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The Clinical and Molecular Spectrum of GM1 Gangliosidosis. [electronic resource] by
- Arash-Kaps, Laila
- Komlosi, Katalin
- Seegräber, Marlene
- Diederich, Stefan
- Paschke, Eduard
- Amraoui, Yasmina
- Beblo, Skadi
- Dieckmann, Andrea
- Smitka, Martin
- Hennermann, Julia B
Producer: 20200518
In:
The Journal of pediatrics vol. 215
Availability: No items available.
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9.
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Sedative and anticonvulsant drugs suppress postnatal neurogenesis. [electronic resource] by
- Stefovska, Vanya G
- Uckermann, Ortrud
- Czuczwar, Miroslaw
- Smitka, Martin
- Czuczwar, Piotr
- Kis, Jacek
- Kaindl, Angela M
- Turski, Lechoslaw
- Turski, Waldemar A
- Ikonomidou, Chrysanthy
Producer: 20081224
In:
Annals of neurology vol. 64
Availability: No items available.
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10.
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Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. [electronic resource] by
- Sell, Katharina
- Storch, Katja
- Hahn, Gabriele
- Lee-Kirsch, Min Ae
- Ramantani, Georgia
- Jackson, Sandra
- Neilson, Derek
- von der Hagen, Maja
- Hehr, Ute
- Smitka, Martin
Producer: 20170117
In:
Brain & development vol. 38
Availability: No items available.
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11.
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Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene. [electronic resource] by
- Schmelzer, Lisa
- Smitka, Martin
- Wolf, Christine
- Lucas, Nadja
- Tüngler, Victoria
- Hahn, Gabriele
- Tzschach, Andreas
- Di Donato, Nataliya
- Lee-Kirsch, Min Ae
- von der Hagen, Maja
Producer: 20180702
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 22
Availability: No items available.
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12.
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Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. [electronic resource] by
- Alter, Svenja
- Hotz, Alrun
- Jahn, Arne
- Di Donato, Nataliya
- Schröck, Evelin
- Smitka, Martin
- von der Hagen, Maja
- Schallner, Jens
- Menschikowski, Mario
- Gillitzer, Claus
- Laass, Martin W
- Fischer, Judith
- Tzschach, Andreas
Producer: 20191029
In:
American journal of medical genetics. Part A vol. 176
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13.
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Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience. [electronic resource] by
- Schleede, Lena
- Bueter, Wolfgang
- Baumgartner-Sigl, Sara
- Opladen, Thomas
- Weigt-Usinger, Katharina
- Stephan, Susanne
- Smitka, Martin
- Leiz, Steffen
- Kaiser, Olaf
- Kraus, Verena
- van Baalen, Andreas
- Skopnik, Heino
- Hartmann, Hans
- Rostasy, Kevin
- Lücke, Thomas
- Schara, Ulrike
- Häusler, Martin
Producer: 20130726
In:
Journal of child neurology vol. 28
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14.
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Macrocerebellum: significance and pathogenic considerations. [electronic resource] by
- Poretti, Andrea
- Mall, Volker
- Smitka, Martin
- Grunt, Sebastian
- Risen, Sarah
- Toelle, Sandra P
- Benson, Jane E
- Yoshida, Shoko
- Jung, Nikolai H
- Tinschert, Sigrid
- Neuhann, Teresa M
- Rauch, Anita
- Steinlin, Maja
- Meoded, Avner
- Huisman, Thierry A G M
- Boltshauser, Eugen
Producer: 20130424
In:
Cerebellum (London, England) vol. 11
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15.
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Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. [electronic resource] by
- Hahn, Andreas
- Praetorius, Susanne
- Karabul, Nesrin
- Dießel, Johanna
- Schmidt, Dorle
- Motz, Reinald
- Haase, Claudia
- Baethmann, Martina
- Hennermann, Julia B
- Smitka, Martin
- Santer, René
- Muschol, Nicole
- Meyer, Ann
- Marquardt, Thorsten
- Huemer, Martina
- Thiels, Charlotte
- Rohrbach, Marianne
- Seyfullah, Gökce
- Mengel, Eugen
Producer: 20150327
In:
JIMD reports vol. 20
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16.
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Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. [electronic resource] by
- Yis, Uluc
- Uyanik, Gökhan
- Heck, Pinar Bambul
- Smitka, Martin
- Nobel, Hannes
- Ebinger, Friedrich
- Dirik, Eray
- Feng, Lucy
- Kurul, Semra H
- Brocke, Katja
- Unalp, Aycan
- Özer, Erdener
- Cakmakci, Handan
- Sewry, Caroline
- Cirak, Sebahattin
- Muntoni, Francesco
- Hehr, Ute
- Morris-Rosendahl, Deborah J
Producer: 20110421
In:
Neuromuscular disorders : NMD vol. 21
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17.
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ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. [electronic resource] by
- van Kuilenburg, André B P
- Dobritzsch, Doreen
- Meijer, Judith
- Krumpel, Michael
- Selim, Laila A
- Rashed, Mohamed S
- Assmann, Birgit
- Meinsma, Rutger
- Lohkamp, Bernhard
- Ito, Tetsuya
- Abeling, Nico G G M
- Saito, Kayoko
- Eto, Kaoru
- Smitka, Martin
- Engvall, Martin
- Zhang, Chunhua
- Xu, Wang
- Zoetekouw, Lida
- Hennekam, Raoul C M
Producer: 20121015
In:
Biochimica et biophysica acta vol. 1822
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18.
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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. [electronic resource] by
- Michot, Caroline
- Hubert, Laurence
- Brivet, Michèle
- De Meirleir, Linda
- Valayannopoulos, Vassili
- Müller-Felber, Wolfgang
- Venkateswaran, Ramesh
- Ogier, Hélène
- Desguerre, Isabelle
- Altuzarra, Cécilia
- Thompson, Elizabeth
- Smitka, Martin
- Huebner, Angela
- Husson, Marie
- Horvath, Rita
- Chinnery, Patrick
- Vaz, Frederic M
- Munnich, Arnold
- Elpeleg, Orly
- Delahodde, Agnès
- de Keyzer, Yves
- de Lonlay, Pascale
Producer: 20101004
In:
Human mutation vol. 31
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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. [electronic resource] by
- Nicolino, Marc
- Byrne, Barry
- Wraith, J Edmund
- Leslie, Nancy
- Mandel, Hanna
- Freyer, David R
- Arnold, Georgianne L
- Pivnick, Eniko K
- Ottinger, C J
- Robinson, Peter H
- Loo, John-Charles A
- Smitka, Martin
- Jardine, Philip
- Tatò, Luciano
- Chabrol, Brigitte
- McCandless, Shawn
- Kimura, Shigemi
- Mehta, L
- Bali, Deeksha
- Skrinar, Alison
- Morgan, Claire
- Rangachari, Lakshmi
- Corzo, Deya
- Kishnani, Priya S
Producer: 20090925
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 11
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20.
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Oligoclonal bands predict multiple sclerosis in children with optic neuritis. [electronic resource] by
- Heussinger, Nicole
- Kontopantelis, Evangelos
- Gburek-Augustat, Janina
- Jenke, Andreas
- Vollrath, Gesa
- Korinthenberg, Rudolf
- Hofstetter, Peter
- Meyer, Sascha
- Brecht, Isabel
- Kornek, Barbara
- Herkenrath, Peter
- Schimmel, Mareike
- Wenner, Kirsten
- Häusler, Martin
- Lutz, Soeren
- Karenfort, Michael
- Blaschek, Astrid
- Smitka, Martin
- Karch, Stephanie
- Piepkorn, Martin
- Rostasy, Kevin
- Lücke, Thomas
- Weber, Peter
- Trollmann, Regina
- Klepper, Jörg
- Häussler, Martin
- Hofmann, Regina
- Weissert, Robert
- Merkenschlager, Andreas
- Buttmann, Mathias
Producer: 20150803
In:
Annals of neurology vol. 77
Availability: No items available.
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