Search Results - "Laari, Anni"

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome by Nevanlinna, Viivi, Konovalova, Svetlana, Ceulemans, Berten, Muona, Mikko, Laari, Anni, Hilander, Taru, Gorski, Katarin, Valanne, Leena, Anttonen, Anna-Kaisa, Tyynismaa, Henna, Courage, Carolina, Lehesjoki, Anna-Elina

“…Pontocerebellar hypoplasia type 6 (PCH6) is a rare infantile-onset progressive encephalopathy caused by biallelic mutations in RARS2 that encodes the…”
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy by Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsu, Masaaki

“…The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily conserved ubiquitin-like modification system whose function and link to…”
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Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate by Anttonen, Anna-Kaisa, Hilander, Taru, Linnankivi, Tarja, Isohanni, Pirjo, French, Rachel L, Liu, Yuchen, Simonović, Miljan, Söll, Dieter, Somer, Mirja, Muth-Pawlak, Dorota, Corthals, Garry L, Laari, Anni, Ylikallio, Emil, Lähde, Marja, Valanne, Leena, Lönnqvist, Tuula, Pihko, Helena, Paetau, Anders, Lehesjoki, Anna-Elina, Suomalainen, Anu, Tyynismaa, Henna

“…OBJECTIVE:We aimed to decipher the molecular genetic basis of disease in a cohort of children with a uniform clinical presentation of neonatal irritability,…”
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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss by Anttonen, Anna-Kaisa, Laari, Anni, Kousi, Maria, Yang, Yawei J, Jääskeläinen, Tiina, Somer, Mirja, Siintola, Eija, Jakkula, Eveliina, Muona, Mikko, Tegelberg, Saara, Lönnqvist, Tuula, Pihko, Helena, Valanne, Leena, Paetau, Anders, Lun, Melody P, Hästbacka, Johanna, Kopra, Outi, Joensuu, Tarja, Katsanis, Nicholas, Lehtinen, Maria K, Palvimo, Jorma J, Lehesjoki, Anna-Elina

“…Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onset, severe autosomal recessive…”
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Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy by Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina

“…To identify the molecular genetic basis of a syndrome characterized by rapidly progressing cerebral atrophy, intractable seizures, and intellectual disability…”
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