Sporadic ALS
Oligogenic basis of sporadic ALS
... in ALS, and 4 additional patients had probably pathogenic rare variants in genes pre- viously implicated in motor neuron disease or peripheral ...of sporadic ALS: despite sharing a founder mutation, ...
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Gene ontology analysis of pairwise genetic associations in two genome-wide studies of sporadic ALS
... for sporadic ALS ...including ALS, and the results presented here, we conclude that genes in this GO category should be examined more carefully in GWAS for sporadic ...
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Conformational specificity of the C4F6 SOD1 antibody; low frequency of reactivity in sporadic ALS cases
... the ALS variant G93A of SOD1, has been identified as specifically recognizing a conformation shared by many ALS mutants of ...of sporadic ALS (sALS) patients has produced inconsistent ...
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Potential Regulators of Sporadic ALS Development and Alternative Therapeutic Options
... Amyotrophic Lateral Sclerosis (ALS) is the most common neurodegenerative disorder. It is also among the most lethal as life expectancy is between 2 and 5 years after diagnosis. Sporadic ALS (sALS) ...
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Identification and therapeutic rescue of autophagosome and glutamate receptor defects in C9ORF72 and sporadic ALS neurons
... these sporadic ALS iMNs share defects in autophagosome formation and the aberrant accumulation of glutamate ...C9ORF72 ALS/FTD and sporadic ALS ...and sporadic ALS ...
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Oligodendrocytes contribute to motor neuron death in ALS via SOD1 dependent mechanism
... four sporadic ALS samples, three carrying C9orf72 repeat expansion, as well as one carrying SOD1 and one TARDBP mutations ...two sporadic lines 002 and 009 were reprogrammed with both, the classic ...
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Assessment of a multiple biomarker panel for diagnosis of amyotrophic lateral sclerosis
... We found that levels of cystatin C in CSF were signifi- cantly lower in patients with sporadic ALS than in controls. While several studies have reported a similar decrease in cystatin C levels in patients ...
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IL-17A is increased in the serum and in spinal cord CD8 and mast cells of ALS patients
... in sporadic amyotrophic lateral sclerosis (sALS) is not well understood and no animal model is avail- ...of ALS patients (n = 32; 28 sporadic ALS (sALS) and 4 familial ALS (fALS)) and ...
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Multi-Ethnic Comparison of the Characteristics of Amyotrophic Lateral Sclerosis-Related TBK1 Gene Variants
... familial ALS and ...with sporadic ALS. Patients with familial ALS have more TBK1 LoF variants than sporadic ALS patients, probably because they include family members with LoF ...
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Genotype phenotype relationship in hereditary amyotrophic lateral sclerosis
... SALS: Sporadic ALS; FALS: Familial ALS; CNS: Central nervous system; SOD1: Cu/Zn superoxide dismutase; IAHSP: Infantile ascending hereditary spastic paraplegia; JPLS: Juvenile primary lateral ...
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Drosophila Models of Sporadic Parkinson’s Disease
... factors. Sporadic PD can be monogenic, because a dominant mutation may have occurred de novo or the mutation is ...and sporadic PDs are clinically indistinguishable [10, ...modeling sporadic PD? Are ...
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Case Report Sporadic renal hemangioblastoma in a boy: a rare case report and review of literature
... a sporadic hemangioblastoma of the kidney in a 57-year-old female, in which tumor cells demonstrated unexpected posi- tive staining of PAX2 and focal CD10 ...
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Sporadic Fatal Insomnia in an Adolescent
... of sporadic prion disease among adolescents is ex- tremely ...with sporadic fatal insomnia, a type of sporadic prion ...of sporadic prion ...
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'Worden als een kind' Als welk kind?
... 'Worden als een kind' Als welk kind? Harry E Faber van der Meulen Dordrecht, Nederland Abstract 'Becoming like a child' Like what child? 'Becoming like a child' is an idea often expressed in the New T[.] ...
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Surgical strategy of bilateral synchronous sporadic renal cell carcinoma—experience of a Chinese university hospital
... Bilateral synchronous sporadic renal cell carcinoma (BSSRCC) is an uncommon disease accounting for 3~4.2% renal carcinomas [1, 2]. It is a difficult surgical dilemma for the urologist to formulate the therapeutic ...
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Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early onset Alzheimer’s disease
... Screening of exon 16 and exon 17 of APP in 451 sEOAD identified five samples (Table 2) heterozygous for a 6 base pair (bp) intronic deletion (rs367709245, IVS17 83-88delAAGTAT) located downstream of exon 17 with a minor ...
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Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients
... The Greek series is composed of 151 sporadic PD patients (mean age 70.3, range 40 to 95, 46% women) and 186 age-, gender-and ethnicity-matched neurologically healthy controls. Three patients had an onset before 45 ...
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Towards Evidence-Based Management of Inherited Breast and Breast-Ovarian Cancer
... In oncology, the scientific standard is a randomized trial. As is evident from the reports (beside chemoprevention) mentioned above, we have no randomized trials. You cannot randomize a woman to mastectomy, and you ...
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Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas
... (34 sporadic and 7 familial) and 11 medullary thyroid cancers (MTC) (10 sporadic and 1 familial) for LOH near a variety of potentially important genetic loci: (a) the multiple endocrine neoplasia type 2A ...
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Circadian Rhythm Disruption in Cancer Biology
... in sporadic and familiar breast tumors when compared with normal breast ...with sporadic forms, suggesting that a po- tential deregulation of the circadian clock may contribute to the inherited form of the ...
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