ライフサイエンスコーパス: early-onset

1 lations evolved to LTP-Allergy and showed an early onset.

2 h severe COVID-19 disease or death and their early onset.

3 MSH6 (1) and MUTYH (1), followed by multiple early-onset (2/9) individuals, affecting the CHEK2 and A

4 BRCA1 (breast cancer 1, early onset), a well-known breast cancer susceptibility

5 ), a neurodevelopmental disorder and form of early onset AD, requires the extra gene copy of amyloid

6 nd the Amyloid Precursor Protein (APP) cause early-onset AD GSECs successively cut APP to generate am

7 ibrin deposits in HCAA patients, compared to early-onset AD patients and nondemented individuals.

8 -onset AD showing heritability of 58-79% and early-onset AD showing over 90%.

9 riod and in early infancy reduce the risk of early-onset AD, a phenotype associated with multiple oth

10 /AD pathomechanisms in infants/toddlers with early-onset AD, but are not feasible in pediatric popula

11 PSEN1 or PSEN2) carrying mutations linked to early-onset AD.

12 the Abeta42/Abeta40 ratio is correlated with early-onset AD.

13 Increased awareness of early onset, aggressive disease has important implicatio

14 promoting age-related decline, the causes of early-onset aging defects are unknown.

15 anisms by which barrier dysfunction leads to early onset airway diseases, remain unclear.

16 otypes that have been identified include (1) early-onset allergic asthma, (2) early-onset allergic mo

17 include (1) early-onset allergic asthma, (2) early-onset allergic moderate-to-severe remodeled asthma

18 aging and clinical variables consistent with early onset Alzheimer's disease phenotype were associate

19 developmental disorder invariably leading to early-onset Alzheimer's disease (AD).

20 to search for rare variation contributing to early-onset Alzheimer's disease (EOAD) and frontotempora

21 ntracellular accumulation of beta-amyloid in early-onset Alzheimer's disease.

22 binding protein Fused in Sarcoma (FUS) cause early-onset amyotrophic lateral sclerosis (ALS).

23 autophagy-related 5 gene (CR-Atg5KO) led to early onset and accelerated development of cardiomyopath

24 y could provide comprehensive protection, as early onset and late-onset disease and maternal complica

25 The early onset and penetrating impact of this inflammatory

26 rized by a high percentage of never-smokers, early onset and predominant EGFR mutations.

27 2 diabetes (aged 18-39 years) are at risk of early onset and rapid progression of diabetic retinopath

28 In 5 patients with early onset and severe disease, survival and motor funct

29 n challenged by their inability to model the early onset and severity of the disease.

30 au variant in TAU58/2 mice, characterized by early-onset and progressive behavioral deficits and FTD-

31 bsence of doxycycline resulted in pronounced early-onset and progressive neurodegeneration, and motor

32 approaches to therapeutics for children with early onset anxiety disorders.

33 Placental screening effectively identified early-onset (area under the curve (AUC) 0.93, 95% confid

34 id (ALA) and porphobilinogen (PBG), profound early-onset ataxia, delayed motor development and marked

35 ses a dominantly inherited predisposition to early onset autoimmune diseases related to cytokine hype

36 n patients from five unrelated families with early onset autoimmune manifestations.

37 RBA risk alleles are associated with severe, early-onset autoimmunity; we show that heterozygous carr

38 beta processing are associated not only with early-onset autosomal dominant Alzheimer's disease but a

39 We report an early-onset autosomal-recessive neurological disease wit

40 recessive KIF3B models as exemplified by an early-onset, autosomal-recessive, progressive retinal de

41 ect-1 (APH-1), nicastrin (NCT) and PEN-2 and early-onset; autosomal dominant forms of Alzheimer's dis

42 It included early onset axial and proximal weakness, scoliosis, rigi

43 olyoma middle-T oncogene strain, which shows early onset breast cancer development and metastasis, Wi

44 distributed; (2) ascertainment criteria like early-onset breast cancer (age 20-35 yr) provides a cond

45 neration sequencing of germline DNA in 2,160 early-onset breast cancer and 1,199 patients with ovaria

46 identifying new candidate genes, we examined early-onset breast cancer patients negative for BRCA1 an

47 omised, may predispose to the development of early-onset breast cancer.

48 among women with positive family history of early-onset breast cancer.

49 and strong associations with methylation for early-onset but not later-onset myopia.

50 nd function of gut microbial communities and early-onset calcium oxalate kidney stone disease is unkn

51 abolome that may be upstream determinants of early-onset calcium oxalate kidney stone disease.

52 , 34 colorectal cancer (CRC) and 19 multiple early-onset cancers were included.

53 In early-onset cancers, the larger gHFI burden in cancer ge

54 mutation in the development of a severe and early-onset cardiac phenotype.

55 se seven, four were previously identified in early onset cardiomyopathy screens.

56 panese PCa risk in our study, and found that early onset cases and cases with family history of PCa w

57 40 families with a history of CRC (including early-onset cases) of an unknown germline basis (discove

58 itance should be considered likely in severe early-onset cases.

59 labelled as glaucoma suspects and developing early-onset cataracts.

60 ns fiber cells, perturbation of which causes early-onset cataracts.

61 In humans, DMD has early onset, causes developmental delays, muscle necrosi

62 effective strategy to identify newborns with early-onset cCMVI-related HL.

63 -ataxia presented as variable multisystemic, early-onset cerebellar ataxia, with complicating feature

64 s with homozygous dominant AIP (HD-AIP) have early-onset chronic neurological impairment, including a

65 The incidence of early-onset colorectal cancer (CRC), which occurs in ind

66 Early-onset colorectal cancer (EOCRC) incidence rates (I

67 utY (MUTYH) variants may prove predictive of early-onset colorectal cancer known an MUTYH-associated

68 especially significant in the ASD group with early onset compared with the GP group, with an adjusted

69 These data show that loss of Dicer1 leads to early-onset cone cell degeneration and suggest that Dice

70 response element-binding protein, leading to early-onset cone protection.

71 argest net reclassification improvements for early-onset coronary heart disease, atrial fibrillation

72 "unique" CRC, which were subclassified into early-onset CRC (EOCRC) and late-onset CRC (LOCRC), and

73 ted States, but risk factors associated with early-onset CRC (EOCRC) have not been widely studied.

74 e, we summarize our current understanding of early-onset CRC and discuss how we should strategize fut

75 an be utilized to elucidate the aetiology of early-onset CRC and inform the development of effective

76 and family history, yet 3 of 4 patients with early-onset CRC have no family history of the disease.

77 nts with diabetes, who are at higher risk of early-onset CRC than the general population.

78 h diabetes mellitus are at increased risk of early-onset CRC.

79 Early-onset CRCs have differential clinical, pathologica

80 candidiasis-ectodermal dystrophy suffer from early-onset cutaneous inflammatory lesions accompanied b

81 cally developed on behalf of the Network for Early Onset Cystic Kidney Disease (NEOCYST) by an intern

82 ating variant in a pedigree with aggressive, early-onset DCM.

83 tic referral cohort enriched in familial and early-onset DCM.

84 olved in the developmental process underwent early-onset decline during aging.

85 ree unrelated patients who presented with an early-onset delay in overall development, progressive at

86 , and had a strong positive association with early onset dementia (HR = 1.32, 95% CI = 1.24-1.40).

87 Frontotemporal dementia (FTD) is an early onset dementia characterized by progressive atroph

88 mentia (FTD), the second most common type of early-onset dementia, is available, but therapeutics are

89 oral dementia (bvFTD) is a frequent cause of early-onset dementia.

90 e disorders (HAND), such as encephalitis and early-onset dementia.

91 irment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological invol

92 d with a history of depression (particularly early-onset depression) and current depression.

93 We define a set of core features: early-onset developmental delay with delayed motor miles

94 ion (c.A1063C: p.Lys355Gln) in a family with early-onset diabetes and mild TRMA traits transmitted in

95 rome of microcephaly, epilepsy, and neonatal/early-onset diabetes, highlighting a critical role of YI

96 All patients had neonatal/early-onset diabetes, severe microcephaly, and epilepsy.

97 erance without LM (NLDI) is characterized by early-onset digestive discomfort following milk ingestio

98 Early onset disease correlates with anti-RBC antibodies,

99 e hypothesized that mutations that result in early onset disease would have more severe changes in fu

100 ed (case fatality rate 6.2%), of whom 27 had early-onset disease (case fatality rate 5.2%) and 26 had

101 Incidence for early-onset disease (n=517) was 0.57 per 1000 livebirths

102 The burden of early-onset disease has not declined despite the introdu

103 BS-specific antibodies protect newborns from early-onset disease, yet their impact on GI colonization

104 apes cluster into five general patterns; (2) early-onset diseases tend to have lower prevalence than

105 Affected individuals exhibit early onset drug-resistant seizures, developmental delay

106 has shown that children with FA manifest an early onset dysbiosis with the loss of Clostridiales spe

107 nfants with reported feeding difficulties or early-onset eczema would benefit from support to promote

108 AAT deficiency (AATD) is associated with early-onset emphysema and chronic obstructive pulmonary

109 We aimed to identify the genetic ecause of early-onset emphysema in a five-generation French-Canadi

110 variant in the gene PTPN6 is responsible for early-onset emphysema in this family.

111 ing proteinase inhibitors and predisposes to early-onset emphysema through a loss-of-function mechani

112 , the young adult patients may proceed to an early-onset end-stage macular degeneration with frank at

113 ) were classified into one or more subtypes: early onset (EO), lethal, and/or clinically significant.

114 We hypothesized that very early onset EoE (V-EoE) would be enriched for early-life

115 Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse mode

116 Dravet syndrome (DS) is a severe early-onset epilepsy associated with heterozygous loss-o

117 ncephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing ne

118 thy with microcephaly, often associated with early-onset epilepsy.

119 G, p.N115D) in six patients with intractable early onset epileptic encephalopathy.

120 381R, and F416L) linked to severe infancy or early-onset epileptic encephalopathy exhibited markedly

121 patients exhibiting developmental delay and early-onset epileptic encephalopathy.

122 ty characterized by lymphocytic defects with early-onset Epstein-Barr virus (EBV)-associated lymphoma

123 Severe early-onset erythroderma and gut inflammation, with mass

124 nal, prospective cohort of 203 patients with early-onset ES (median [range] age at last follow-up: 16

125 The majority of early-onset familial AD (EOfAD) cases involve dominant m

126 was used to calculate a predictive model for early-onset FGR (birthweight centile < 3rd/< 10th with a

127 FGR prevalence was high (10.3%), however early-onset FGR was uncommon (2.3%).

128 obust performance for detection/exclusion of early-onset FGR.

129 f placental sonographic screening to predict early-onset FGR.

130 The rare, early onset forms of the disease are all caused by mutat

131 genes potentially contributing primarily to early-onset forms of DCM.

132 35 genes responsible for autosomal dominant early-onset forms of deafness, predicted to be pathogeni

133 nt exacerbations (IE)" (n = 150, 93.7%) and "Early-onset frequent exacerbations (FE)" (n = 10, 6.3%).

134 t evidence suggests that the breast cancer 1 early onset gene (BRCA1) influences numerous peripheral

135 Breast cancer 1 early onset gene codes for the DNA repair enzyme, breast

136 We identified EIF2AK2 variants implicated in early onset generalized dystonia, which can be dominantl

137 undertaken to identify a monogenic cause of early onset, generalized dystonia.

138 emerging as one of the most common causes of early-onset genetic dystonia, much remains to be underst

139 of 35 children with congenital aniridia and early-onset glaucoma who underwent CTT between May 1997

140 ss in children with congenital aniridia with early-onset glaucoma.

141 The rates of early-onset Group B Streptococcus (GBS) disease (EOGBS)

142 loss, which contributes to one third of all early-onset hearing loss in seropositive populations.

143 the functional characteristics of IHCs from early-onset hearing loss mice harbouring the allele Cdh2

144 The molecular cause(s) for early onset heart failure in people living with HIV-1 in

145 Both the early-onset high-persistent and adolescent-onset increas

146 The early-onset high-persistent trajectory was associated wi

147 Theory predicts that early-onset hybrid inviability may stem from conflict be

148 were assessed in genes associated with very early-onset IBD (VEO-IBD), by estimating genetic penetra

149 onogenic neurodegenerative disorders with an early onset in infancy or childhood.

150 ia PRSs were associated with a trajectory of early-onset increasing emotional problems (odds ratio=1.

151 patients are lymphocytopenic, with increased early-onset infection and autoimmunity risk that is not

152 ed by absent B cells, agammaglobulinemia and early onset infections in five unrelated families.

153 Very early onset inflammatory bowel disease (VEOIBD) denotes

154 Very-early-onset inflammatory bowel disease (VEO-IBD) is a he

155 X-linked juvenile retinoschisis (XLRS) is an early-onset inherited condition that affects primarily m

156 del for investigating the role of miR-34c in early onset insulin resistance and visceral fat mass inc

157 Here, we show that the CTE-associated early-onset intestinal failure and lethality of Spint2-d

158 rstanding the genetic background and risk of early-onset is suggestive of skin barrier dysfunction et

159 ll as traditional and novel risk factors for early-onset ischaemic stroke, such as air pollution.

160 ha kinase 2 (EIF2AK2) gene, segregating with early onset isolated generalized dystonia in 5 patients

161 family: two affected offspring suffered from early-onset l-DOPA-responsive Parkinson's disease.

162 risk of AD, but foremost enables to predict early-onset, lending further credence to the penetrance

163 loss of PHF6 combined caused fully penetrant early-onset leukemia.

164 ot examined whether this association is with early-onset (< 34 weeks) or late-onset (> 34 weeks) FGR;

165 Hdac10 deletion accelerated KRAS-driven early-onset lung adenocarcinomas, increased macrophage i

166 Decreased visual acuity and early-onset maculopathy were present in all patients.

167 of-onset is bimodal; one-third of cases have early onset (mean 10.3 years) and two-thirds later onset

168 the influence of psychiatric risk alleles on early-onset mental health trajectories and whether the t

169 These mice developed early-onset metastatic prostate cancer with complete pen

170 of infancy (GACI), characterized by severe, early-onset mineralization of the cardiovascular system,

171 HODSWhole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was followed by inve

172 <5 years old; lesional and nonlesional) with early-onset moderate-to-severe AD (<=6 months) and 17 he

173 ty, supporting its therapeutic potential for early-onset monogenic disorders.

174 ntellectual disability often associated with early-onset movement disorders comprising cerebellar ata

175 We describe a patient with early-onset multi-organ immune dysregulation resulting f

176 dependent, with increasing fibrillation and early onset mutations having the strongest effect on imm

177 COL13A1 mutations present mostly with severe early-onset myasthenic syndrome with feeding and breathi

178 roups hospitalized in the United States with early-onset myocardial infarction (age <=55 years) recru

179 impact of many common variants) pathways for early-onset myocardial infarction remain uncertain.

180 ean age of the 2081 patients presenting with early-onset myocardial infarction was 48 years, and 66%

181 Of the patients with early-onset myocardial infarction, 359 (17.3%) carried a

182 gher prevalence among patients presents with early-onset myocardial infarction.

183 associated with a >3-fold increased odds of early-onset myocardial infarction.

184 The classic phenotype, early onset myopathy, areflexia, respiratory distress an

185 ncy body mass index (BMI; kg/m2) and risk of early-onset neonatal bacterial sepsis (EOS).

186 Pathway loss drives early-onset neurodegeneration, underscoring its function

187 n hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I h

188 Here, we describe an early-onset neurodegenerative syndrome caused by loss-of

189 Early-onset neurodevelopmental conditions (e.g., autism)

190 ds explaining some component of male-bias in early-onset neurodevelopmental conditions.

191 e to many basal ganglia disorders, including early-onset neurodevelopmental disorders such as obsessi

192 Motor stereotypies occurring in early-onset neuropsychiatric diseases are associated wit

193 12 months, indicating substantial risks for early onset obesity among South African children.

194 ess is known about the genetics specific for early-onset obesity and with only a few studies conducte

195 ificantly reduced Pomc expression as well as early-onset obesity in mice of either sex that recapitul

196 gulating neuronal circuit formation leads to early-onset obesity in zebrafish, mouse, and humans.

197 th congenital leptin deficiency cause severe early-onset obesity that can be mitigated by administeri

198 ence of which induces marked hyperphagia and early-onset obesity.

199 Affected subjects had an early onset of a hyperkalemic hyperchloremic phenotype,

200 ated cataracts, but there was no evidence of early onset of age-related cataracts in DS.

201 trite (ONOO(-)), which is upregulated at the early onset of AKI.

202 ion, this trajectory was associated with the early onset of allergic sensitization.

203 The detection of biomarkers expressed at early onset of carcinogenesis, hold promise for the iden

204 ge-related cognitive decline might result in early onset of cognitive impairment and dementia.

205 ident populations, explaining the frequently early onset of colitis symptoms following treatment init

206 The early onset of dimerization of L18W-PGLa and MG2a at low

207 e, identifying a subgroup of children having early onset of each initial autoantibody, i.e., IAA-firs

208 s over the 16-week treatment period, with an early onset of effect (at day 14).

209 geted molecular MRI most accurately detected early onset of fibrosis, whereas the fibrogenesis probe

210 esterol experienced IAA-first earlier, while early onset of GADA-first was preceded by reduced sphing

211 The early onset of I(Ca) is more prominent at 35 degrees C t

212 , enhanced excitatory synaptic strength, and early onset of neural network activity.

213 g article of this series, we reported on the early onset of parallel heterodimer formation of the two

214 al pH regulation and are associated with the early onset of Parkinson Disease.

215 ity of chloroplast movements both during the early onset of photoinhibition and under sustained exces

216 electrolyte wetting of collectors results in early onset of SEI instability and dendrites.

217 This model exhibits early onset of seizures, rapid progression, and 100% pen

218 in FAMMM syndrome are at increased risk for early onset of several cancer types beyond the known can

219 MM syndrome families have increased risk for early onset of several cancer types beyond the known can

220 We report the early onset of severe hypertrophic cardiomyopathy in a n

221 Smoking usually begins in adolescence, and early onset of smoking has been linked to increased risk

222 tion is stronger at younger ages, suggesting early onset of subclinical atherosclerosis among young a

223 cutive dysfunctions can be apparent from the early onset of the disease.

224 is concentrated mainly on the search for an early onset of the second cell-fate decision, the specif

225 thylation quantitative trait loci, given the early onset of these disorders.

226 namics of cancer by suggesting a generalized early onset of tumorigenesis followed by slow mutational

227 The early onset of weaning in modern humans has been linked

228 Despite similarly early onsets of gene expression changes, we observed sho

229 the BACAP study, we found that frequent and early onsets of VTE after diagnoses of PDAC are associat

230 We observed an early onset oncogenic transformation, accelerated tumor

231 l complex I accessory subunit NDUFS4 develop early-onset optic atrophy, severe systemic mitochondrial

232 antigens, including those who have exhibited early onset or accelerated cardiac allograft vasculopath

233 f which are highly penetrant and often cause early onset or atypical symptoms.

234 dal papules (PPP), joint hyperextensibility, early onset osteoarthritis, ankylosing spondylitis, and

235 mental dysplasia of the hip (DDH) often show early-onset osteoarthritis (OA); however, the molecular

236 Mice with TRAF3 deleted in MPCs develop early onset osteoporosis due to reduced bone formation a

237 tations in PRKN are the most common cause of early onset Parkinson's disease.

238 and mutations in Parkin are a major cause of early-onset Parkinson's disease (PD).

239 induced kinase 1 (PINK1) can cause recessive early-onset Parkinson's disease (PD).

240 ase, are associated with autosomal recessive early-onset Parkinson's disease (PD).

241 of familial Parkinson's disease and sporadic early-onset Parkinson's disease (sEOPD) in a mainland Ch

242 syndrome-a parkinsonism with dementia(1)-and early-onset Parkinson's disease(2).

243 nxiety disorders, seizures and epilepsy, and early-onset Parkinson's disease.

244 was identified in individuals suffering from early-onset Parkinson's disease.

245 We report the association of early-onset parkinsonism with the PPP2R5D p.E200K mutati

246 E200K mutation to be a possible new cause of early-onset parkinsonism.

247 and R839C, which are linked to rare forms of early-onset Parkinsonism.

248 Compared with older adults, early-onset PBC in younger patients requiring LT had hig

249 e 53 to glutamate, as found in patients with early-onset PD, weakens the interaction of alpha-synucle

250 key mitophagy regulators PINK1 and Parkin to early-onset PD.

251 RNA-seq profiling using tape strips in early-onset pediatric AD captures immune and barrier alt

252 cleavage of RIPK1 in humans and result in an early-onset periodic fever syndrome and severe intermitt

253 y the MCM3AP gene, cause autosomal recessive early-onset peripheral neuropathy with or without intell

254 ting the role of selective pressures in this early-onset phenotype.

255 ) and Stx3 (f/f(CRX-Cre)) ] exhibited rapid, early-onset photoreceptor degeneration and functional de

256 Herein, we have identified a new form of early-onset PRA (EOPRA) in the same breed.

257 We describe a model for early onset preeclampsia (EOPE) that uses induced plurip

258 d invasion regulated by ACTN4 is impaired in early onset preeclampsia.

259 (ACTN)4, was dysregulated in placentas from early onset preeclampsia.

260 h might underlie the pathogenic mechanism of early-onset preeclampsia developing secondary to molar p

261 own to pose an extremely high risk of severe early-onset preeclampsia if left untreated.

262 isting chronic cardiovascular dysfunction in early-onset preeclampsia, and thus sharing the pathophys

263 get for restoration of placental function in early-onset preeclampsia.

264 These individuals experienced early onset progressive dystonia with predominant cervic

265 d flies lacking functional autophagy develop early onset progressive neurodegeneration.

266 well characterized disease model developing early onset progressive peripheral neuropathy with hypo-

267 with oculomotor apraxia type 1 (AOA1) is an early onset progressive spinocerebellar ataxia caused by

268 e strains commonly used in hearing research: early-onset progressive hearing loss (C57BL/6J and C57BL

269 us mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT

270 ), currently periodontitis grade C, presents early onset, rapid progression, and a poorly established

271 32 of the 37 ARS-encoding loci cause severe, early-onset recessive phenotypes.

272 iple genes are known to increase the risk of early-onset renal cancer (eoRC).

273 and p.(Ser486fs), and presented with severe early-onset retinal degeneration.

274 velopmental dysfunction in microcephaly with early onset seizures (MCSZ) to neurodegeneration in atax

275 2Trp mutation by Nestin-Cre also resulted in early onset seizures and death.

276 en affected children that showed features of early-onset seizures, developmental delay, microcephaly,

277 pairment, social-communication disorder, and early-onset seizures.

278 A and B cause serious infections, including early onset sepsis and meningitis in newborns.

279 ociation between unit policies and outcomes (early-onset sepsis, survival at discharge, survival at d

280 ost common clinical diagnosis was LCA and/or early onset severe retinal dystrophy in 82% (19/23), fol

281 n 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases.

282 in TBC1D8B in two families with an X-linked early-onset SRNS with FSGS.

283 autosomal recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and mic

284 In the early-onset subgroup we found novel association with MHC

285 an one year from Raynaud's Phenomenon onset (Early Onset Subset-EOS), and all the others (Long Standi

286 potential to use endogenous biomarkers with early onset, such as astrogliosis, as regulators of neur

287 ical overlap, high rates of comorbidity, and early onset suggest common underlying mechanisms.

288 and neuroimaging findings in 3 patients with early onset symptomatic amyloid-beta cerebral amyloid an

289 testing is recommended for infants with very-early-onset symptomatic disease and for children with a

290 SAVI patients present with early-onset systemic inflammation and interstitial lung

291 his population due to the high prevalence of early onset T2D at lower BMI.

292 e S20G mutation in amylin is associated with early-onset T2D.

293 ivation of cyclin-dependent kinase 1 (CDK1), early onset to S-phase and mitosis, and increased chromo

294 Notably, the early-onset tumor formation observed in p53(5KR/5KR) and

295 osis, were tumor prone but failed to develop early-onset tumors.

296 igh rates of obesity, insulin resistance and early-onset type 2 diabetes mellitus (T2DM).

297 Culture-proven aspiration pneumonia and early-onset ventilator-associated pneumonia occurred in

298 Early-onset viral reactivations or infections are common

299 c mouse model of CMT2A that developed severe early onset vision loss and neurological deficits, axona

300 Early onset was defined as disease in the first 6 days o