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1 ly 10% of ALS cases are familial and 90% are sporadic.
2 All patients were Caucasian and half were sporadic.
4 sing 462 essential tremor (ET) subjects (285 sporadic, 125 with family history, and 52 probands from
7 in Sting-deficient (Sting(gt/gt)) mice in a sporadic AAD model induced by challenging mice with a co
11 rental or multiple-sibling family history of sporadic AD (PREVENT-AD [PRe-symptomatic EValuation of E
14 u, Nf-L, and GFAP predict the development of sporadic AD and cognitive decline, and changes in struct
15 poE4) is the largest genetic risk factor for sporadic AD and contributes to AD pathogenesis by influe
16 rupt lysosomal function in DS is relevant to sporadic AD where APP-betaCTF, but not APP, is also elev
17 omal-lysosomal pathobiology emerges early in sporadic AD, where neuronal APP-betaCTF is also elevated
21 a therapeutic target for diabetic-associated sporadic AD.SIGNIFICANCE STATEMENT More than 95% of the
22 age-related hearing loss (mARHL) and simplex/sporadic age-related hearing loss (sARHL) cases and cont
23 ease, genomic investigations of familial and sporadic ALL have revealed a growing number of genetic a
24 ause these organs are only described through sporadic allusions in the literature, this review aims t
27 g platform that recapitulates key aspects of sporadic ALS and uncovers both an initial neuroprotectiv
29 pinal motor neurons dissected from C9-ALS or sporadic ALS patients were highly concordant with each o
33 d associations between mutations in UGT8 and sporadic ALS, and between ST6GAL1 mutations and conversi
34 t 5 years younger than those with apparently sporadic ALS, and we have shown that this is a result of
37 ys predicted to be involved in C9 as well as sporadic ALS/FTD etiology, including the proteasomal and
38 ts have been observed to correlate in C9 and sporadic ALS/FTD patients alike, suggesting that changes
39 ature compared with samples from people with sporadic ALS/FTD; this increased interferon response can
40 fibrillary acidic protein (GFAP) with common sporadic Alzheimer disease (AD) and cognitive decline is
45 unmet need for presymptomatic biomarkers of sporadic Alzheimer's disease (AD), we leveraged the rece
46 xhibited more pronounced motor symptoms than sporadic Alzheimer's disease patients with the same Clin
47 au PET binding overlapped with those seen in sporadic Alzheimer's disease, but with a greater cortica
48 ta (measured using identical procedures) for sporadic Alzheimer's disease, familial Alzheimer's disea
49 ible lineages emerged earlier, but showcased sporadic AMR determinant acquisition largely after 1960,
52 For instance, the majority of patients with sporadic amyotrophic lateral sclerosis (up to 97%) and a
53 ated by the use of cells from a patient with sporadic amyotrophic lateral sclerosis but can be applie
54 reening approach identified that C9orf72 and sporadic amyotrophic lateral sclerosis induced astrocyte
58 bipartite genome of Vibrio cholerae harbors sporadic and conserved MGEs that contribute in the disea
59 ariants in the Tbk1 gene associate with both sporadic and familial amyotrophic lateral sclerosis (ALS
60 e human thrombopoietin receptor (TpoR) drive sporadic and familial essential thrombocythemias (ETs).
64 chanism leading to neurodegeneration in both sporadic and familial PD upon parkin loss-of-function re
68 The modern distribution of H4a1 is rare and sporadic and has been identified in areas including the
71 s involved in spontaneous prion formation in sporadic and inherited human prion diseases or equivalen
73 cases of congenital heart disease (CHD) are sporadic and nonsyndromic, with poorly understood etiolo
77 Most of the cases of PDS in our study were sporadic, and the risk to first-degree relatives is lowe
78 ese gains will be opportunistic, uneven, and sporadic, and they will suffer from the law of diminishi
79 ely susceptible to antimicrobials but showed sporadic antimicrobial resistance (AMR) gene acquisition
83 Consequently, a watch-and-wait policy for sporadic asymptomatic cPanNENs <=2 cm seems justified an
85 P was asymptomatic in 2 patients; 2 reported sporadic attacks; and 1 reported recurrent attacks (>4 a
89 thirty-four patients (46% men) with single, sporadic, biopsy-proven RCC (median size +/- standard de
90 (2006-2013), study participants with single, sporadic, biopsy-proven RCC were included to calculate t
91 ermine the frequency of the R337H variant in sporadic breast cancer patients from Parana state, South
92 ion of the BRCA1 gene in both hereditary and sporadic breast cancers, and other BRCA1-associated canc
94 in living cells, and transcription occurs in sporadic bursts, but how these phenomena are related is
97 hese disorders because, unlike patients with sporadic cancer, these patients require specialised life
103 for studies reporting norovirus outbreak or sporadic case genotypes and merged this with data on pro
105 seasonal and genotypic associations between sporadic cases and outbreaks are suggestive of contempor
113 ypes of IAVs can infect swine; however, only sporadic cases of infection with avian IAVs are reported
114 ients with telomerase mutations but also for sporadic cases of IPF associated with physiological agin
116 We investigated the predictive value of sporadic cases on outbreaks using a 2-state discrete Mar
117 We investigated the predictive value of sporadic cases on outbreaks using a two-state discrete M
119 l suggested that the 3-day moving average of sporadic cases was positively associated with the probab
121 ly in presence of atypical phenotypes and/or sporadic cases with all healthy relatives is not possibl
122 roteins aggregating in ALS/FTD, including in sporadic cases, are also targeted by autophagy and affec
130 diverse deposition of PrP(Sc) in genetic and sporadic CJD argues against uniform mechanisms of propag
133 ve the world's highest recorded incidence of sporadic colorectal cancer (CRC) (~91:100,000), whereas
137 n colonic mucosal tissues from patients with sporadic CRC colonized with vs without CoPEC by quantita
141 We report a detailed study of a cohort of sporadic Creutzfeldt-Jakob disease (sCJD) VV1-2 type-mix
144 er and a better overall survival compared to sporadic, Crohn- and hereditary syndrome-related SBA.
148 pathogenic variant of whom 36% (n=27/74) had sporadic DCM, whereas 60% (21/35) were familial cases.
151 uscular dystrophy (FSHD) is characterized by sporadic de-repression of the transcription factor DUX4
155 the embryonic brain from the consequences of sporadic delamination errors and teratogenic insults.
156 n near the BACE1-cleavage site protects from sporadic dementia, emphasizing APP's role in dementia pa
160 riant identified in a pediatric patient with sporadic dilated cardiomyopathy, and we determined a mol
161 e of alpha-syn aggregates in the cortices of sporadic disease cases emphasizes the need to understand
162 structural variant mutagenesis mechanisms in sporadic disease traits, emphasize the importance of cop
164 reater representation of older patients with sporadic disease, mild phenotypes, and genotype-negative
168 rring mutations) are a pre-dominant cause of sporadic dominant monogenic diseases and play a signific
170 cific human DUX4 to reproduce the low-level, sporadic DUX4 expression of human FSHD muscle as well th
172 spectrum of familial Parkinson's disease and sporadic early-onset Parkinson's disease (sEOPD) in a ma
177 c repertoire reveals a highly heterogeneous, sporadic expression pattern unexplained by measurement n
182 een typical CADASIL, a genetic form, and two sporadic forms of SVCI (with NOTCH3 and without NOTCH3 v
184 laboratory testing need to be considered, as sporadic, genetic, and acquired forms of prion disease h
187 tely lead to the development of familial and sporadic haematological malignancies, including acute ly
188 d in an additional cohort of 167 familial or sporadic HMN/CMT2 patients using next-generation sequenc
190 shown to be progressively down-regulated in sporadic human CRC, and its downregulation correlates wi
191 avian influenza A viruses (IAVs) have caused sporadic human infections and enzootic outbreaks among s
192 statistically robust genetic associations in sporadic human prion disease that implicate intracellula
194 g disease (ILD), the risk among relatives of sporadic idiopathic pulmonary fibrosis (IPF) is not know
195 imiting our knowledge of the contribution of sporadic illness to the overall impact on reported outbr
200 sible for moderate to severe hearing loss in sporadic individuals born to consanguineous couples.
204 ILD among relatives of patients with FPF and sporadic IPF.Methods: Undiagnosed first-degree relatives
207 f exploration that implicate causal genes in sporadic late-onset Alzheimer's disease (LOAD) pathogene
211 cted a probabilistic causal network model of sporadic LOAD and identified TYROBP/DAP12, encoding a mi
216 P = 3.2 x 10(-8), odds ratio (OR) = 1.4) for sporadic miscarriage in our European ancestry meta-analy
217 054 cases from five different ancestries for sporadic miscarriage, 750 cases of European ancestry for
218 -H colorectal carcinoma were associated with sporadic MLH1ph rather than with Lynch syndrome, and the
219 ce imaging (MEMRI) and immune profiling of a sporadic mouse model of SHH-MB, we found the density of
220 uenza virus showed increases in frequency of sporadic mutations in the PB2, PA, and NA segments.
226 gregation resemble the cellular pathology of sporadic neurodegenerative diseases (NDs) and how this c
227 sequencing of 381 patients (232 trios) with sporadic, neurosurgically treated CH, we found that dama
228 riants have been found to affect the risk of sporadic, nonsyndromic CHD, but individual studies to da
230 2012 and June 2016, there were 755 pediatric sporadic norovirus cases and 45 reported outbreaks.
232 in serum magnesium levels was observed among sporadic NPC cases compared to controls (7.1% NPC/1.7% c
233 nts in distal tissues is challenged by their sporadic occurrence in obscure and inaccessible location
237 nts in the TBK1 gene associate with or cause sporadic or familial amyotrophic lateral sclerosis (ALS)
239 vo studies to address mechanisms influencing sporadic or inflammation-driven tumor development, inclu
240 rsonnel with the NM phenotype, compared with sporadic or no production in those with the IM or PM phe
242 tes in acute medicine (1.52 [1.07-2.16]) and sporadic outbreaks in areas with few or no Covid-19 pati
245 rus species B (RVB) has been associated with sporadic outbreaks of human adult diarrheal disease.
247 litis eradication, as they are vulnerable to sporadic outbreaks through reintroduction of the disease
250 Furthermore, we identified three additional sporadic paediatric patients with a remarkably similar p
251 t causes yearly global epidemics, as well as sporadic pandemics due to human adaptation of pathogenic
253 nimal species, causing regular epidemics and sporadic pandemics, with major public health and economi
255 a major genetic contributor to familial and sporadic Parkinson's disease (PD), a neurodegenerative m
256 saposin D domain (rs4747203 and rs885828) in sporadic Parkinson's disease had significantly higher al
257 tivation is a driver of neurodegeneration in sporadic Parkinson's disease or a mere spectator is unkn
258 t Parkinson's disease and 1934 patients with sporadic Parkinson's disease revealed another two varian
260 ith uveitis in the Netherlands, whereas only sporadic patients had a documented previous or active TB
261 chondrial dysfunction and their overlap with sporadic PD (sPD), opening opportunities for therapeutic
263 egulation of SYNJ1 transcript in a subset of sporadic PD brains, implicating a potential role of Synj
268 patterns and genotypic distribution between sporadic pediatric norovirus cases and reported noroviru
273 ether, our study uncovered an association of sporadic Q331K mutation with persistent genome damage ac
274 y one-half of the G6PD mutations are instead sporadic: rare patients with these mutations present wit
275 fects and incurable nature of hereditary and sporadic retinal diseases such as Stargardt disease, age
276 We aimed to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohor
278 n of MITF(E318K) risk for various cancers in sporadic samples from the TCGA and several genetically-e
279 as a disease-associated gene in familial and sporadic SCAD and, together with abnormal vascular pheno
281 in patients who met diagnostic criteria for sporadic schwannomatosis (3 of 7 patients), but not in N
282 es in health care coverage, she had had only sporadic screening for cervical cancer over the past 15
284 timates for risk factors were calculated for sporadic (single year of exacerbations) and recurrent (>
286 n problems associated with bioreactor use is sporadic spikes of chemical toxins, including nanopartic
287 ne (AOM)-based setup for investigations into sporadic (Step 5A) and, when combined with dextran sodiu
289 subjects, with a history suggesting a single sporadic trichilemmal cyst, six were likely familial due
290 e that approximately one-third of apparently sporadic trichilemmal cysts are actually familial with i
292 data suggests that the remaining, apparently sporadic, trichilemmal cysts are genetically distinct fr
295 ls and prevented Sca-1(+) cell expansion and sporadic tumour initiation in mutant mice, thereby demon
296 T-cell depleted immune microenvironment; 4) Sporadic UTUC is characterized by a lower total mutation
298 5N6 viruses tested, from mild infection with sporadic virus dissemination beyond the respiratory trac
300 ting from fractionation of those revealed by sporadic weight-bearing stepping, on the other hand.