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ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons
by
Oliveira, D.
,
Assoni, A.F.
,
Alves, L.M.
,
Sakugawa, A.
,
Melo, U.S.
,
Teles e Silva, A.L.
,
Sertie, A.L.
,
Caires, L.C.
,
Goulart, E.
,
Ghirotto, B.
,
Carvalho, V.M.
,
Ferrari, M.R.
,
Zatz, M.
Published in
Neurobiology of disease
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A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability
by
Figueiredo, T
,
Melo, U S
,
Pessoa, A L S
,
Nobrega, P R
,
Kitajima, J P
,
Rusch, H
,
Vaz, F
,
Lucato, L T
,
Zatz, M
,
Kok, F
,
Santos, S
Published in
Molecular psychiatry
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Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
by
Melo, U.S.
,
Freua, F.
,
Lynch, D.S.
,
Ripa, B.D.
,
Tenorio, R.B.
,
Saute, J.A.M.
,
de Souza Leite, F.
,
Kitajima, J.
,
Houlden, H.
,
Zatz, M.
,
Kok, F.
Published in
Clinical genetics
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