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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

Shribman, Samuel ; Reid, Evan ; Crosby, Andrew H ; Houlden, Henry ; Warner, Thomas T

Lancet neurology, 2019-12, Vol.18 (12), p.1136-1146 [Periódico revisado por pares]

England: Elsevier Ltd

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2
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
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Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Kara, Eleanna ; Tucci, Arianna ; Manzoni, Claudia ; Lynch, David S ; Elpidorou, Marilena ; Bettencourt, Conceicao ; Chelban, Viorica ; Manole, Andreea ; Hamed, Sherifa A ; Haridy, Nourelhoda A ; Federoff, Monica ; Preza, Elisavet ; Hughes, Deborah ; Pittman, Alan ; Jaunmuktane, Zane ; Brandner, Sebastian ; Xiromerisiou, Georgia ; Wiethoff, Sarah ; Schottlaender, Lucia ; Proukakis, Christos ; Morris, Huw ; Warner, Tom ; Bhatia, Kailash P ; Korlipara, L V Prasad ; Singleton, Andrew B ; Hardy, John ; Wood, Nicholas W ; Lewis, Patrick A ; Houlden, Henry

Brain (London, England : 1878), 2016-07, Vol.139 (Pt 7), p.1904-1918 [Periódico revisado por pares]

England: Oxford University Press

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3
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Minnerop, Martina ; Kurzwelly, Delia ; Wagner, Holger ; Soehn, Anne S ; Reichbauer, Jennifer ; Tao, Feifei ; Rattay, Tim W ; Peitz, Michael ; Rehbach, Kristina ; Giorgetti, Alejandro ; Pyle, Angela ; Thiele, Holger ; Altmüller, Janine ; Timmann, Dagmar ; Karaca, Ilker ; Lennarz, Martina ; Baets, Jonathan ; Hengel, Holger ; Synofzik, Matthis ; Atasu, Burcu ; Feely, Shawna ; Kennerson, Marina ; Stendel, Claudia ; Lindig, Tobias ; Gonzalez, Michael A ; Stirnberg, Rüdiger ; Sturm, Marc ; Roeske, Sandra ; Jung, Johanna ; Bauer, Peter ; Lohmann, Ebba ; Herms, Stefan ; Heilmann-Heimbach, Stefanie ; Nicholson, Garth ; Mahanjah, Muhammad ; Sharkia, Rajech ; Carloni, Paolo ; Brüstle, Oliver ; Klopstock, Thomas ; Mathews, Katherine D ; Shy, Michael E ; de Jonghe, Peter ; Chinnery, Patrick F ; Horvath, Rita ; Kohlhase, Jürgen ; Schmitt, Ina ; Wolf, Michael ; Greschus, Susanne ; Amunts, Katrin ; Maier, Wolfgang ; Schöls, Ludger ; Nürnberg, Peter ; Zuchner, Stephan ; Klockgether, Thomas ; Ramirez, Alfredo ; Schüle, Rebecca

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1561-1578 [Periódico revisado por pares]

England: Oxford University Press

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4
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis
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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

Ahmed, Mustafa Y ; Al-Khayat, Aisha ; Al-Murshedi, Fathiya ; Al-Futaisi, Amna ; Chioza, Barry A ; Pedro Fernandez-Murray, J ; Self, Jay E ; Salter, Claire G ; Harlalka, Gaurav V ; Rawlins, Lettie E ; Al-Zuhaibi, Sana ; Al-Azri, Faisal ; Al-Rashdi, Fatma ; Cazenave-Gassiot, Amaury ; Wenk, Markus R ; Al-Salmi, Fatema ; Patton, Michael A ; Silver, David L ; Baple, Emma L ; McMaster, Christopher R ; Crosby, Andrew H

Brain (London, England : 1878), 2017-03, Vol.140 (3), p.547-554 [Periódico revisado por pares]

England: Oxford University Press

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5
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Estrada-Cuzcano, Alejandro ; Martin, Shaun ; Chamova, Teodora ; Synofzik, Matthis ; Timmann, Dagmar ; Holemans, Tine ; Andreeva, Albena ; Reichbauer, Jennifer ; De Rycke, Riet ; Chang, Dae-In ; van Veen, Sarah ; Samuel, Jean ; Schöls, Ludger ; Pöppel, Thorsten ; Mollerup Sørensen, Danny ; Asselbergh, Bob ; Klein, Christine ; Zuchner, Stephan ; Jordanova, Albena ; Vangheluwe, Peter ; Tournev, Ivailo ; Schüle, Rebecca

Brain (London, England : 1878), 2017-02, Vol.140 (2), p.287-305 [Periódico revisado por pares]

England: Oxford University Press

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6
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia
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Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia

de Freitas, Júlian Letícia ; Rezende Filho, Flávio Moura ; Sallum, Juliana M.F. ; França, Marcondes Cavalcante ; Pedroso, José Luiz ; Barsottini, Orlando G.P.

Journal of the neurological sciences, 2020-02, Vol.409, p.116620-116620, Article 116620 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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7
Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese
Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese
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Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese

Dong, Yue ; Li, Xu-Ying ; Wang, Xian-Ling ; Xu, Fanxi ; Wang, Zhan-Jun ; Song, Yang ; Li, Qibin ; Lin, Ruichai ; Wang, Chaodong

Neuroscience letters, 2021-09, Vol.761, p.136108-136108, Article 136108 [Periódico revisado por pares]

Ireland: Elsevier B.V

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8
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Ebrahimi-Fakhari, Darius ; Teinert, Julian ; Behne, Robert ; Wimmer, Miriam ; D'Amore, Angelica ; Eberhardt, Kathrin ; Brechmann, Barbara ; Ziegler, Marvin ; Jensen, Dana M ; Nagabhyrava, Premsai ; Geisel, Gregory ; Carmody, Erin ; Shamshad, Uzma ; Dies, Kira A ; Yuskaitis, Christopher J ; Salussolia, Catherine L ; Ebrahimi-Fakhari, Daniel ; Pearson, Toni S ; Saffari, Afshin ; Ziegler, Andreas ; Kölker, Stefan ; Volkmann, Jens ; Wiesener, Antje ; Bearden, David R ; Lakhani, Shenela ; Segal, Devorah ; Udwadia-Hegde, Anaita ; Martinuzzi, Andrea ; Hirst, Jennifer ; Perlman, Seth ; Takiyama, Yoshihisa ; Xiromerisiou, Georgia ; Vill, Katharina ; Walker, William O ; Shukla, Anju ; Dubey Gupta, Rachana ; Dahl, Niklas ; Aksoy, Ayse ; Verhelst, Helene ; Delgado, Mauricio R ; Kremlikova Pourova, Radka ; Sadek, Abdelrahim A ; Elkhateeb, Nour M ; Blumkin, Lubov ; Brea-Fernández, Alejandro J ; Dacruz-Álvarez, David ; Smol, Thomas ; Ghoumid, Jamal ; Miguel, Diego ; Heine, Constanze ; Schlump, Jan-Ulrich ; Langen, Hendrik ; Baets, Jonathan ; Bulk, Saskia ; Darvish, Hossein ; Bakhtiari, Somayeh ; Kruer, Michael C ; Lim-Melia, Elizabeth ; Aydinli, Nur ; Alanay, Yasemin ; El-Rashidy, Omnia ; Nampoothiri, Sheela ; Patel, Chirag ; Beetz, Christian ; Bauer, Peter ; Yoon, Grace ; Guillot, Mireille ; Miller, Steven P ; Bourinaris, Thomas ; Houlden, Henry ; Robelin, Laura ; Anheim, Mathieu ; Alamri, Abdullah S ; Mahmoud, Adel A H ; Inaloo, Soroor ; Habibzadeh, Parham ; Faghihi, Mohammad Ali ; Jansen, Anna C ; Brock, Stefanie ; Roubertie, Agathe ; Darras, Basil T ; Agrawal, Pankaj B ; Santorelli, Filippo M ; Gleeson, Joseph ; Zaki, Maha S ; Sheikh, Sarah I ; Bennett, James T ; Sahin, Mustafa

Brain (London, England : 1878), 2020-10, Vol.143 (10), p.2929-2944 [Periódico revisado por pares]

England: Oxford University Press

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9
White matter abnormalities in 15 subjects with SPG76
White matter abnormalities in 15 subjects with SPG76
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White matter abnormalities in 15 subjects with SPG76

Alkhalifa, Abdulrahman ; Chen, Shihan ; Hasiloglu, Zehra Isik ; Filosto, Massimiliano ; Cali, Elisa ; Houlden, Henry ; Sgobbi de Souza, Paulo ; Alavi, Afagh ; Goizet, Cyril ; Stevanin, Giovanni ; Taithe, Frederic ; Nicita, Francesco ; Vasco, Gessica ; Tozza, Stefano ; Cocozza, Sirio ; Carboni, Nicola ; Figus, Andrea ; Wu, Jianjun ; Basak, A. Nazli ; Brais, Bernard ; Rouleau, Guy ; La Piana, Roberta

Journal of neurology, 2023-12, Vol.270 (12), p.5784-5792 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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10
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement
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Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

Hotchkiss, Leslie ; Donkervoort, Sandra ; Leach, Meganne E. ; Mohassel, Payam ; Bharucha-Goebel, Diana X. ; Bradley, Nathaniel ; Nguyen, David ; Hu, Ying ; Gurgel-Giannetti, Juliana ; Bönnemann, Carsten G.

Journal of child neurology, 2016-08, Vol.31 (9), p.1114-1119 [Periódico revisado por pares]

Los Angeles, CA: SAGE Publications

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