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PubPharm (245)
1
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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2
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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3
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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4
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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5
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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6
RFC1-related disorder presenting recurrent syncope
enthalten in:
Journal of neurology
| 2024
von
Tsuboyama, Y.
|
Takahashi, A.
|
Furukawa, S.
| +12
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7
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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8
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease
enthalten in:
Cerebellum (London, England)
| 2024
von
Matsukawa, T.
|
Porto, K.
|
Mitsui, J.
| +8
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9
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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10
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
enthalten in:
Cerebellum (London, England)
| 2023
von
Hama, Y.
|
Date, H.
|
Fujimoto, A.
| +7
ErratumIn: Cerebellum. 2022 Nov 2;:. - PMID 36322330
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Medienart
245
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199
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Zeitschriftentitel
20
Neurogenetics
13
Journal of human genetics
11
Journal of the neurological sciences
11
Neurology and Clinical Neuroscience
8
Internal medicine (Tokyo, Japan)
8
Rinsho shinkeigaku = Clinical neurology
6
American journal of human genetics
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Cerebellum (London, England)
6
Scientific reports
5
Annals of neurology
5
Archives of neurology
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Journal of neurology
5
Journal of the peripheral nervous system : JPNS
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The cerebellum
4
Angiogenesis
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Annals of clinical and translational neurology
4
Neuroscience research
4
Parkinsonism & related disorders
4
The Cerebellum
3
BMC neurology
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Thema
122
Journal Article
67
Research Support, Non-U.S. Gov't
34
Case Reports
10
Letter
9
Multiple system atrophy
8
Alkyl and Aryl Transferases
8
EC 2.5.-
8
Whole-exome sequencing
7
Amyotrophic lateral sclerosis
7
Genetics
6
English Abstract
6
Intellectual disability
6
coenzyme Q10
5
1339-63-5
5
EJ27X76M46
5
Peripheral neuropathy
5
Proteins
5
Spinocerebellar ataxia
5
Ubiquinol
5
Ubiquinone
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Erscheinungszeitraum
104
2020-
129
2010-2019
12
2000-2009
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Sprache
193
Englisch
10
Japanisch
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