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Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals. [electronic resource] by
- Ramsay, Michèle
- Greenberg, Tarryn
- Lombard, Zane
- Labrum, Robyn
- Lubbe, Steven
- Aron, Shaun
- Marais, Anna-Susan
- Terry, Sharon
- Bercovitch, Lionel
- Viljoen, Denis
Producer: 20090721
In:
Journal of dermatological science vol. 54
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The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia. [electronic resource] by
- Yau, Wai Yan
- Raposo, Mafalda
- Bettencourt, Conceição
- Labrum, Robyn
- Vasconcelos, João
- Parkinson, Michael H
- Giunti, Paola
- Wood, Nicholas W
- Lima, Manuela
- Houlden, Henry
Producer: 20200727
In:
Brain : a journal of neurology vol. 143
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PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption. [electronic resource] by
- Nethisinghe, Suran
- Pigazzini, Maria Lucia
- Pemble, Sally
- Sweeney, Mary G
- Labrum, Robyn
- Manso, Katarina
- Moore, David
- Warner, Jon
- Davis, Mary B
- Giunti, Paola
Publication details: Frontiers in cellular neuroscience 2018
In:
Frontiers in cellular neuroscience vol. 12
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8.
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Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. [electronic resource] by
- Rajakulendran, Sanjeev
- Graves, Tracey D
- Labrum, Robyn W
- Kotzadimitriou, Dimitrios
- Eunson, Louise
- Davis, Mary B
- Davies, Rosalyn
- Wood, Nicholas W
- Kullmann, Dimitri M
- Hanna, Michael G
- Schorge, Stephanie
Producer: 20100827
In:
The Journal of physiology vol. 588
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In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. [electronic resource] by
- Tomlinson, Susan E
- Tan, S Veronica
- Burke, David
- Labrum, Robyn W
- Haworth, Andrea
- Gibbons, Vaneesha S
- Sweeney, Mary G
- Griggs, Robert C
- Kullmann, Dimitri M
- Bostock, Hugh
- Hanna, Michael G
Producer: 20160630
In:
Brain : a journal of neurology vol. 139
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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. [electronic resource] by
- Tomlinson, Susan Elizabeth
- Rajakulendran, Sanjeev
- Tan, Stella Veronica
- Graves, Tracey Dawn
- Bamiou, Doris-Eva
- Labrum, Robyn W
- Burke, David
- Sue, Carolyn M
- Giunti, Paola
- Schorge, Stephanie
- Kullmann, Dimitri M
- Hanna, Michael G
Producer: 20131108
In:
Journal of neurology, neurosurgery, and psychiatry vol. 84
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The clinical and genetic heterogeneity of paroxysmal dyskinesias. [electronic resource] by
- Gardiner, Alice R
- Jaffer, Fatima
- Dale, Russell C
- Labrum, Robyn
- Erro, Roberto
- Meyer, Esther
- Xiromerisiou, Georgia
- Stamelou, Maria
- Walker, Matthew
- Kullmann, Dimitri
- Warner, Tom
- Jarman, Paul
- Hanna, Mike
- Kurian, Manju A
- Bhatia, Kailash P
- Houlden, Henry
Producer: 20160504
In:
Brain : a journal of neurology vol. 138
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12.
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Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. [electronic resource] by
- Galea, Charles A
- Huq, Aamira
- Lockhart, Paul J
- Tai, Geneieve
- Corben, Louise A
- Yiu, Eppie M
- Gurrin, Lyle C
- Lynch, David R
- Gelbard, Sarah
- Durr, Alexandra
- Pousset, Francoise
- Parkinson, Michael
- Labrum, Robyn
- Giunti, Paola
- Perlman, Susan L
- Delatycki, Martin B
- Evans-Galea, Marguerite V
Producer: 20160719
In:
Annals of neurology vol. 79
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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. [electronic resource] by
- Nethisinghe, Suran
- Lim, Wei N
- Ging, Heather
- Zeitlberger, Anna
- Abeti, Rosella
- Pemble, Sally
- Sweeney, Mary G
- Labrum, Robyn
- Cervera, Charisse
- Houlden, Henry
- Rosser, Elisabeth
- Limousin, Patricia
- Kennedy, Angus
- Lunn, Michael P
- Bhatia, Kailash P
- Wood, Nicholas W
- Hardy, John
- Polke, James M
- Veneziano, Liana
- Brusco, Alfredo
- Davis, Mary B
- Giunti, Paola
Publication details: Frontiers in cellular neuroscience 2018
In:
Frontiers in cellular neuroscience vol. 12
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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology. [electronic resource] by
- Catarino, Claudia B
- Liu, Joan Y W
- Liagkouras, Ioannis
- Gibbons, Vaneesha S
- Labrum, Robyn W
- Ellis, Rachael
- Woodward, Cathy
- Davis, Mary B
- Smith, Shelagh J
- Cross, J Helen
- Appleton, Richard E
- Yendle, Simone C
- McMahon, Jacinta M
- Bellows, Susannah T
- Jacques, Thomas S
- Zuberi, Sameer M
- Koepp, Matthias J
- Martinian, Lillian
- Scheffer, Ingrid E
- Thom, Maria
- Sisodiya, Sanjay M
Producer: 20111215
In:
Brain : a journal of neurology vol. 134
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Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study. [electronic resource] by
- Diallo, Alhassane
- Jacobi, Heike
- Cook, Arron
- Labrum, Robyn
- Durr, Alexandra
- Brice, Alexis
- Charles, Perrine
- Marelli, Cecilia
- Mariotti, Caterina
- Nanetti, Lorenzo
- Panzeri, Marta
- Rakowicz, Maria
- Sobanska, Anna
- Sulek, Anna
- Schmitz-Hübsch, Tanja
- Schöls, Ludger
- Hengel, Holger
- Melegh, Bela
- Filla, Alessandro
- Antenora, Antonella
- Infante, Jon
- Berciano, José
- van de Warrenburg, Bart P
- Timmann, Dagmar
- Boesch, Sylvia
- Pandolfo, Massimo
- Schulz, Jörg B
- Bauer, Peter
- Giunti, Paola
- Kang, Jun-Suk
- Klockgether, Thomas
- Tezenas du Montcel, Sophie
Producer: 20190227
In:
The Lancet. Neurology vol. 17
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Depression comorbidity in spinocerebellar ataxia. [electronic resource] by
- Schmitz-Hübsch, Tanja
- Coudert, Mathieu
- Tezenas du Montcel, Sophie
- Giunti, Paola
- Labrum, Robyn
- Dürr, Alexandra
- Ribai, Pascale
- Charles, Perrine
- Linnemann, Christoph
- Schöls, Ludger
- Rakowicz, Maryla
- Rola, Rafal
- Zdzienicka, Elszbieta
- Fancellu, Roberto
- Mariotti, Caterina
- Baliko, Lazlo
- Melegh, Bela
- Filla, Alessandro
- Salvatore, Elena
- van de Warrenburg, Bart P C
- Szymanski, Sandra
- Infante, Jon
- Timmann, Dagmar
- Boesch, Sylvia
- Depondt, Chantal
- Kang, Jun-Suk
- Schulz, Jörg B
- Klopstock, Thomas
- Lossnitzer, Nicole
- Löwe, Bernd
- Frick, Caroline
- Rottländer, Daniela
- Schlaepfer, Thomas E
- Klockgether, Thomas
Producer: 20110824
In:
Movement disorders : official journal of the Movement Disorder Society vol. 26
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17.
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Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression. [electronic resource] by
- Diallo, Alhassane
- Jacobi, Heike
- Schmitz-Hübsch, Tanja
- Cook, Arron
- Labrum, Robyn
- Durr, Alexandra
- Brice, Alexis
- Charles, Perrine
- Marelli, Cecilia
- Mariotti, Caterina
- Nanetti, Lorenzo
- Panzeri, Marta
- Rakowicz, Maria
- Sobanska, Anna
- Sulek, Anna
- Schöls, Ludger
- Hengel, Holger
- Melegh, Bela
- Filla, Alessandro
- Antenora, Antonella
- Infante, Jon
- Berciano, José
- van de Warrenburg, Bart P
- Timmann, Dagmar
- Boesch, Sylvia
- Pandolfo, Massimo
- Schulz, Jörg B
- Bauer, Peter
- Giunti, Paola
- Baliko, Laszlo
- Parkinson, Michael H
- Kang, Jun-Suk
- Klockgether, Thomas
- Tezenas du Montcel, Sophie
Publication details: Movement disorders clinical practice
In:
Movement disorders clinical practice vol. 4
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18.
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Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia. [electronic resource] by
- Diallo, Alhassane
- Jacobi, Heike
- Cook, Arron
- Giunti, Paola
- Parkinson, Michael H
- Labrum, Robyn
- Durr, Alexandra
- Brice, Alexis
- Charles, Perrine
- Marelli, Cecilia
- Mariotti, Caterina
- Nanetti, Lorenzo
- Panzeri, Marta
- Castaldo, Anna
- Rakowicz, Maria
- Rola, Rafal
- Sulek, Anna
- Schmitz-Hübsch, Tanja
- Schöls, Ludger
- Hengel, Holger
- Baliko, Laszlo
- Melegh, Bela
- Filla, Alessandro
- Antenora, Antonella
- Infante, Jon
- Berciano, José
- van de Warrenburg, Bart P
- Timmann, Dagmar
- Boesch, Sylvia
- Nachbauer, Wolfgang
- Pandolfo, Massimo
- Schulz, Jörg B
- Bauer, Peter
- Jun-Suk, Kang
- Klockgether, Thomas
- Tezenas du Montcel, Sophie
Producer: 20200625
In:
Movement disorders : official journal of the Movement Disorder Society vol. 34
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19.
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Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. [electronic resource] by
- Jacobi, Heike
- du Montcel, Sophie Tezenas
- Bauer, Peter
- Giunti, Paola
- Cook, Arron
- Labrum, Robyn
- Parkinson, Michael H
- Durr, Alexandra
- Brice, Alexis
- Charles, Perrine
- Marelli, Cecilia
- Mariotti, Caterina
- Nanetti, Lorenzo
- Panzeri, Marta
- Rakowicz, Maria
- Sulek, Anna
- Sobanska, Anna
- Schmitz-Hübsch, Tanja
- Schöls, Ludger
- Hengel, Holger
- Baliko, Laszlo
- Melegh, Bela
- Filla, Alessandro
- Antenora, Antonella
- Infante, Jon
- Berciano, José
- van de Warrenburg, Bart P
- Timmann, Dagmar
- Szymanski, Sandra
- Boesch, Sylvia
- Kang, Jun-Suk
- Pandolfo, Massimo
- Schulz, Jörg B
- Molho, Sonia
- Diallo, Alhassane
- Klockgether, Thomas
Producer: 20160126
In:
The Lancet. Neurology vol. 14
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20.
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Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias. [electronic resource] by
- Jacobi, Heike
- du Montcel, Sophie Tezenas
- Bauer, Peter
- Giunti, Paola
- Cook, Arron
- Labrum, Robyn
- Parkinson, Michael H
- Durr, Alexandra
- Brice, Alexis
- Charles, Perrine
- Marelli, Cecilia
- Mariotti, Caterina
- Nanetti, Lorenzo
- Sarro, Lidia
- Rakowicz, Maria
- Sulek, Anna
- Sobanska, Anna
- Schmitz-Hübsch, Tanja
- Schöls, Ludger
- Hengel, Holger
- Baliko, Laszlo
- Melegh, Bela
- Filla, Alessandro
- Antenora, Antonella
- Infante, Jon
- Berciano, José
- van de Warrenburg, Bart P
- Timmann, Dagmar
- Szymanski, Sandra
- Boesch, Sylvia
- Nachbauer, Wolfgang
- Kang, Jun-Suk
- Pandolfo, Massimo
- Schulz, Jörg B
- Melac, Audrey Tanguy
- Diallo, Alhassane
- Klockgether, Thomas
Producer: 20181126
In:
Journal of neurology vol. 265
Availability: No items available.
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