Results
|
1361.
|
|
|
1362.
|
|
|
1363.
|
|
|
1364.
|
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy. [electronic resource] by
- Maffezzini, Camilla
- Laine, Isabelle
- Dallabona, Cristina
- Clemente, Paula
- Calvo-Garrido, Javier
- Wibom, Rolf
- Naess, Karin
- Barbaro, Michela
- Falk, Anna
- Donnini, Claudia
- Freyer, Christoph
- Wredenberg, Anna
- Wedell, Anna
Producer: 20200623
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
|
|
1365.
|
Urinary ketone body loss leads to degeneration of brain white matter in elderly SLC5A8-deficient mice. [electronic resource] by
- Suissa, Laurent
- Flachon, Virginie
- Guigonis, Jean-Marie
- Olivieri, Charles-Vivien
- Burel-Vandenbos, Fanny
- Guglielmi, Julien
- Ambrosetti, Damien
- Gérard, Matthieu
- Franken, Philippe
- Darcourt, Jacques
- Pellerin, Luc
- Pourcher, Thierry
- Lindenthal, Sabine
Producer: 20210301
In:
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism vol. 40
Availability: No items available.
|
|
1366.
|
|
|
1367.
|
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts. [electronic resource] by
- Badrock, Andrew P
- Uggenti, Carolina
- Wacheul, Ludivine
- Crilly, Siobhan
- Jenkinson, Emma M
- Rice, Gillian I
- Kasher, Paul R
- Lafontaine, Denis L J
- Crow, Yanick J
- O'Keefe, Raymond T
Producer: 20200727
In:
American journal of human genetics vol. 106
Availability: No items available.
|
|
1368.
|
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. [electronic resource] by
- Wu, Ye
- Pan, Yanxia
- Du, Li
- Wang, Jingmin
- Gu, Qiang
- Gao, Zhijie
- Li, Jie
- Leng, Xuerong
- Qin, Jiong
- Wu, Xiru
- Jiang, Yuwu
Producer: 20100203
In:
Journal of human genetics vol. 54
Availability: No items available.
|
|
1369.
|
|
|
1370.
|
White matter lesion progression in LADIS: frequency, clinical effects, and sample size calculations. [electronic resource] by
- Schmidt, Reinhold
- Berghold, Andrea
- Jokinen, Hanna
- Gouw, Alida A
- van der Flier, Wiesje M
- Barkhof, Frederik
- Scheltens, Philip
- Petrovic, Katja
- Madureira, Sofia
- Verdelho, Ana
- Ferro, Jose M
- Waldemar, Gunhild
- Wallin, Anders
- Wahlund, Lars-Olof
- Poggesi, Anna
- Pantoni, Leonardo
- Inzitari, Domenico
- Fazekas, Franz
- Erkinjuntti, Timo
Producer: 20130117
In:
Stroke vol. 43
Availability: No items available.
|
|
1371.
|
|
|
1372.
|
|
|
1373.
|
|
|
1374.
|
|
|
1375.
|
|
|
1376.
|
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. [electronic resource] by
- Dutta, Debdeep
- Briere, Lauren C
- Kanca, Oguz
- Marcogliese, Paul C
- Walker, Melissa A
- High, Frances A
- Vanderver, Adeline
- Krier, Joel
- Carmichael, Nikkola
- Callahan, Christine
- Taft, Ryan J
- Simons, Cas
- Helman, Guy
- Network, Undiagnosed Diseases
- Wangler, Michael F
- Yamamoto, Shinya
- Sweetser, David A
- Bellen, Hugo J
Producer: 20210812
In:
Human molecular genetics vol. 29
Availability: No items available.
|
|
1377.
|
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy. [electronic resource] by
- Pippucci, Tommaso
- Maresca, Alessandra
- Magini, Pamela
- Cenacchi, Giovanna
- Donadio, Vincenzo
- Palombo, Flavia
- Papa, Valentina
- Incensi, Alex
- Gasparre, Giuseppe
- Valentino, Maria Lucia
- Preziuso, Carmela
- Pisano, Annalinda
- Ragno, Michele
- Liguori, Rocco
- Giordano, Carla
- Tonon, Caterina
- Lodi, Raffaele
- Parmeggiani, Antonia
- Carelli, Valerio
- Seri, Marco
Producer: 20160225
In:
EMBO molecular medicine vol. 7
Availability: No items available.
|
|
1378.
|
Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. [electronic resource] by
- Bisserbe, A
- Tertian, G
- Buffet, C
- Turhan, A
- Lambotte, O
- Nasser, G
- Alvin, P
- Tardieu, M
- Riant, F
- Bergametti, F
- Tournier-Lasserve, E
- Denier, C
Producer: 20160203
In:
Revue neurologique vol. 171
Availability: No items available.
|
|
1379.
|
|
|
1380.
|
Leukoencephalopathy, cerebral calcifications and cysts: a family study. [electronic resource] by
- Karlinger, Kinga
- Tárnoki, Ádám Domonkos
- Tárnoki, Dávid László
- Polvi, Anne
- Lehesjoki, Anna-Elina
- Kelemen, Andrea
- Szegedi, László
- Turányi, Eszter
- Kamondi, Anita
- Szűcs, Anna
Producer: 20150615
In:
Journal of neurology vol. 261
Availability: No items available.
|