Roser Pons, Abbie Collins, Michael Rotstein, Kristin Engelstad, Darryl C De Vivo. Mov Disord 2010
Times Cited: 95
Times Cited: 95
Times Cited
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
53
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.
D C De Vivo, R R Trifiletti, R I Jacobson, G M Ronen, R A Behmand, S I Harik. N Engl J Med 1991
D C De Vivo, R R Trifiletti, R I Jacobson, G M Ronen, R A Behmand, S I Harik. N Engl J Med 1991
50
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Yvonne G Weber, Alexander Storch, Thomas V Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A Schneider, Stephan M Huber,[...]. J Clin Invest 2008
Yvonne G Weber, Alexander Storch, Thomas V Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A Schneider, Stephan M Huber,[...]. J Clin Invest 2008
36
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V Wuttke, Yvonne Weber, Holger Lerche,[...]. Brain 2008
34
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Dong Wang, Juan M Pascual, Hong Yang, Kristin Engelstad, Sarah Jhung, Ruo Peng Sun, Darryl C De Vivo. Ann Neurol 2005
Dong Wang, Juan M Pascual, Hong Yang, Kristin Engelstad, Sarah Jhung, Ruo Peng Sun, Darryl C De Vivo. Ann Neurol 2005
30
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Susanne A Schneider, Coro Paisan-Ruiz, Ines Garcia-Gorostiaga, Niall P Quinn, Yvonne G Weber, Holger Lerche, John Hardy, Kailash P Bhatia. Mov Disord 2009
Susanne A Schneider, Coro Paisan-Ruiz, Ines Garcia-Gorostiaga, Niall P Quinn, Yvonne G Weber, Holger Lerche, John Hardy, Kailash P Bhatia. Mov Disord 2009
29
Glut1 deficiency syndrome and erythrocyte glucose uptake assay.
Hong Yang, Dong Wang, Kristin Engelstad, Leslie Bagay, Ying Wei, Michael Rotstein, Vimla Aggarwal, Brynn Levy, Lijiang Ma, Wendy K Chung,[...]. Ann Neurol 2011
Hong Yang, Dong Wang, Kristin Engelstad, Leslie Bagay, Ying Wei, Michael Rotstein, Vimla Aggarwal, Brynn Levy, Lijiang Ma, Wendy K Chung,[...]. Ann Neurol 2011
38
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Toni S Pearson, Cigdem Akman, Veronica J Hinton, Kristin Engelstad, Darryl C De Vivo. Curr Neurol Neurosci Rep 2013
Toni S Pearson, Cigdem Akman, Veronica J Hinton, Kristin Engelstad, Darryl C De Vivo. Curr Neurol Neurosci Rep 2013
22
Long-term clinical course of Glut1 deficiency syndrome.
Aliza S Alter, Kristin Engelstad, Veronica J Hinton, Jacqueline Montes, Toni S Pearson, Cigdem I Akman, Darryl C De Vivo. J Child Neurol 2015
Aliza S Alter, Kristin Engelstad, Veronica J Hinton, Jacqueline Montes, Toni S Pearson, Cigdem I Akman, Darryl C De Vivo. J Child Neurol 2015
40
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
G Seidner, M G Alvarez, J I Yeh, K R O'Driscoll, J Klepper, T S Stump, D Wang, N B Spinner, M J Birnbaum, D C De Vivo. Nat Genet 1998
G Seidner, M G Alvarez, J I Yeh, K R O'Driscoll, J Klepper, T S Stump, D Wang, N B Spinner, M J Birnbaum, D C De Vivo. Nat Genet 1998
18
Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes.
Amanda W Pong, Brianna R Geary, Kris M Engelstad, Ashwini Natarajan, Hong Yang, Darryl C De Vivo. Epilepsia 2012
Amanda W Pong, Brianna R Geary, Kris M Engelstad, Ashwini Natarajan, Hong Yang, Darryl C De Vivo. Epilepsia 2012
21
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
Mathieu Anheim, Elisabeth Maillart, Sandrine Vuillaumier-Barrot, Constance Flamand-Rouvière, Fanny Pineau, Claire Ewenczyk, Florence Riant, Emmanuelle Apartis, Emmanuel Roze. J Neurol 2011
Mathieu Anheim, Elisabeth Maillart, Sandrine Vuillaumier-Barrot, Constance Flamand-Rouvière, Fanny Pineau, Claire Ewenczyk, Florence Riant, Emmanuelle Apartis, Emmanuel Roze. J Neurol 2011
54
Paroxysmal movement disorders in GLUT1 deficiency syndrome.
G Zorzi, B Castellotti, F Zibordi, C Gellera, N Nardocci. Neurology 2008
G Zorzi, B Castellotti, F Zibordi, C Gellera, N Nardocci. Neurology 2008
34
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
Y G Weber, C Kamm, A Suls, J Kempfle, K Kotschet, R Schüle, T V Wuttke, S Maljevic, J Liebrich, T Gasser,[...]. Neurology 2011
Y G Weber, C Kamm, A Suls, J Kempfle, K Kotschet, R Schüle, T V Wuttke, S Maljevic, J Liebrich, T Gasser,[...]. Neurology 2011
29
Glut1 deficiency: inheritance pattern determined by haploinsufficiency.
Michael Rotstein, Kristin Engelstad, Hong Yang, Dong Wang, Brynn Levy, Wendy K Chung, Darryl C De Vivo. Ann Neurol 2010
Michael Rotstein, Kristin Engelstad, Hong Yang, Dong Wang, Brynn Levy, Wendy K Chung, Darryl C De Vivo. Ann Neurol 2010
27
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Arvid Suls, Saul A Mullen, Yvonne G Weber, Kristien Verhaert, Berten Ceulemans, Renzo Guerrini, Thomas V Wuttke, Alberto Salvo-Vargas, Liesbet Deprez, Lieve R F Claes,[...]. Ann Neurol 2009
Arvid Suls, Saul A Mullen, Yvonne G Weber, Kristien Verhaert, Berten Ceulemans, Renzo Guerrini, Thomas V Wuttke, Alberto Salvo-Vargas, Liesbet Deprez, Lieve R F Claes,[...]. Ann Neurol 2009
14
Glut1 deficiency and alternating hemiplegia of childhood.
M Rotstein, J Doran, H Yang, P M Ullner, K Engelstad, D C De Vivo. Neurology 2009
M Rotstein, J Doran, H Yang, P M Ullner, K Engelstad, D C De Vivo. Neurology 2009
35
GLUT1 deficiency syndrome into adulthood: a follow-up study.
W G Leen, M Taher, M M Verbeek, E J Kamsteeg, B P van de Warrenburg, M A Willemsen. J Neurol 2014
W G Leen, M Taher, M M Verbeek, E J Kamsteeg, B P van de Warrenburg, M A Willemsen. J Neurol 2014
30
GLUT1 deficiency syndrome--2007 update.
Joerg Klepper, Baerbel Leiendecker. Dev Med Child Neurol 2007
Joerg Klepper, Baerbel Leiendecker. Dev Med Child Neurol 2007
13
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
J Klepper, H Scheffer, B Leiendecker, E Gertsen, S Binder, M Leferink, C Hertzberg, A Näke, T Voit, M A Willemsen. Neuropediatrics 2005
J Klepper, H Scheffer, B Leiendecker, E Gertsen, S Binder, M Leferink, C Hertzberg, A Näke, T Voit, M A Willemsen. Neuropediatrics 2005
13
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
S A Mullen, A Suls, P De Jonghe, S F Berkovic, I E Scheffer. Neurology 2010
S A Mullen, A Suls, P De Jonghe, S F Berkovic, I E Scheffer. Neurology 2010
12
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
Jennifer R L Friedman, Elizabeth A Thiele, Dong Wang, Kara B Levine, Erin K Cloherty, Heidi H Pfeifer, Darryl C De Vivo, Anthony Carruthers, Marvin R Natowicz. Mov Disord 2006
Jennifer R L Friedman, Elizabeth A Thiele, Dong Wang, Kara B Levine, Erin K Cloherty, Heidi H Pfeifer, Darryl C De Vivo, Anthony Carruthers, Marvin R Natowicz. Mov Disord 2006
20
Glucose transporter 1 deficiency syndrome and other glycolytic defects.
Darryl C De Vivo, Linda Leary, Dong Wang. J Child Neurol 2002
Darryl C De Vivo, Linda Leary, Dong Wang. J Child Neurol 2002
16
Autosomal recessive inheritance of GLUT1 deficiency syndrome.
J Klepper, H Scheffer, M F Elsaid, E-J Kamsteeg, M Leferink, T Ben-Omran. Neuropediatrics 2009
J Klepper, H Scheffer, M F Elsaid, E-J Kamsteeg, M Leferink, T Ben-Omran. Neuropediatrics 2009
33
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
K Brockmann, D Wang, C G Korenke, A von Moers, Y Y Ho, J M Pascual, K Kuang, H Yang, L Ma, P Kranz-Eble,[...]. Ann Neurol 2001
K Brockmann, D Wang, C G Korenke, A von Moers, Y Y Ho, J M Pascual, K Kuang, H Yang, L Ma, P Kranz-Eble,[...]. Ann Neurol 2001
10
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
10
Imaging the metabolic footprint of Glut1 deficiency on the brain.
Juan M Pascual, Ronald L Van Heertum, Dong Wang, Kristin Engelstad, Darryl C De Vivo. Ann Neurol 2002
Juan M Pascual, Ronald L Van Heertum, Dong Wang, Kristin Engelstad, Darryl C De Vivo. Ann Neurol 2002
10
Glut1 deficiency syndrome and novel ketogenic diets.
Joerg Klepper, Baerbel Leiendecker. J Child Neurol 2013
Joerg Klepper, Baerbel Leiendecker. J Child Neurol 2013
25
GLUT1 deficiency syndrome 2013: current state of the art.
Valentina De Giorgis, Pierangelo Veggiotti. Seizure 2013
Valentina De Giorgis, Pierangelo Veggiotti. Seizure 2013
10
GLUT1 deficiency syndrome: an update.
D Gras, E Roze, S Caillet, A Méneret, D Doummar, T Billette de Villemeur, M Vidailhet, F Mochel. Rev Neurol (Paris) 2014
D Gras, E Roze, S Caillet, A Méneret, D Doummar, T Billette de Villemeur, M Vidailhet, F Mochel. Rev Neurol (Paris) 2014
23
Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.
David J Coman, K G Sinclair, C J Burke, D B Appleton, J T Pelekanos, C M O'Neil, G B Wallace, F G Bowling, D Wang, D C De Vivo,[...]. J Paediatr Child Health 2006
David J Coman, K G Sinclair, C J Burke, D B Appleton, J T Pelekanos, C M O'Neil, G B Wallace, F G Bowling, D Wang, D C De Vivo,[...]. J Paediatr Child Health 2006
29
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.
Anette Ramm-Pettersen, Karl O Nakken, Inger M Skogseid, Hans Randby, Erik B Skei, Laurence A Bindoff, Kaja K Selmer. Dev Med Child Neurol 2013
Anette Ramm-Pettersen, Karl O Nakken, Inger M Skogseid, Hans Randby, Erik B Skei, Laurence A Bindoff, Kaja K Selmer. Dev Med Child Neurol 2013
21
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
Roberto Erro, Una-Marie Sheerin, Kailash P Bhatia. Mov Disord 2014
9
From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
Marie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Nathalie Boddaert, Anna Kaminska, Karine Lascelles, Pascale de Lonlay, Claude Cances, Vincent des Portes, Agathe Roubertie,[...]. Eur J Med Genet 2015
Marie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Nathalie Boddaert, Anna Kaminska, Karine Lascelles, Pascale de Lonlay, Claude Cances, Vincent des Portes, Agathe Roubertie,[...]. Eur J Med Genet 2015
29
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
Fanny Mochel, Elodie Hainque, Domitille Gras, Isaac M Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabregue, Daisy Rinaldi,[...]. J Neurol Neurosurg Psychiatry 2016
16
Paroxysmal eye-head movements in Glut1 deficiency syndrome.
Toni S Pearson, Roser Pons, Kristin Engelstad, Steven A Kane, Michael E Goldberg, Darryl C De Vivo. Neurology 2017
Toni S Pearson, Roser Pons, Kristin Engelstad, Steven A Kane, Michael E Goldberg, Darryl C De Vivo. Neurology 2017
42
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
D Wang, P Kranz-Eble, D C De Vivo. Hum Mutat 2000
D Wang, P Kranz-Eble, D C De Vivo. Hum Mutat 2000
8
Paroxysmal dyskinesias: clinical features and classification.
M Demirkiran, J Jankovic. Ann Neurol 1995
M Demirkiran, J Jankovic. Ann Neurol 1995
8
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
Saul A Mullen, Carla Marini, Arvid Suls, Davide Mei, Elvio Della Giustina, Daniela Buti, Todor Arsov, John Damiano, Kate Lawrence, Peter De Jonghe,[...]. Arch Neurol 2011
Saul A Mullen, Carla Marini, Arvid Suls, Davide Mei, Elvio Della Giustina, Daniela Buti, Todor Arsov, John Damiano, Kate Lawrence, Peter De Jonghe,[...]. Arch Neurol 2011
9
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome.
Yasushi Ito, Hirokazu Oguni, Susumu Ito, Miyako Oguni, Makiko Osawa. Dev Med Child Neurol 2011
Yasushi Ito, Hirokazu Oguni, Susumu Ito, Miyako Oguni, Makiko Osawa. Dev Med Child Neurol 2011
14
Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.
Linda D Leary, Dong Wang, Douglas R Nordli, Kristin Engelstad, Darryl C De Vivo. Epilepsia 2003
Linda D Leary, Dong Wang, Douglas R Nordli, Kristin Engelstad, Darryl C De Vivo. Epilepsia 2003
9
Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.
Wilhelmina G Leen, Leena Mewasingh, Marcel M Verbeek, Erik-Jan Kamsteeg, Bart P van de Warrenburg, Michel A Willemsen. Mov Disord 2013
Wilhelmina G Leen, Leena Mewasingh, Marcel M Verbeek, Erik-Jan Kamsteeg, Bart P van de Warrenburg, Michel A Willemsen. Mov Disord 2013
25
Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.
Wilhelmina G Leen, Ron A Wevers, Erik-Jan Kamsteeg, Hans Scheffer, Marcel M Verbeek, Michèl A Willemsen. JAMA Neurol 2013
Wilhelmina G Leen, Ron A Wevers, Erik-Jan Kamsteeg, Hans Scheffer, Marcel M Verbeek, Michèl A Willemsen. JAMA Neurol 2013
12
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
Valentina De Giorgis, Federica Teutonico, Cristina Cereda, Umberto Balottin, Marika Bianchi, Lucio Giordano, Sara Olivotto, Francesca Ragona, Anna Tagliabue, Giovanna Zorzi,[...]. Seizure 2015
Valentina De Giorgis, Federica Teutonico, Cristina Cereda, Umberto Balottin, Marika Bianchi, Lucio Giordano, Sara Olivotto, Francesca Ragona, Anna Tagliabue, Giovanna Zorzi,[...]. Seizure 2015
36
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
Alice R Gardiner, Fatima Jaffer, Russell C Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann,[...]. Brain 2015
10
Autosomal dominant transmission of GLUT1 deficiency.
J Klepper, M Willemsen, A Verrips, E Guertsen, R Herrmann, C Kutzick, A Flörcken, T Voit. Hum Mol Genet 2001
J Klepper, M Willemsen, A Verrips, E Guertsen, R Herrmann, C Kutzick, A Flörcken, T Voit. Hum Mol Genet 2001
9
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Christine Barnerias, Jean-Marie Saudubray, Guy Touati, Pascale De Lonlay, Olivier Dulac, Gerard Ponsot, Cécile Marsac, Michèle Brivet, Isabelle Desguerre. Dev Med Child Neurol 2010
Christine Barnerias, Jean-Marie Saudubray, Guy Touati, Pascale De Lonlay, Olivier Dulac, Gerard Ponsot, Cécile Marsac, Michèle Brivet, Isabelle Desguerre. Dev Med Child Neurol 2010
7
The ketogenic diet: one decade later.
John M Freeman, Eric H Kossoff, Adam L Hartman. Pediatrics 2007
John M Freeman, Eric H Kossoff, Adam L Hartman. Pediatrics 2007
7
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.