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SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. [electronic resource] by
- Perez, Yonatan
- Shorer, Zamir
- Liani-Leibson, Keren
- Chabosseau, Pauline
- Kadir, Rotem
- Volodarsky, Michael
- Halperin, Daniel
- Barber-Zucker, Shiran
- Shalev, Hanna
- Schreiber, Ruth
- Gradstein, Libe
- Gurevich, Evgenia
- Zarivach, Raz
- Rutter, Guy A
- Landau, Daniel
- Birk, Ohad S
Producer: 20170425
In:
Brain : a journal of neurology vol. 140
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1124.
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1125.
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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [electronic resource] by
- Evgrafov, Oleg V
- Mersiyanova, Irena
- Irobi, Joy
- Van Den Bosch, Ludo
- Dierick, Ines
- Leung, Conrad L
- Schagina, Olga
- Verpoorten, Nathalie
- Van Impe, Katrien
- Fedotov, Valeriy
- Dadali, Elena
- Auer-Grumbach, Michaela
- Windpassinger, Christian
- Wagner, Klaus
- Mitrovic, Zoran
- Hilton-Jones, David
- Talbot, Kevin
- Martin, Jean-Jacques
- Vasserman, Natalia
- Tverskaya, Svetlana
- Polyakov, Alexander
- Liem, Ronald K H
- Gettemans, Jan
- Robberecht, Wim
- De Jonghe, Peter
- Timmerman, Vincent
Producer: 20040701
In:
Nature genetics vol. 36
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1126.
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Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. [electronic resource] by
- Dierick, Ines
- Baets, Jonathan
- Irobi, Joy
- Jacobs, An
- De Vriendt, Els
- Deconinck, Tine
- Merlini, Luciano
- Van den Bergh, Peter
- Rasic, Vedrana Milic
- Robberecht, Wim
- Fischer, Dirk
- Morales, Raul Juntas
- Mitrovic, Zoran
- Seeman, Pavel
- Mazanec, Radim
- Kochanski, Andrzej
- Jordanova, Albena
- Auer-Grumbach, Michaela
- Helderman-van den Enden, A T J M
- Wokke, John H J
- Nelis, Eva
- De Jonghe, Peter
- Timmerman, Vincent
Producer: 20080616
In:
Brain : a journal of neurology vol. 131
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1127.
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1128.
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HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. [electronic resource] by
- Gess, Burkhard
- Auer-Grumbach, Michaela
- Schirmacher, Anja
- Strom, Tim
- Zitzelsberger, Manuela
- Rudnik-Schöneborn, Sabine
- Röhr, Dominik
- Halfter, Hartmut
- Young, Peter
- Senderek, Jan
Producer: 20141230
In:
Neurology vol. 83
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1129.
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1130.
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1131.
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1132.
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1133.
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1134.
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Abnormal junctions and permeability of myelin in PMP22-deficient nerves. [electronic resource] by
- Guo, Jiasong
- Wang, Leiming
- Zhang, Yang
- Wu, Jiawen
- Arpag, Sezgi
- Hu, Bo
- Imhof, Beat A
- Tian, Xinxia
- Carter, Bruce D
- Suter, Ueli
- Li, Jun
Producer: 20140505
In:
Annals of neurology vol. 75
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1135.
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1136.
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1137.
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1138.
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Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. [electronic resource] by
- Cortese, A
- Laurà, M
- Casali, C
- Nishino, I
- Hayashi, Y K
- Magri, S
- Taroni, F
- Stuani, C
- Saveri, P
- Moggio, M
- Ripolone, M
- Prelle, A
- Pisciotta, C
- Sagnelli, A
- Pichiecchio, A
- Reilly, M M
- Buratti, E
- Pareyson, D
Producer: 20181119
In:
European journal of neurology vol. 25
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1139.
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A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis. [electronic resource] by
- Shiomi, K
- Nakazato, M
- Matsukura, S
- Ohnishi, A
- Hatanaka, H
- Tsuji, S
- Murai, Y
- Kojima, M
- Kangawa, K
- Matsuo, H
Producer: 19930915
In:
Biochemical and biophysical research communications vol. 194
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1140.
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