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/vufind/Search/Results?lookfor=%22Maroofian%2C+Reza%22&type=Person&sort=year
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PubPharm (315)
1
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici Syndrome patients
enthalten in:
bioRxiv.org
| 2024
von
Deneubourg, C.
|
Salimi Dafsari, H.
|
Lowe, S.
| +21
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2
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Kaiyrzhanov, R.
|
Ortigoza-Escobar, J.
|
Stringer, B.
| +27
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3
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
enthalten in:
Brain : a journal of neurology
| 2024
von
Kaiyrzhanov, R.
|
Rad, A.
|
Lin, S.
| +86
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4
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
enthalten in:
Brain : a journal of neurology
| 2024
von
Husain, R.
|
Jiao, X.
|
Hennings, J.
| +37
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5
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
enthalten in:
American journal of human genetics
| 2024
von
Paul, M.
|
Michener, S.
|
Pan, H.
| +60
ErratumFor: Am J Hum Genet. 2024 Jan 4;111(1):96-118. - PMID 38181735
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6
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
enthalten in:
Brain : a journal of neurology
| 2024
von
Maroofian, R.
|
Sarraf, P.
|
O'Brien, T.
| +29
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7
Mono and biallelic variants in
HCN2
cause severe neurodevelopmental disorders
enthalten in:
bioRxiv.org
| 2024
von
Houdayer, C.
|
Phillips, A.
|
Chabbert, M.
| +50
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8
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Houdayer, C.
|
Phillips, A.
|
Chabbert, M.
| +50
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9
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
enthalten in:
Nature communications
| 2024
von
Chelban, V.
|
Aksnes, H.
|
Maroofian, R.
| +59
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10
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
enthalten in:
ResearchSquare.com
| 2024
von
Koparir, A.
|
Lekszas, C.
|
Keseroglu, K.
| +14
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