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

44 ia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydratase deficiency.

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

46 ral recovery following PNI and SCC injuries, axonal neuropathy, and muscle wasting disorders.

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

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

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

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

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

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

53 in 2 unrelated families with the hereditary axonal neuropathy Charcot-Marie-Tooth disease type 2 (CM

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

55 ciated with SMARD1, milder alleles cause the axonal neuropathy, Charcot-Marie-Tooth disease type 2S (

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

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

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

59 from 12 families who had severe, acute-onset axonal neuropathy following infection (13 female and 11

60 d children affected by a severe, acute-onset axonal neuropathy following infection through an interna

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

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

63 Giant axonal neuropathy (GAN) is a progressive neurodegenerati

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

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

66 Giant axonal neuropathy (GAN) is an ultra-rare autosomal reces

67 ch on pathogenic mechanisms underlying giant axonal neuropathy (GAN), a disease caused by a deficienc

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

69 udied the molecular mechanisms causing giant axonal neuropathy (GAN), a severe neurodegenerative dise

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

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

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

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

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

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

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

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

78 months; (2) electrophysiological evidence of axonal neuropathy in at least two nerves without any evi

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

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

81 Giant axonal neuropathy is a pathological condition caused by

82 Giant axonal neuropathy is a rare, autosomal recessive, pediat

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

84 athological mechanisms underlying this novel axonal neuropathy might overlap with those of amyotrophi

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

86 d decarboxylase [AADC] deficiency, and giant axonal neuropathy), ocular disorders (Leber congenital a

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

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

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

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

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

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

93 autosomal recessive, acute-onset paediatric axonal neuropathy, seemingly triggered by infection, tha

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

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

96 ypes, ranging from rapidly progressive fatal axonal neuropathy to mild motor neuropathy with impaired

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

98 tibodies, are mostly detected in acute motor axonal neuropathy type of GBS and in FS, and less freque

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

100 gene transfer with scAAV9/JeT-GAN for giant axonal neuropathy was associated with adverse events and

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

102 'Inflammatory axonal neuropathy' was proven in 14 (45%) of 31 sural ne

103 Electromyography (EMG) revealed axonal neuropathy, which was predominantly sensory.

104 Electromyography revealed axonal neuropathy, which was predominantly sensory.

105 pidly progressive and disabling sensorimotor axonal neuropathy with early small-fibre involvement.

106 mutations, to late-onset autosomal-dominant axonal neuropathy with predominant sensory deficits.

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

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

109 udies were suggestive of a motor predominant axonal neuropathy, with reduced conduction velocities in

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

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