| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Julie S Snowden, Sara Rollinson, Jennifer C Thompson, Jennifer M Harris, Cheryl L Stopford, Anna M T Richardson, Matthew Jones, Alex Gerhard, Yvonne S Davidson, Andrew Robinson, Linda Gibbons, Quan Hu, Daniel DuPlessis, David Neary, David M A Mann, Stuart M Pickering-Brow. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300873. |
distinct clinical and pathological characteristics of frontotemporal dementia associated with c9orf72 mutations. |
2012-04-09 |
2023-08-12 |
Not clear |
| Julie S Snowden, Sara Rollinson, Jennifer C Thompson, Jennifer M Harris, Cheryl L Stopford, Anna M T Richardson, Matthew Jones, Alex Gerhard, Yvonne S Davidson, Andrew Robinson, Linda Gibbons, Quan Hu, Daniel DuPlessis, David Neary, David M A Mann, Stuart M Pickering-Brow. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300873. |
the identification of a hexanucleotide repeat expansion in the c9orf72 gene as the cause of chromosome 9-linked frontotemporal dementia and motor neuron disease offers the opportunity for greater understanding of the relationship between these disorders and other clinical forms of frontotemporal lobar degeneration. |
2012-04-09 |
2023-08-12 |
Not clear |
| Julie S Snowden, Sara Rollinson, Jennifer C Thompson, Jennifer M Harris, Cheryl L Stopford, Anna M T Richardson, Matthew Jones, Alex Gerhard, Yvonne S Davidson, Andrew Robinson, Linda Gibbons, Quan Hu, Daniel DuPlessis, David Neary, David M A Mann, Stuart M Pickering-Brow. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300873. |
in this study, we screened a cohort of 398 patients with frontotemporal dementia, progressive non-fluent aphasia, semantic dementia or mixture of these syndromes for mutations in the c9orf72 gene. |
2012-04-09 |
2023-08-12 |
Not clear |
| Julie S Snowden, Sara Rollinson, Jennifer C Thompson, Jennifer M Harris, Cheryl L Stopford, Anna M T Richardson, Matthew Jones, Alex Gerhard, Yvonne S Davidson, Andrew Robinson, Linda Gibbons, Quan Hu, Daniel DuPlessis, David Neary, David M A Mann, Stuart M Pickering-Brow. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300873. |
the findings indicate that c9orf72 mutations cause some but not all cases of frontotemporal dementia with motor neuron disease. |
2012-04-09 |
2023-08-12 |
Not clear |
| Julie S Snowden, Sara Rollinson, Jennifer C Thompson, Jennifer M Harris, Cheryl L Stopford, Anna M T Richardson, Matthew Jones, Alex Gerhard, Yvonne S Davidson, Andrew Robinson, Linda Gibbons, Quan Hu, Daniel DuPlessis, David Neary, David M A Mann, Stuart M Pickering-Brow. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300873. |
mutations in the c9orf72 gene may be a major cause not only of frontotemporal dementia with motor neuron disease but also of late onset psychosis. |
2012-04-09 |
2023-08-12 |
Not clear |
| Javier Simón-Sánchez, Elise G P Dopper, Petra E Cohn-Hokke, Renate K Hukema, Nayia Nicolaou, Harro Seelaar, J Roos A de Graaf, Inge de Koning, Natasja M van Schoor, Dorly J H Deeg, Marion Smits, Joost Raaphorst, Leonard H van den Berg, Helenius J Schelhaas, Christine E M De Die-Smulders, Danielle Majoor-Krakauer, Annemieke J M Rozemuller, Rob Willemsen, Yolande A L Pijnenburg, Peter Heutink, John C van Swiete. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300876. |
recently, a hexanucleotide repeat expansion in c9orf72 was identified as a major cause of both sporadic and familial frontotemporal dementia and amyotrophic lateral sclerosis. |
2012-04-09 |
2023-08-12 |
Not clear |
| Javier Simón-Sánchez, Elise G P Dopper, Petra E Cohn-Hokke, Renate K Hukema, Nayia Nicolaou, Harro Seelaar, J Roos A de Graaf, Inge de Koning, Natasja M van Schoor, Dorly J H Deeg, Marion Smits, Joost Raaphorst, Leonard H van den Berg, Helenius J Schelhaas, Christine E M De Die-Smulders, Danielle Majoor-Krakauer, Annemieke J M Rozemuller, Rob Willemsen, Yolande A L Pijnenburg, Peter Heutink, John C van Swiete. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300876. |
the aim of this study was to investigate clinical and neuropathological characteristics of hexanucleotide repeat expansions in c9orf72 in a large cohort of dutch patients with frontotemporal dementia. |
2012-04-09 |
2023-08-12 |
Not clear |
| Javier Simón-Sánchez, Elise G P Dopper, Petra E Cohn-Hokke, Renate K Hukema, Nayia Nicolaou, Harro Seelaar, J Roos A de Graaf, Inge de Koning, Natasja M van Schoor, Dorly J H Deeg, Marion Smits, Joost Raaphorst, Leonard H van den Berg, Helenius J Schelhaas, Christine E M De Die-Smulders, Danielle Majoor-Krakauer, Annemieke J M Rozemuller, Rob Willemsen, Yolande A L Pijnenburg, Peter Heutink, John C van Swiete. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300876. |
hexanucleotide repeat expansions in c9orf72 were found in 37 patients with familial (28.7%) and five with sporadic frontotemporal dementia (2.2%). |
2012-04-09 |
2023-08-12 |
Not clear |
| Javier Simón-Sánchez, Elise G P Dopper, Petra E Cohn-Hokke, Renate K Hukema, Nayia Nicolaou, Harro Seelaar, J Roos A de Graaf, Inge de Koning, Natasja M van Schoor, Dorly J H Deeg, Marion Smits, Joost Raaphorst, Leonard H van den Berg, Helenius J Schelhaas, Christine E M De Die-Smulders, Danielle Majoor-Krakauer, Annemieke J M Rozemuller, Rob Willemsen, Yolande A L Pijnenburg, Peter Heutink, John C van Swiete. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300876. |
the hexanucleotide repeat expansion in c9orf72 is an important cause of frontotemporal dementia with and without amyotrophic lateral sclerosis, and is sometimes associated with primary progressive aphasia. |
2012-04-09 |
2023-08-12 |
Not clear |
| Ging-Yuek R Hsiung, Mariely DeJesus-Hernandez, Howard H Feldman, Pheth Sengdy, Phoenix Bouchard-Kerr, Emily Dwosh, Rachel Butler, Bonnie Leung, Alice Fok, Nicola J Rutherford, Matt Baker, Rosa Rademakers, Ian R A Mackenzi. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22344582. |
clinical and pathological features of familial frontotemporal dementia caused by c9orf72 mutation on chromosome 9p. |
2012-04-09 |
2023-08-12 |
human |
| Ging-Yuek R Hsiung, Mariely DeJesus-Hernandez, Howard H Feldman, Pheth Sengdy, Phoenix Bouchard-Kerr, Emily Dwosh, Rachel Butler, Bonnie Leung, Alice Fok, Nicola J Rutherford, Matt Baker, Rosa Rademakers, Ian R A Mackenzi. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22344582. |
in the present study, we provide detailed analysis of the clinical features and neuropathology for 16 unrelated families with frontotemporal dementia caused by the c9orf72 mutation. |
2012-04-09 |
2023-08-12 |
human |
| Ging-Yuek R Hsiung, Mariely DeJesus-Hernandez, Howard H Feldman, Pheth Sengdy, Phoenix Bouchard-Kerr, Emily Dwosh, Rachel Butler, Bonnie Leung, Alice Fok, Nicola J Rutherford, Matt Baker, Rosa Rademakers, Ian R A Mackenzi. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22344582. |
our findings indicate that the c9orf72 mutation is a major cause of familial frontotemporal dementia with tdp-43 pathology, that likely accounts for the majority of families with combined frontotemporal dementia/amyotrophic lateral sclerosis presentation, and further support the concept that frontotemporal dementia and amyotrophic lateral sclerosis represent a clinicopathological spectrum of disease with overlapping molecular pathogenesis. |
2012-04-09 |
2023-08-12 |
human |
| John Hodge. Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366789. |
familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the c9orf72 hexanucleotide repeat. |
2012-04-09 |
2023-08-12 |
Not clear |
| Colin J Mahoney, Jon Beck, Jonathan D Rohrer, Tammaryn Lashley, Kin Mok, Tim Shakespeare, Tom Yeatman, Elizabeth K Warrington, Jonathan M Schott, Nick C Fox, Martin N Rossor, John Hardy, John Collinge, Tamas Revesz, Simon Mead, Jason D Warre. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366791. |
frontotemporal dementia with the c9orf72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. |
2012-04-09 |
2023-08-12 |
Not clear |
| Colin J Mahoney, Jon Beck, Jonathan D Rohrer, Tammaryn Lashley, Kin Mok, Tim Shakespeare, Tom Yeatman, Elizabeth K Warrington, Jonathan M Schott, Nick C Fox, Martin N Rossor, John Hardy, John Collinge, Tamas Revesz, Simon Mead, Jason D Warre. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366791. |
the most common presenting syndrome (comprising a half of cases) was behavioural variant frontotemporal dementia, however, there was substantial clinical heterogeneity across the c9orf72 mutation cohort. |
2012-04-09 |
2023-08-12 |
Not clear |
| Johnathan Cooper-Knock, Christopher Hewitt, J Robin Highley, Alice Brockington, Antonio Milano, Somai Man, Joanne Martindale, Judith Hartley, Theresa Walsh, Catherine Gelsthorpe, Lynne Baxter, Gillian Forster, Melanie Fox, Joanna Bury, Kin Mok, Christopher J McDermott, Bryan J Traynor, Janine Kirby, Stephen B Wharton, Paul G Ince, John Hardy, Pamela J Sha. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366792. |
intronic expansion of the ggggcc hexanucleotide repeat within the c9orf72 gene causes frontotemporal dementia and amyotrophic lateral sclerosis/motor neuron disease in both familial and sporadic cases. |
2012-04-09 |
2023-08-12 |
Not clear |
| Bradley F Boeve, Kevin B Boylan, Neill R Graff-Radford, Mariely DeJesus-Hernandez, David S Knopman, Otto Pedraza, Prashanthi Vemuri, David Jones, Val Lowe, Melissa E Murray, Dennis W Dickson, Keith A Josephs, Beth K Rush, Mary M Machulda, Julie A Fields, Tanis J Ferman, Matthew Baker, Nicola J Rutherford, Jennifer Adamson, Zbigniew K Wszolek, Anahita Adeli, Rodolfo Savica, Brendon Boot, Karen M Kuntz, Ralitza Gavrilova, Andrew Reeves, Jennifer Whitwell, Kejal Kantarci, Clifford R Jack, Joseph E Parisi, John A Lucas, Ronald C Petersen, Rosa Rademaker. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366793. |
characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the ggggcc repeat expansion in c9orf72. |
2012-04-09 |
2023-08-12 |
human |
| Adriano Chiò, Giuseppe Borghero, Gabriella Restagno, Gabriele Mora, Carsten Drepper, Bryan J Traynor, Michael Sendtner, Maura Brunetti, Irene Ossola, Andrea Calvo, Maura Pugliatti, Maria Alessandra Sotgiu, Maria Rita Murru, Maria Giovanna Marrosu, Francesco Marrosu, Kalliopi Marinou, Jessica Mandrioli, Patrizia Sola, Claudia Caponnetto, Gianluigi Mancardi, Paola Mandich, Vincenzo La Bella, Rossella Spataro, Amelia Conte, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Fabrizio Pisano, Ilaria Bartolomei, Fabrizio Salvi, Giuseppe Lauria Pinter, Isabella Simone, Giancarlo Logroscino, Antonio Gambardella, Aldo Quattrone, Christian Lunetta, Paolo Volanti, Marcella Zollino, Silvana Penco, Stefania Battistini, Alan E Renton, Elisa Majounie, Yevgeniya Abramzon, Francesca Luisa Conforti, Fabio Giannini, Massimo Corbo, Mario Sabatell. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366794. |
patients with c9orf72 hexanucleotide repeat expansions present some phenotypic differences compared with patients with mutations of other genes or with unknown mutations, namely a high incidence of bulbar-onset disease and comorbidity with frontotemporal dementia. |
2012-04-09 |
2023-08-12 |
Not clear |
| Jennifer L Whitwell, Stephen D Weigand, Bradley F Boeve, Matthew L Senjem, Jeffrey L Gunter, Mariely DeJesus-Hernandez, Nicola J Rutherford, Matthew Baker, David S Knopman, Zbigniew K Wszolek, Joseph E Parisi, Dennis W Dickson, Ronald C Petersen, Rosa Rademakers, Clifford R Jack, Keith A Joseph. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366795. |
neuroimaging signatures of frontotemporal dementia genetics: c9orf72, tau, progranulin and sporadics. |
2012-04-09 |
2023-08-12 |
human |
| Jennifer L Whitwell, Stephen D Weigand, Bradley F Boeve, Matthew L Senjem, Jeffrey L Gunter, Mariely DeJesus-Hernandez, Nicola J Rutherford, Matthew Baker, David S Knopman, Zbigniew K Wszolek, Joseph E Parisi, Dennis W Dickson, Ronald C Petersen, Rosa Rademakers, Clifford R Jack, Keith A Joseph. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366795. |
a major recent discovery was the identification of an expansion of a non-coding ggggcc hexanucleotide repeat in the c9orf72 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis. |
2012-04-09 |
2023-08-12 |
human |