ライフサイエンスコーパス: infantile-onset

1 -onset disease is typically more severe than infantile-onset and adult-onset disease, long-term morbi

2 iaphragm muscle is severely affected in both infantile-onset and late-onset individuals, with death o

3 n early-onset amyotrophic lateral sclerosis, infantile-onset ascending hereditary spastic paraplegia

4 LS2), juvenile primary lateral sclerosis and infantile-onset ascending spastic paralysis.

5 ion (IVS18+2t-->a) in a patient with classic infantile-onset autosomal recessive glycogen storage dis

6 The patient had an infantile-onset but slowly progressive encephalomyopathy

7 Infantile-onset cardiac disease, because of its rapid pr

8 ation in striated muscle and an accompanying infantile-onset cardiomyopathy.

9 rgeted 266 CAG repeats (a number that causes infantile-onset disease) into the mouse Sca7 locus to ge

10 nt MPZ mutations, including R98C, present as infantile onset dysmyelinating neuropathies.

11 ion in FOXRED1 in a child who presented with infantile-onset encephalomyopathy.

12 Patients presented with early infantile onset encephalopathy characterized by progress

13 yelination with spastic quadriplegia, and an infantile onset encephalopathy, suggesting multiple cell

14 nd in a single patient with a severe form of infantile onset encephalopathy.

15 f-function allele in UBA5 underlies a severe infantile-onset encephalopathy.

16 ied a small family with autosomal recessive, infantile onset epilepsy and intellectual disability.

17 e we describe two unrelated individuals with infantile-onset epilepsy and abnormalities of brain morp

18 se Dravet syndrome (DS), a pharmacoresistant infantile-onset epilepsy syndrome with comorbidities of

19 his gene has been previously associated with infantile-onset epilepsy syndromes in two other cohorts.

20 Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with

21 ere myoclonic epilepsy in infancy (SMEI), an infantile-onset epileptic encephalopathy characterized b

22 ring, large-angle (approximately 25 degrees) infantile-onset esotropia (large-eso).

23 The predominant form of strabismus was infantile-onset: esotropia in 54%, exotropia in 26%, and

24 Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration c

25 or mouse models may correspond to the severe infantile onset forms of NPC disease, Npc1(nmf164) mice

26 Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or

27 The infantile onset group had higher Charcot-Marie-Tooth dis

28 presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and p

29 isease is hypothesised to be between that of infantile-onset (ie, <6 years old) and adult-onset disea

30 Infantile-onset inflammatory bowel disease (IO IBD) is a

31 Dravet syndrome (DS) is an infantile-onset intractable epilepsy caused by heterozyg

32 Affected children had large heads, infantile-onset intractable multifocal seizures and seve

33 ndrially encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have o

34 occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent

35 We describe a disease encompassing infantile-onset movement disorder (including severe park

36 biallelic mutation in the PTRH2 gene causes infantile-onset multisystem disease with progressive mus

37 In parallel, infantile-onset mutant GALCs showed reduced trafficking

38 ng in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnorm

39 ates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14.

40 t siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a

41 Clinically, infantile onset neurological regression with partial rec

42 The adult male subject had infantile onset nystagmus while the three other patients

43 Recent studies on the various forms of infantile-onset nystagmus have advanced our understandin

44 Infantile-onset nystagmus is commonly associated with ge

45 Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immun

46 d from familial hemiplegic migraine (FHM) by infantile onset of the characteristic symptoms and high

47 Many GLD patients develop infantile-onset of progressive neurologic deterioration

48 ients in the cohort presented with classical infantile-onset parkinsonism dystonia, with one survivin

49 Half of the infantile onset patients then required ambulation aids o

50 SLC12A5 mutations in patients with a severe infantile-onset pharmacoresistant epilepsy syndrome, epi

51 Infantile-onset Pompe disease is an autosomal recessive

52 reprogrammed fibroblasts from patients with infantile-onset Pompe disease to generate induced plurip

53 larly undefined form of NCL characterized by infantile-onset progressive myoclonic epilepsy (PME), vi

54 ibed, with a classical presentation of early infantile-onset progressive parkinsonism dystonia.

55 cted in dopamine transporter mutants causing infantile-onset rather than juvenile-onset disease.

56 dividuals with severe, sporadic disorders of infantile onset represent an important class of disease

57 Clinical features demonstrated a severe infantile onset retinal dystrophy, similar to Leber cong

58 neurodevelopmental delay and an intractable infantile-onset seizure disorder.

59 We report two siblings with infantile onset seizures, severe developmental delay and

60 terized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, chore

61 uNAc; sialic acid), in nine individuals with infantile-onset severe developmental delay and skeletal

62 ved in the O-mannosylation pathway result in infantile-onset, severe developmental defects involving

63 ates meaningful change in clinical trials in infantile-onset SMA.

64 One strabismic monkey had infantile-onset, small-angle esotropia (small-eso approx

65 Infantile-onset spinal muscular atrophy (SMA) is the mos

66 and 12 mg dose equivalents) in patients with infantile-onset spinal muscular atrophy.

67 led, phase 3 clinical study of nusinersen in infantile-onset spinal muscular atrophy.

68 Infantile onset spinocerebellar ataxia (IOSCA) (MIM 2712

69 underlying autosomally recessively inherited infantile onset spinocerebellar ataxia (IOSCA), we ident

70 F-66 gene lies within the critical region of infantile-onset spinocerebellar ataxia (IOSCA).

71 syndrome with mtDNA depletion syndrome, and infantile-onset spinocerebellar ataxia.

72 lopments associated with unrepaired natural, infantile-onset strabismus in primates.

73 We identified an autosomal recessive infantile-onset symptomatic epilepsy syndrome associated

74 deficiency produces two phenotypes, a severe infantile-onset variant, Wolman disease (WD), and a late

75 (MLC) is a genetic disease characterized by infantile onset white matter edema and delayed onset neu