Phenotypic and imaging spectrum associated with WDR45

Laura A. Adang; Amy Pizzino; Alka Malhotra; Holly Dubbs; Catherine Williams; Omar Sherbini; Anna-Kaisa Anttonen; Gaetan Lesca; Tarja Linnankivi; Chloé Laurencin; Matthieu Milh; Charles Perrine; Christian P. Schaaf; Anne-Lise Poulat; Dorothee Ville; Tanner Hagelstrom; Denise L. Perry; Ryan J. Taft; Amy Goldstein; Arastoo Vossough; Ingo Helbig; Adeline Vanderver

doi:10.1016/j.pediatrneurol.2020.03.005

Phenotypic and imaging spectrum associated with WDR45

Laura A. Adang, Amy Pizzino, Alka Malhotra, Holly Dubbs, Catherine Williams, Omar Sherbini, Anna-Kaisa Anttonen, Gaetan Lesca, Tarja Linnankivi, Chloé Laurencin, Matthieu Milh, Charles Perrine, Christian P. Schaaf, Anne-Lise Poulat, Dorothee Ville, Tanner Hagelstrom, Denise L. Perry, Ryan J. Taft, Amy Goldstein, Arastoo VossoughIngo Helbig, Adeline Vanderver

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	Pediatric Neurology
Vuosikerta	109
Sivut	56-62
Sivumäärä	7
ISSN	0887-8994
DOI - pysyväislinkit	https://doi.org/10.1016/j.pediatrneurol.2020.03.005
Tila	Julkaistu - elok. 2020
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3124 Neurologia ja psykiatria
3123 Naisten- ja lastentaudit
3111 Biolääketieteet

Pääsy asiakirjaan

10.1016/j.pediatrneurol.2020.03.005

1-s2.0-S0887899420300849-mainHyväksytty kirjoittajan käsikirjoitus, 19,5 MBLisenssi: CC BY-NC-ND

Siteeraa tätä

Adang, L. A., Pizzino, A., Malhotra, A., Dubbs, H., Williams, C., Sherbini, O., Anttonen, A.-K., Lesca, G., Linnankivi, T., Laurencin, C., Milh, M., Perrine, C., Schaaf, C. P., Poulat, A.-L., Ville, D., Hagelstrom, T., Perry, D. L., Taft, R. J., Goldstein, A., ... Vanderver, A. (2020). Phenotypic and imaging spectrum associated with WDR45. Pediatric Neurology, 109, 56-62. https://doi.org/10.1016/j.pediatrneurol.2020.03.005

@article{1f3346b6e15d4e109225edbe793edd94,

title = "Phenotypic and imaging spectrum associated with WDR45",

keywords = "3124 Neurology and psychiatry, Hypomyelination, Epileptic encephalopathy, WDR45, Developmental delay, PROTEIN-ASSOCIATED NEURODEGENERATION, EXOME SEQUENCING REVEALS, MUTATIONS, CHILDHOOD, FEMALE, 3123 Gynaecology and paediatrics, 3111 Biomedicine",

author = "Adang, \{Laura A.\} and Amy Pizzino and Alka Malhotra and Holly Dubbs and Catherine Williams and Omar Sherbini and Anna-Kaisa Anttonen and Gaetan Lesca and Tarja Linnankivi and Chlo{\'e} Laurencin and Matthieu Milh and Charles Perrine and Schaaf, \{Christian P.\} and Anne-Lise Poulat and Dorothee Ville and Tanner Hagelstrom and Perry, \{Denise L.\} and Taft, \{Ryan J.\} and Amy Goldstein and Arastoo Vossough and Ingo Helbig and Adeline Vanderver",

year = "2020",

month = aug,

doi = "10.1016/j.pediatrneurol.2020.03.005",

language = "English",

volume = "109",

pages = "56--62",

journal = "Pediatric Neurology",

issn = "0887-8994",

publisher = "Elsevier Inc. ",

}

Adang, LA, Pizzino, A, Malhotra, A, Dubbs, H, Williams, C, Sherbini, O, Anttonen, A-K, Lesca, G, Linnankivi, T, Laurencin, C, Milh, M, Perrine, C, Schaaf, CP, Poulat, A-L, Ville, D, Hagelstrom, T, Perry, DL, Taft, RJ, Goldstein, A, Vossough, A, Helbig, I & Vanderver, A 2020, 'Phenotypic and imaging spectrum associated with WDR45', Pediatric Neurology, Vuosikerta 109, Sivut 56-62. https://doi.org/10.1016/j.pediatrneurol.2020.03.005

TY - JOUR

T1 - Phenotypic and imaging spectrum associated with WDR45

AU - Adang, Laura A.

AU - Pizzino, Amy

AU - Malhotra, Alka

AU - Dubbs, Holly

AU - Williams, Catherine

AU - Sherbini, Omar

AU - Anttonen, Anna-Kaisa

AU - Lesca, Gaetan

AU - Linnankivi, Tarja

AU - Laurencin, Chloé

AU - Milh, Matthieu

AU - Perrine, Charles

AU - Schaaf, Christian P.

AU - Poulat, Anne-Lise

AU - Ville, Dorothee

AU - Hagelstrom, Tanner

AU - Perry, Denise L.

AU - Taft, Ryan J.

AU - Goldstein, Amy

AU - Vossough, Arastoo

AU - Helbig, Ingo

AU - Vanderver, Adeline

PY - 2020/8

Y1 - 2020/8

KW - 3124 Neurology and psychiatry

KW - Hypomyelination

KW - Epileptic encephalopathy

KW - WDR45

KW - Developmental delay

KW - PROTEIN-ASSOCIATED NEURODEGENERATION

KW - EXOME SEQUENCING REVEALS

KW - MUTATIONS

KW - CHILDHOOD

KW - FEMALE

KW - 3123 Gynaecology and paediatrics

KW - 3111 Biomedicine

U2 - 10.1016/j.pediatrneurol.2020.03.005

DO - 10.1016/j.pediatrneurol.2020.03.005

M3 - Article

SN - 0887-8994

VL - 109

SP - 56

EP - 62

JO - Pediatric Neurology

JF - Pediatric Neurology

ER -