Temistocle Lo Giudice, Federica Lombardi, Filippo Maria Santorelli, Toshitaka Kawarai, Antonio Orlacchio. Exp Neurol 2014
Times Cited: 202
Times Cited: 202
Times Cited
Times Co-cited
Similarity
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
John K Fink. Acta Neuropathol 2013
John K Fink. Acta Neuropathol 2013
31
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
Luis Ruano, Claudia Melo, M Carolina Silva, Paula Coutinho. Neuroepidemiology 2014
29
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira. Cerebellum 2017
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira. Cerebellum 2017
25
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Rebecca Schüle, Sarah Wiethoff, Peter Martus, Kathrin N Karle, Susanne Otto, Stephan Klebe, Sven Klimpe, Constanze Gallenmüller, Delia Kurzwelly, Dorothea Henkel,[...]. Ann Neurol 2016
Rebecca Schüle, Sarah Wiethoff, Peter Martus, Kathrin N Karle, Susanne Otto, Stephan Klebe, Sven Klimpe, Constanze Gallenmüller, Delia Kurzwelly, Dorothea Henkel,[...]. Ann Neurol 2016
23
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
22
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Andrew D Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour,[...]. Science 2014
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Andrew D Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour,[...]. Science 2014
21
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.
S Klebe, G Stevanin, C Depienne. Rev Neurol (Paris) 2015
S Klebe, G Stevanin, C Depienne. Rev Neurol (Paris) 2015
19
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Josef Finsterer, Wolfgang Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer-Grumbach, Giovanni Stevanin. J Neurol Sci 2012
Josef Finsterer, Wolfgang Löscher, Stefan Quasthoff, Julia Wanschitz, Michaela Auer-Grumbach, Giovanni Stevanin. J Neurol Sci 2012
17
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Nourelhoda A Haridy,[...]. Brain 2016
Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S Lynch, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Nourelhoda A Haridy,[...]. Brain 2016
16
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
Sara Salinas, Christos Proukakis, Andrew Crosby, Thomas T Warner. Lancet Neurol 2008
16
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Joanna M Solowska, Peter W Baas. Brain 2015
Joanna M Solowska, Peter W Baas. Brain 2015
19
Hereditary ataxias and paraparesias: clinical and genetic update.
Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2018
Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2018
28
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani,[...]. Neurol Genet 2016
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani,[...]. Neurol Genet 2016
28
14
The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.
R Schüle, T Holland-Letz, S Klimpe, J Kassubek, T Klopstock, V Mall, S Otto, B Winner, L Schöls. Neurology 2006
R Schüle, T Holland-Letz, S Klimpe, J Kassubek, T Klopstock, V Mall, S Otto, B Winner, L Schöls. Neurology 2006
12
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.
Matthis Synofzik, Rebecca Schüle. Mov Disord 2017
Matthis Synofzik, Rebecca Schüle. Mov Disord 2017
13
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
Joanna M Solowska, James Y Garbern, Peter W Baas. Hum Mol Genet 2010
Joanna M Solowska, James Y Garbern, Peter W Baas. Hum Mol Genet 2010
23
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.
Christelle Tesson, Jeanette Koht, Giovanni Stevanin. Hum Genet 2015
Christelle Tesson, Jeanette Koht, Giovanni Stevanin. Hum Genet 2015
13
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tezenas du Montcel, Marie-Lorraine Monin, Samia Ait Said, Justine Guegan, Chantal M E Tallaksen,[...]. Brain 2018
Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tezenas du Montcel, Marie-Lorraine Monin, Samia Ait Said, Justine Guegan, Chantal M E Tallaksen,[...]. Brain 2018
29
Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.
Samuel Shribman, Evan Reid, Andrew H Crosby, Henry Houlden, Thomas T Warner. Lancet Neurol 2019
Samuel Shribman, Evan Reid, Andrew H Crosby, Henry Houlden, Thomas T Warner. Lancet Neurol 2019
15
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
José Leal Loureiro, Eva Brandão, Luis Ruano, Ana F Brandão, Ana M Lopes, Carolina Thieleke-Matos, Leonor Miller-Fleming, Vitor T Cruz, Mafalda Barbosa, Isabel Silveira,[...]. JAMA Neurol 2013
José Leal Loureiro, Eva Brandão, Luis Ruano, Ana F Brandão, Ana M Lopes, Carolina Thieleke-Matos, Leonor Miller-Fleming, Vitor T Cruz, Mafalda Barbosa, Isabel Silveira,[...]. JAMA Neurol 2013
25
Hereditary spastic paraplegia: More than an upper motor neuron disease.
L Parodi, S Fenu, G Stevanin, A Durr. Rev Neurol (Paris) 2017
L Parodi, S Fenu, G Stevanin, A Durr. Rev Neurol (Paris) 2017
23
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
Moneef Shoukier, Juergen Neesen, Simone M Sauter, Loukas Argyriou, Nadine Doerwald, D V Krishna Pantakani, Ashraf U Mannan. Eur J Hum Genet 2009
Moneef Shoukier, Juergen Neesen, Simone M Sauter, Loukas Argyriou, Nadine Doerwald, D V Krishna Pantakani, Ashraf U Mannan. Eur J Hum Genet 2009
15
The extent of axonal loss in the long tracts in hereditary spastic paraplegia.
G C Deluca, G C Ebers, M M Esiri. Neuropathol Appl Neurobiol 2004
G C Deluca, G C Ebers, M M Esiri. Neuropathol Appl Neurobiol 2004
9
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Paola S Denora, Elodie Martin, Anne-Marie Ouvrard-Hernandez, Alessandra Tessa, Naïma Bouslam,[...]. Nat Genet 2007
Giovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, Paula Coutinho, Jacques Chomilier, Paola S Denora, Elodie Martin, Anne-Marie Ouvrard-Hernandez, Alessandra Tessa, Naïma Bouslam,[...]. Nat Genet 2007
9
Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.
Joanna M Solowska, Mitchell D'Rozario, Daphney C Jean, Michael W Davidson, Daniel R Marenda, Peter W Baas. J Neurosci 2014
Joanna M Solowska, Mitchell D'Rozario, Daphney C Jean, Michael W Davidson, Daniel R Marenda, Peter W Baas. J Neurosci 2014
27
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini,[...]. Front Neurol 2018
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini,[...]. Front Neurol 2018
25
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Janneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, Salma Ben-Salem, Susanne T de Bot, Bonnie Nijhof, Ilse I G M van de Vondervoort, Marinette van der Graaf, Anna Castells Nobau, Irene Otte-Höller,[...]. Am J Hum Genet 2012
Janneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, Salma Ben-Salem, Susanne T de Bot, Bonnie Nijhof, Ilse I G M van de Vondervoort, Marinette van der Graaf, Anna Castells Nobau, Irene Otte-Höller,[...]. Am J Hum Genet 2012
9
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Ribeiro, José Leal Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso,[...]. Eur J Hum Genet 2017
Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Ribeiro, José Leal Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso,[...]. Eur J Hum Genet 2017
23
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.
Steven Havlicek, Zacharias Kohl, Himanshu K Mishra, Iryna Prots, Esther Eberhardt, Naime Denguir, Holger Wend, Sonja Plötz, Leah Boyer, Maria C N Marchetto,[...]. Hum Mol Genet 2014
Steven Havlicek, Zacharias Kohl, Himanshu K Mishra, Iryna Prots, Esther Eberhardt, Naime Denguir, Holger Wend, Sonja Plötz, Leah Boyer, Maria C N Marchetto,[...]. Hum Mol Genet 2014
10
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
N Fonknechten, D Mavel, P Byrne, C S Davoine, C Cruaud, D Bönsch, D Samson, P Coutinho, M Hutchinson, P McMonagle,[...]. Hum Mol Genet 2000
N Fonknechten, D Mavel, P Byrne, C S Davoine, C Cruaud, D Bönsch, D Samson, P Coutinho, M Hutchinson, P McMonagle,[...]. Hum Mol Genet 2000
8
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
A E Harding. J Neurol Neurosurg Psychiatry 1981
A E Harding. J Neurol Neurosurg Psychiatry 1981
8
Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.
Anke Hensiek, Stephen Kirker, Evan Reid. J Neurol 2015
Anke Hensiek, Stephen Kirker, Evan Reid. J Neurol 2015
22
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Christelle Tesson, Magdalena Nawara, Mustafa A M Salih, Rodrigue Rossignol, Maha S Zaki, Mohammed Al Balwi, Rebecca Schule, Cyril Mignot, Emilie Obre, Ahmed Bouhouche,[...]. Am J Hum Genet 2012
Christelle Tesson, Magdalena Nawara, Mustafa A M Salih, Rodrigue Rossignol, Maha S Zaki, Mohammed Al Balwi, Rebecca Schule, Cyril Mignot, Emilie Obre, Ahmed Bouhouche,[...]. Am J Hum Genet 2012
8
Hereditary spastic paraplegias: an update.
Christel Depienne, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2007
Christel Depienne, Giovanni Stevanin, Alexis Brice, Alexandra Durr. Curr Opin Neurol 2007
7
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
J Hazan, N Fonknechten, D Mavel, C Paternotte, D Samson, F Artiguenave, C S Davoine, C Cruaud, A Dürr, P Wincker,[...]. Nat Genet 1999
J Hazan, N Fonknechten, D Mavel, C Paternotte, D Samson, F Artiguenave, C S Davoine, C Cruaud, A Dürr, P Wincker,[...]. Nat Genet 1999
7
Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia.
Joanna M Solowska, Gerardo Morfini, Aditi Falnikar, B Timothy Himes, Scott T Brady, Dongyang Huang, Peter W Baas. J Neurosci 2008
Joanna M Solowska, Gerardo Morfini, Aditi Falnikar, B Timothy Himes, Scott T Brady, Dongyang Huang, Peter W Baas. J Neurosci 2008
8
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Alessia Errico, Andrea Ballabio, Elena I Rugarli. Hum Mol Genet 2002
Alessia Errico, Andrea Ballabio, Elena I Rugarli. Hum Mol Genet 2002
7
Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus.
Pamela Claudiani, Elena Riano, Alessia Errico, Gennaro Andolfi, Elena I Rugarli. Exp Cell Res 2005
Pamela Claudiani, Elena Riano, Alessia Errico, Gennaro Andolfi, Elena I Rugarli. Exp Cell Res 2005
8
Spastin binds to lipid droplets and affects lipid metabolism.
Chrisovalantis Papadopoulos, Genny Orso, Giuseppe Mancuso, Marija Herholz, Sentiljana Gumeni, Nimesha Tadepalle, Christian Jüngst, Anne Tzschichholz, Astrid Schauss, Stefan Höning,[...]. PLoS Genet 2015
Chrisovalantis Papadopoulos, Genny Orso, Giuseppe Mancuso, Marija Herholz, Sentiljana Gumeni, Nimesha Tadepalle, Christian Jüngst, Anne Tzschichholz, Astrid Schauss, Stefan Höning,[...]. PLoS Genet 2015
11
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
Seong H Park, Peng-Peng Zhu, Rell L Parker, Craig Blackstone. J Clin Invest 2010
Seong H Park, Peng-Peng Zhu, Rell L Parker, Craig Blackstone. J Clin Invest 2010
7
Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
J Bürger, N Fonknechten, M Hoeltzenbein, L Neumann, E Bratanoff, J Hazan, A Reis. Eur J Hum Genet 2000
J Bürger, N Fonknechten, M Hoeltzenbein, L Neumann, E Bratanoff, J Hazan, A Reis. Eur J Hum Genet 2000
11
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Giovanni Stevanin, Hamid Azzedine, Paola Denora, Amir Boukhris, Meriem Tazir, Alexander Lossos, Alberto Luis Rosa, Israela Lerer, Abdelmadjid Hamri, Paulo Alegria,[...]. Brain 2008
Giovanni Stevanin, Hamid Azzedine, Paola Denora, Amir Boukhris, Meriem Tazir, Alexander Lossos, Alberto Luis Rosa, Israela Lerer, Abdelmadjid Hamri, Paulo Alegria,[...]. Brain 2008
7
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, Claudia Ciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli,[...]. Brain 2014
Viviana Pensato, Barbara Castellotti, Cinzia Gellera, Davide Pareyson, Claudia Ciano, Lorenzo Nanetti, Ettore Salsano, Giuseppe Piscosquito, Elisa Sarto, Marica Eoli,[...]. Brain 2014
7
Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
Daniela Burguez, Márcia Polese-Bonatto, Laís Alves Jacinto Scudeiro, Ingemar Björkhem, Ludger Schöls, Laura Bannach Jardim, Ursula Matte, Maria Luiza Saraiva-Pereira, Marina Siebert, Jonas Alex Morales Saute. J Neurol Sci 2017
Daniela Burguez, Márcia Polese-Bonatto, Laís Alves Jacinto Scudeiro, Ingemar Björkhem, Ludger Schöls, Laura Bannach Jardim, Ursula Matte, Maria Luiza Saraiva-Pereira, Marina Siebert, Jonas Alex Morales Saute. J Neurol Sci 2017
24
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Cyril Goizet, Christel Depienne, Giovanni Benard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie-Laure Martin-Négrier, Estelle Fedirko,[...]. Hum Mutat 2011
Cyril Goizet, Christel Depienne, Giovanni Benard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie-Laure Martin-Négrier, Estelle Fedirko,[...]. Hum Mutat 2011
10
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
S T de Bot, R T M van den Elzen, A R Mensenkamp, H J Schelhaas, M A A P Willemsen, N V A M Knoers, H P H Kremer, B P C van de Warrenburg, H Scheffer. J Neurol Neurosurg Psychiatry 2010
S T de Bot, R T M van den Elzen, A R Mensenkamp, H J Schelhaas, M A A P Willemsen, N V A M Knoers, H P H Kremer, B P C van de Warrenburg, H Scheffer. J Neurol Neurosurg Psychiatry 2010
21
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Ziv Gan-Or, Naima Bouslam, Nazha Birouk, Alexandra Lissouba, Daniel B Chambers, Julie Vérièpe, Alaura Androschuk, Sandra B Laurent, Daniel Rochefort, Dan Spiegelman,[...]. Am J Hum Genet 2016
Ziv Gan-Or, Naima Bouslam, Nazha Birouk, Alexandra Lissouba, Daniel B Chambers, Julie Vérièpe, Alaura Androschuk, Sandra B Laurent, Daniel Rochefort, Dan Spiegelman,[...]. Am J Hum Genet 2016
10
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.