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PubPharm (1.114)
1
Measuring the Landscape of CpG Methylation of Individual Repetitive Elements
enthalten in:
bioRxiv.org
| 2024
von
Suzuki, Y.
|
Korlach, J.
|
Turner, S.
| +10
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2
Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1
enthalten in:
Internal medicine (Tokyo, Japan)
| 2024
von
Takegami, N.
|
Matsukawa, T.
|
Hamada, M.
| +8
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3
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis
enthalten in:
Annals of clinical and translational neurology
| 2024
von
Naruse, H.
|
Ishiura, H.
|
Esaki, K.
| +20
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4
Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia
enthalten in:
Journal of atherosclerosis and thrombosis
| 2024
von
Furuta, Y.
|
Osaki, Y.
|
Nakagawa, Y.
| +29
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5
Efficient variant phasing utilizing a replication cycle reaction system
enthalten in:
ResearchSquare.com
| 2024
von
Toda, T.
|
Mitsutake, A.
|
Ishiura, H.
| +3
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6
Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease
enthalten in:
Internal medicine (Tokyo, Japan)
| 2024
von
Yamaguchi-Takegami, N.
|
Takahashi, A.
|
Mitsui, J.
| +10
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7
RFC1-related disorder presenting recurrent syncope
enthalten in:
Journal of neurology
| 2024
von
Tsuboyama, Y.
|
Takahashi, A.
|
Furukawa, S.
| +12
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8
Paraneoplastic Cerebellar Degeneration Leading to an Early Diagnosis of Peritoneal Serous Papillary Carcinoma
enthalten in:
Internal medicine (Tokyo, Japan)
| 2024
von
Yasuda, T.
|
Shimizu, J.
|
Miyagawa, T.
| +3
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9
CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy
enthalten in:
Journal of genetics and genomics = Yi chuan xue bao
| 2024
von
Shi, Y.
|
Cao, C.
|
Zeng, Y.
| +16
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10
Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy
enthalten in:
ResearchSquare.com
| 2024
von
Tsuji, S.
|
Nakahara, Y.
|
Mitsui, J.
| +82
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1.114
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Zeitschriftentitel
40
Journal of the neurological sciences
37
Annals of neurology
34
Rinshō-shinkeigaku
33
Neurogenetics
32
Archives of neurology
31
Journal of human genetics
28
Acta neuropathologica
26
Rinsho shinkeigaku = Clinical neurology
23
Pediatric nephrology
22
Journal of neurology
20
Clinical and experimental nephrology
20
Internal medicine (Tokyo, Japan)
18
Neuroscience research
17
American journal of human genetics
17
Neurology
16
Alzheimer's & Dementia
15
Neurology and Clinical Neuroscience
13
Muscle & nerve
12
Alzheimer's & dementia
12
Cerebellum (London, England)
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Thema
471
Journal Article
258
Research Support, Non-U.S. Gov't
119
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47
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38
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29
English Abstract
24
Nerve Tissue Proteins
21
Biomarkers
17
Comparative Study
16
26700-71-0
16
Amyotrophic lateral sclerosis
16
Peptides
16
polyglutamine
15
Membrane Proteins
14
Genetics
13
Idiopathic nephrotic syndrome
13
Proteins
12
Comment
12
DNA
11
Cerebellar ataxia
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Erscheinungszeitraum
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