Paula Coutinho, Luis Ruano, José L Loureiro, Vitor T Cruz, José Barros, Assunção Tuna, Clara Barbot, João Guimarães, Isabel Alonso, Isabel Silveira, Jorge Sequeiros, José Marques Neves, Pedro Serrano, M Carolina Silva. JAMA Neurol 2013
Times Cited: 71
Times Cited: 71
Times Cited
Times Co-cited
Similarity
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
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Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Anne Kjersti Erichsen, Jeanette Koht, Asbjørg Stray-Pedersen, Michael Abdelnoor, Chantal M E Tallaksen. Brain 2009
Anne Kjersti Erichsen, Jeanette Koht, Asbjørg Stray-Pedersen, Michael Abdelnoor, Chantal M E Tallaksen. Brain 2009
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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
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Epidemiology and population genetics of degenerative ataxias.
Jorge Sequeiros, Sandra Martins, Isabel Silveira. Handb Clin Neurol 2012
Jorge Sequeiros, Sandra Martins, Isabel Silveira. Handb Clin Neurol 2012
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Sporadic ataxias in Japan--a population-based epidemiological study.
Shoji Tsuji, Osamu Onodera, Jun Goto, Masatoyo Nishizawa. Cerebellum 2008
Shoji Tsuji, Osamu Onodera, Jun Goto, Masatoyo Nishizawa. Cerebellum 2008
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Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.
Temistocle Lo Giudice, Federica Lombardi, Filippo Maria Santorelli, Toshitaka Kawarai, Antonio Orlacchio. Exp Neurol 2014
Temistocle Lo Giudice, Federica Lombardi, Filippo Maria Santorelli, Toshitaka Kawarai, Antonio Orlacchio. Exp Neurol 2014
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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
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The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia.
Mark Braschinsky, Siiri-Merike Luus, Katrin Gross-Paju, Sulev Haldre. Neuroepidemiology 2009
Mark Braschinsky, Siiri-Merike Luus, Katrin Gross-Paju, Sulev Haldre. Neuroepidemiology 2009
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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.
C Goizet, A Boukhris, D Maltete, L Guyant-Maréchal, J Truchetto, E Mundwiller, S Hanein, P Jonveaux, F Roelens, J Loureiro,[...]. Neurology 2009
C Goizet, A Boukhris, D Maltete, L Guyant-Maréchal, J Truchetto, E Mundwiller, S Hanein, P Jonveaux, F Roelens, J Loureiro,[...]. Neurology 2009
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Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
John K Fink. Acta Neuropathol 2013
John K Fink. Acta Neuropathol 2013
11
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
11
Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.
Raphael Machado de Castilhos, Gabriel Vasata Furtado, Tailise Conte Gheno, Paola Schaeffer, Aline Russo, Orlando Barsottini, José Luiz Pedroso, Diego Z Salarini, Fernando Regla Vargas, Maria Angélica de Faria Domingues de Lima,[...]. Cerebellum 2014
Raphael Machado de Castilhos, Gabriel Vasata Furtado, Tailise Conte Gheno, Paola Schaeffer, Aline Russo, Orlando Barsottini, José Luiz Pedroso, Diego Z Salarini, Fernando Regla Vargas, Maria Angélica de Faria Domingues de Lima,[...]. Cerebellum 2014
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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
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SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie-Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau,[...]. Eur J Hum Genet 2016
Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie-Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau,[...]. Eur J Hum Genet 2016
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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
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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
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Spinocerebellar ataxia.
Thomas Klockgether, Caterina Mariotti, Henry L Paulson. Nat Rev Dis Primers 2019
Thomas Klockgether, Caterina Mariotti, Henry L Paulson. Nat Rev Dis Primers 2019
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Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
A Boukhris, G Stevanin, I Feki, P Denora, N Elleuch, M I Miladi, C Goizet, J Truchetto, S Belal, A Brice,[...]. Clin Genet 2009
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Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
Alexandra Durr. Lancet Neurol 2010
9
Non-ATG-initiated translation directed by microsatellite expansions.
Tao Zu, Brian Gibbens, Noelle S Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D Stone, Jamie Margolis, Mark Peterson, Todd W Markowski, Melissa A C Ingram,[...]. Proc Natl Acad Sci U S A 2011
Tao Zu, Brian Gibbens, Noelle S Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D Stone, Jamie Margolis, Mark Peterson, Todd W Markowski, Melissa A C Ingram,[...]. Proc Natl Acad Sci U S A 2011
9
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro. Am J Hum Genet 2015
Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro. Am J Hum Genet 2015
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Polyglutamine spinocerebellar ataxias - from genes to potential treatments.
Henry L Paulson, Vikram G Shakkottai, H Brent Clark, Harry T Orr. Nat Rev Neurosci 2017
Henry L Paulson, Vikram G Shakkottai, H Brent Clark, Harry T Orr. Nat Rev Neurosci 2017
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Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.
M C Silva, P Coutinho, C D Pinheiro, J M Neves, P Serrano. J Clin Epidemiol 1997
M C Silva, P Coutinho, C D Pinheiro, J M Neves, P Serrano. J Clin Epidemiol 1997
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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
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Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability.
M Leone, E Bottacchi, G D'Alessandro, S Kustermann. Acta Neurol Scand 1995
M Leone, E Bottacchi, G D'Alessandro, S Kustermann. Acta Neurol Scand 1995
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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
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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa, M Inoue, S Katayama, H Kawakami, S Nakamura, M Nishimura, I Akiguchi. Nat Genet 1994
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Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Riess. Lancet Neurol 2004
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Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
Hatasu Kobayashi, Koji Abe, Tohru Matsuura, Yoshio Ikeda, Toshiaki Hitomi, Yuji Akechi, Toshiyuki Habu, Wanyang Liu, Hiroko Okuda, Akio Koizumi. Am J Hum Genet 2011
Hatasu Kobayashi, Koji Abe, Tohru Matsuura, Yoshio Ikeda, Toshiaki Hitomi, Yuji Akechi, Toshiyuki Habu, Wanyang Liu, Hiroko Okuda, Akio Koizumi. Am J Hum Genet 2011
8
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Ute Hehr, Peter Bauer, Beate Winner, Rebecca Schule, Akguen Olmez, Wolfgang Koehler, Goekhan Uyanik, Anna Engel, Daniela Lenz, Andrea Seibel,[...]. Ann Neurol 2007
Ute Hehr, Peter Bauer, Beate Winner, Rebecca Schule, Akguen Olmez, Wolfgang Koehler, Goekhan Uyanik, Anna Engel, Daniela Lenz, Andrea Seibel,[...]. Ann Neurol 2007
8
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco,[...]. Brain 2012
Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco,[...]. Brain 2012
8
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
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8
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu, Berry P H Kremer, Suzanna G M Frints, Wendy A G van Zelst-Stams, Paula Byrne, Susanne Otto,[...]. Brain 2008
Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu, Berry P H Kremer, Suzanna G M Frints, Wendy A G van Zelst-Stams, Paula Byrne, Susanne Otto,[...]. Brain 2008
8
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
I Silveira, C Miranda, L Guimarães, M-C Moreira, I Alonso, P Mendonça, A Ferro, J Pinto-Basto, J Coelho, F Ferreirinha,[...]. Arch Neurol 2002
I Silveira, C Miranda, L Guimarães, M-C Moreira, I Alonso, P Mendonça, A Ferro, J Pinto-Basto, J Coelho, F Ferreirinha,[...]. Arch Neurol 2002
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Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.
Jaerak Chang, Seongju Lee, Craig Blackstone. J Clin Invest 2014
Jaerak Chang, Seongju Lee, Craig Blackstone. J Clin Invest 2014
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SPG7 mutations are a common cause of undiagnosed ataxia.
Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack Miller, Valerie Wilson, Lisa Turnbull, Katherine Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou,[...]. Neurology 2015
Gerald Pfeffer, Angela Pyle, Helen Griffin, Jack Miller, Valerie Wilson, Lisa Turnbull, Katherine Fawcett, David Sims, Gail Eglon, Marios Hadjivassiliou,[...]. Neurology 2015
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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
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Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J Raphael Gibbs,[...]. JAMA Neurol 2018
Marie Coutelier, Monia B Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J Raphael Gibbs,[...]. JAMA Neurol 2018
10
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
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Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy.
F Brignolio, M Leone, A Tribolo, M G Rosso, P Meineri, D Schiffer. Ital J Neurol Sci 1986
F Brignolio, M Leone, A Tribolo, M G Rosso, P Meineri, D Schiffer. Ital J Neurol Sci 1986
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Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.
J M Polo, J Calleja, O Combarros, J Berciano. Brain 1991
J M Polo, J Calleja, O Combarros, J Berciano. Brain 1991
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Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy.
A Filla, G De Michele, R Marconi, L Bucci, C Carillo, A E Castellano, L Iorio, C Kniahynicki, F Rossi, G Campanella. J Neurol 1992
A Filla, G De Michele, R Marconi, L Bucci, C Carillo, A E Castellano, L Iorio, C Kniahynicki, F Rossi, G Campanella. J Neurol 1992
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The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.
P McMonagle, S Webb, M Hutchinson. J Neurol Neurosurg Psychiatry 2002
P McMonagle, S Webb, M Hutchinson. J Neurol Neurosurg Psychiatry 2002
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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
R Schüle, N Schlipf, M Synofzik, S Klebe, S Klimpe, U Hehr, B Winner, T Lindig, A Dotzer, O Riess,[...]. J Neurol Neurosurg Psychiatry 2009
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9
Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice.
Coralie Fassier, Anne Tarrade, Leticia Peris, Sabrina Courageot, Philippe Mailly, Cécile Dalard, Stéphanie Delga, Natacha Roblot, Julien Lefèvre, Didier Job,[...]. Dis Model Mech 2013
Coralie Fassier, Anne Tarrade, Leticia Peris, Sabrina Courageot, Philippe Mailly, Cécile Dalard, Stéphanie Delga, Natacha Roblot, Julien Lefèvre, Didier Job,[...]. Dis Model Mech 2013
8
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
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SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, Roberto Massa, Sarenur Basaran, Renato P Munhoz, Ekaterina A Rogaeva, Peter H St George-Hyslop, Giorgio Bernardi,[...]. Brain 2010
Antonio Orlacchio, Carla Babalini, Antonella Borreca, Clarice Patrono, Roberto Massa, Sarenur Basaran, Renato P Munhoz, Ekaterina A Rogaeva, Peter H St George-Hyslop, Giorgio Bernardi,[...]. Brain 2010
7
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Koen L I van Gassen, Charlotte D C C van der Heijden, Susanne T de Bot, Wilfred F A den Dunnen, Leonard H van den Berg, Corien C Verschuuren-Bemelmans, H P H Kremer, Jan H Veldink, Erik-Jan Kamsteeg, Hans Scheffer,[...]. Brain 2012
Koen L I van Gassen, Charlotte D C C van der Heijden, Susanne T de Bot, Wilfred F A den Dunnen, Leonard H van den Berg, Corien C Verschuuren-Bemelmans, H P H Kremer, Jan H Veldink, Erik-Jan Kamsteeg, Hans Scheffer,[...]. Brain 2012
7
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia.
P Hedera, O P Eldevik, P Maly, S Rainier, J K Fink. Neuroradiology 2005
P Hedera, O P Eldevik, P Maly, S Rainier, J K Fink. Neuroradiology 2005
8
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.