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/vufind/Search/Results?lookfor=%22Mo%2C+Alisa%22&type=Person&sort=year
/vufind/Search/Results?lookfor=%22Mo%2C+Alisa%22&type=Person&sort=year
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PubPharm (21)
1
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
enthalten in:
JAMA neurology
| 2023
von
Akula, S.
|
Chen, A.
|
Neil, J.
| +129
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2
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay
enthalten in:
Clinical genetics
| 2023
von
Mo, A.
|
Paz-Ebstein, E.
|
Yanovsky-Dagan, S.
| +7
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3
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia : SPG15
enthalten in:
Brain : a journal of neurology
| 2023
von
Saffari, A.
|
Kellner, M.
|
Jordan, C.
| +31
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4
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia : SPG15
enthalten in:
Brain
| May 2023
von
Saffari, A.
|
Kellner, M.
|
Jordan, C.
| +31
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5
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
enthalten in:
Proceedings of the National Academy of Sciences of the United States of America
| 2023
von
Akula, S.
|
Marciano, J.
|
Lim, Y.
| +35
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6
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2022
von
Mo, A.
|
Saffari, A.
|
Kellner, M.
| +15
CommentIn: Mov Disord. 2023 May;38(5):911-913. - PMID 37303094
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7
Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Gable, D.
|
Mo, A.
|
Estrella, E.
| +3
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8
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy
enthalten in:
Neurology. Genetics
| 2022
von
Kunta, A.
|
Jueng, J.
|
Jordan, C.
| +3
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9
Neurodevelopmental profile of HIVEP2-related disorder
enthalten in:
Developmental medicine and child neurology
| 2022
von
Mo, A.
|
Snyder, L.
|
Babington, O.
| +3
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10
Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2022
von
Gable, D.
|
Mo, A.
|
Estrella, E.
| +3
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Nerve Tissue Proteins
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147336-22-9
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hereditary spastic paraplegia
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