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PubPharm (599)
1
Patterns of subregional cerebellar atrophy across epilepsy syndromes : An ENIGMA-Epilepsy study
enthalten in:
Epilepsia
| 2024
von
Kerestes, R.
|
Perry, A.
|
Vivash, L.
| +61
UpdateOf: bioRxiv. 2023 Oct 23;:. - PMID 37961570
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2
Topographic Divergence of Atypical Cortical Asymmetry and Regional Atrophy Patterns in Temporal Lobe Epilepsy: A Worldwide ENIGMA Study
enthalten in:
bioRxiv.org
| 2024
von
Park, B.
|
Larivière, S.
|
Rodríguez-Cruces, R.
| +81
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3
De novo
variants in the non-coding spliceosomal snRNA gene
RNU4-2
are a frequent cause of syndromic neurodevelopmental disorders
enthalten in:
bioRxiv.org
| 2024
von
Chen, Y.
|
Dawes, R.
|
Kim, H.
| +94
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4
COVID-19 response in a long-term care facility for people with epilepsy
enthalten in:
Epilepsia open
| 2024
von
Delazer, L.
|
Pressler, N.
|
Balestrini, S.
| +8
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5
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Chen, Y.
|
Dawes, R.
|
Kim, H.
| +94
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6
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
enthalten in:
American journal of human genetics
| 2024
von
Bhat, S.
|
Rousseau, J.
|
Michaud, C.
| +21
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7
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing
enthalten in:
Epilepsia
| 2024
von
Coppola, A.
|
Krithika, S.
|
Iacomino, M.
| +32
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8
A worldwide ENIGMA study on epilepsy-related gray and white matter compromise across the adult lifespan
enthalten in:
bioRxiv.org
| 2024
von
Chen, J.
|
Ngo, A.
|
Rodríguez-Cruces, R.
| +85
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9
A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN
enthalten in:
bioRxiv : the preprint server for biology
| 2024
von
Chen, J.
|
Ngo, A.
|
Rodríguez-Cruces, R.
| +85
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10
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Jeffries, L.
|
Mis, E.
|
McWalter, K.
| +149
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Epilepsia
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Brain : a journal of neurology
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bioRxiv.org
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Neurology
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American journal of human genetics
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Annals of neurology
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The Lancet. Neurology
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The lancet <London> / Neurology
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Epilepsy & behavior : E&B
9
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8
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8
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8
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7
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Anticonvulsants
49
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Epilepsy
30
Nerve Tissue Proteins
28
Case Reports
23
Comparative Study
23
epilepsy
15
Multicenter Study
15
NAV1.1 Voltage-Gated Sodium Channel
14
EC 2.7.11.1
13
SCN1A protein, human
12
Comment
12
Homeodomain Proteins
12
Letter
12
Repressor Proteins
11
ATP Binding Cassette Transporter, Subfamily B, ...
10
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