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A novel CAPN1 mutation causes a pure hereditary spastic paraplegia in an Italian family
2019-01-01 Piccinelli, S. C.; Bassi, M. T.; Citterio, A.; Manganelli, F.; Tozza, S.; Santorelli, F. M.; Cassarino, S. G.; Caria, F.; Baldelli, E.; Galvagni, A.; Santoro, L.; Padovani, A.; Filosto, M.
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions
2017-01-01 Imbrici, P.; Altamura, C.; Gualandi, F.; Mangiatordi, G. F.; Neri, M.; De Maria, G.; Ferlini, A.; Padovani, A.; D'Adamo, M. C.; Nicolotti, O.; Pessia, M.; Conte, D.; Filosto, M.; Desaphy, J. -F.
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.
2016-01-01 Filosto, Massimiliano; Lanzi, Gaetana; Nesti, C; Vielmi, Valentina; Marchina, Eleonora; Galvagni, Anna; Giliani, Silvia Clara; Santorelli, Fm; Padovani, A.
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype
2015-01-01 Rinaldi, F.; Bassi, M. T.; Todeschini, A.; Rota, S.; Arnoldi, A.; Padovani, A.; Filosto, M.
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome
2019-01-01 Filosto, Massimiliano; COTTI PICCINELLI, Stefano; Palmieri, Ilaria; Necchini, Nicola; Valente, Marialuisa; Zanella, Isabella; Biasiotto, Giorgio; Lorenzo, Diego Di; Cereda, Cristina; Padovani, Alessandro
A Pan-European study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability and Intermediate Repeats.
2012-01-01 van der Zee, J.; Gijselinck, I.; Dillen, L.; Van Langenhove, T.; Theuns, J.; Engelborghs, S.; Philtjens, S.; Vandenbulcke, M.; Sleegers, K.; Sieben, A.; Bäumer, V.; Maes, G.; Corsmit, E.; Borroni, Barbara; Padovani, Alessandro; Archetti, S.; Perneczky, R.; Diehl Schmid, J.; de Mendonça, A.; Miltenberger Miltenyi, G.; Pereira, S.; Pimentel, J.; Nacmias, B.; Bagnoli, S.; Sorbi, S.; Graff, C.; Chiang, H. H.; Westerlund, M.; Sanchez Valle, R.; Llado, A.; Gelpi, E.; Santana, I.; Almeida, M. R.; Santiago, B.; Frisoni, G.; Zanetti, O.; Bonvicini, C.; Synofzik, M.; Maetzler, W.; Vom Hagen, J. M.; Schöls, L.; Heneka, M. T.; Jessen, F.; Matej, R.; Parobkova, E.; Kovacs, G. G.; Ströbel, T.; Sarafov, S.; Tournev, I.; Jordanova, A.; Danek, A.; Arzberger, T.; Fabrizi, G. M.; Testi, S.; Salmon, E.; Santens, P.; Martin, J. J.; Cras, P.; Vandenberghe, R.; De Deyn, P. P.; Cruts, M.; Van Broeckhoven, C.; on behalf of the European Early Onset Dementia, Consortium
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
2013-01-01 van der Zee, J; Gijselinck, I; Dillen, L; Van Langenhove, T; Theuns, J; Engelborghs, S; Philtjens, S; Vandenbulcke, M; Sleegers, K; Sieben, A; Bäumer, V; Maes, G; Corsmit, E; Borroni, Barbara; Padovani, Alessandro; Archetti, S; Perneczky, R; Diehl Schmid, J; de Mendonça, A; Miltenberger Miltenyi, G; Pereira, S; Pimentel, J; Nacmias, B; Bagnoli, S; Sorbi, S; Graff, C; Chiang, Hh; Westerlund, M; Sanchez Valle, R; Llado, A; Gelpi, E; Santana, I; Almeida, Mr; Santiago, B; Frisoni, G; Zanetti, O; Bonvicini, C; Synofzik, M; Maetzler, W; Vom Hagen, Jm; Schöls, L; Heneka, Mt; Jessen, F; Matej, R; Parobkova, E; Kovacs, Gg; Ströbel, T; Sarafov, S; Tournev, I; Jordanova, A; Danek, A; Arzberger, T; Fabrizi, Gm; Testi, S; Salmon, E; Santens, P; Martin, Jj; Cras, P; Vandenberghe, R; De Deyn, Pp; Cruts, M; Van Broeckhoven, C; van der Zee, J; Gijselinck, I; Dillen, L; Van Langenhove, T; Theuns, J; Philtjens, S; Sleegers, K; Bäumer, V; Maes, G; Corsmit, E; Cruts, M; Van Broeckhoven, C; van der Zee, J; Gijselinck, I; Dillen, L; Van Langenhove, T; Philtjens, S; Theuns, J; Sleegers, K; Bäumer, V; Maes, G; Cruts, M; Van Broeckhoven, C.
A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study
2021-01-01 Bergström, S; Öijerstedt, L; Remnestål, J; Olofsson, J; Ullgren, A; Seelaar, H; van Swieten JC, ; Synofzik, M; Sanchez-Valle, R; Moreno, F; Finger, E; Masellis, M; Tartaglia, C; Vandenberghe, R; Laforce, R; Galimberti, D; Borroni, B; Butler, Cr; Gerhard, A; Ducharme, S; Rohrer, Jd; Månberg, A; Graff, C; Nilsson, P; Lize, Jiskoot; James, B Rowe; Alexandre de Mendonça, ; Tagliavini, Fabrizio; Isabel, Santana; Isabelle Le Ber, ; Johannes, Levin; Adrian, Danek; Markus, Otto; Giovanni, Frisoni; Ghidoni, Roberta; Sandro, Sorbi; Florence, Pasquier; Vesna, Jelic; Christin, Andersson; Sónia, Afonso; Maria Rosario Almeida, ; Sarah, Anderl-Straub; Anna, Antonell; Silvana, Archetti; Andrea, Arighi; Mircea, Balasa; Myriam, Barandiaran; Nuria, Bargalló; Robart, Bartha; Benjamin, Bender; Benussi, Alberto; Luisa, Benussi; Valentina, Bessi; Giuliano, Binetti; Sandra, Black; Bocchetta, Martina; Sergi, Borrego-Ecija; Jose, Bras; Rose, Bruffaerts; Marta, Cañada; Cantoni, Valentina; Paola, Caroppo; David, Cash; Miguel, Castelo-Branco; Rhian, Convery; Thomas, Cope; Giuseppe Di Fede, ; Alina, Díez; Diana, Duro; Chiara, Fenoglio; Ferrari, Camilla; Catarina, B Ferreira; Nick, Fox; Morris, Freedman; Fumagalli, Giorgio; Alazne, Gabilondo; Gasparotti, Roberto; Serge, Gauthier; Gazzina, Stefano; Giorgio, Giaccone; Ana, Gorostidi; Caroline, Greaves; Rita, Guerreiro; Carolin, Heller; Tobias, Hoegen; Begoña, Indakoetxea; Lize, Jiskoot; Hans-Otto, Karnath; Ron, Keren; Tobias, Langheinrich; Maria João Leitão, ; Albert, Lladó; Gemma, Lombardi; Sandra, Loosli; Carolina, Maruta; Simon, Mead; Lieke, Meeter; Gabriel, Miltenberger; Rick van Minkelen, ; Sara, Mitchell; Katrina, Moore; Benedetta, Nacmias; Jennifer, Nicholas; Jaume, Olives; Sebastien, Ourselin; Padovani, Alessandro; Jessica, Panman; Janne, M Papma; Georgia, Peakman; Pievani, Michela; Yolande, Pijnenburg; Cristina, Polito; Premi, Enrico; Sara, Prioni; Catharina, Prix; Rosa, Rademakers; Veronica, Redaelli; Tim, Rittman; Ekaterina, Rogaeva; Pedro, Rosa-Neto; Giacomina, Rossi; Martin, Rosser; Beatriz, Santiago; Elio, Scarpini; Sonja, Schönecker; Elisa, Semler; Rachelle, Shafei; Christen, Shoesmith; Miguel, Tábuas-Pereira; Mikel, Tainta; Ricardo, Taipa; David, Tang-Wai; David, L Thomas; Paul, Thompson; Håkan, Thonberg; Carolyn, Timberlake; Pietro, Tiraboschi; Emily, Todd; Philip Van Damme, ; Mathieu, Vandenbulcke; Michele, Veldsman; Ana, Verdelho; Jorge, Villanua; Jason, Warren; Carlo, Wilke; Ione, Woollacott; Elisabeth, Wlasich; Henrik, Zetterberg; Miren, Zulaica
A PCR-based protocol to accurately size C9orf72 intermediate-length alleles.
2017-01-01 Biasiotto, Giorgio; Archetti, S; Di Lorenzo, D; Merola, F; Paiardi, G; Borroni, Barbara; Alberici, A; Padovani, Alessandro; Filosto, M; Bonvicini, C; Caimi, Luigi; Zanella, Isabella
A very slowly progressive neurogenic man-in-the-barrel syndrome
2015-01-01 Rinaldi, F.; Todeschini, A.; Rota, S.; Pari, E.; Padovani, A.; Filosto, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel CAPN1 mutation causes a pure hereditary spastic paraplegia in an Italian family | 1-gen-2019 | Piccinelli, S. C.; Bassi, M. T.; Citterio, A.; Manganelli, F.; Tozza, S.; Santorelli, F. M.; Cassarino, S. G.; Caria, F.; Baldelli, E.; Galvagni, A.; Santoro, L.; Padovani, A.; Filosto, M. | |
| A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions | 1-gen-2017 | Imbrici, P.; Altamura, C.; Gualandi, F.; Mangiatordi, G. F.; Neri, M.; De Maria, G.; Ferlini, A.; Padovani, A.; D'Adamo, M. C.; Nicolotti, O.; Pessia, M.; Conte, D.; Filosto, M.; Desaphy, J. -F. | |
| A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. | 1-gen-2016 | Filosto, Massimiliano; Lanzi, Gaetana; Nesti, C; Vielmi, Valentina; Marchina, Eleonora; Galvagni, Anna; Giliani, Silvia Clara; Santorelli, Fm; Padovani, A. | |
| A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype | 1-gen-2015 | Rinaldi, F.; Bassi, M. T.; Todeschini, A.; Rota, S.; Arnoldi, A.; Padovani, A.; Filosto, M. | |
| A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome | 1-gen-2019 | Filosto, Massimiliano; COTTI PICCINELLI, Stefano; Palmieri, Ilaria; Necchini, Nicola; Valente, Marialuisa; Zanella, Isabella; Biasiotto, Giorgio; Lorenzo, Diego Di; Cereda, Cristina; Padovani, Alessandro | |
| A Pan-European study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability and Intermediate Repeats. | 1-gen-2012 | van der Zee, J.; Gijselinck, I.; Dillen, L.; Van Langenhove, T.; Theuns, J.; Engelborghs, S.; Philtjens, S.; Vandenbulcke, M.; Sleegers, K.; Sieben, A.; Bäumer, V.; Maes, G.; Corsmit, E.; Borroni, Barbara; Padovani, Alessandro; Archetti, S.; Perneczky, R.; Diehl Schmid, J.; de Mendonça, A.; Miltenberger Miltenyi, G.; Pereira, S.; Pimentel, J.; Nacmias, B.; Bagnoli, S.; Sorbi, S.; Graff, C.; Chiang, H. H.; Westerlund, M.; Sanchez Valle, R.; Llado, A.; Gelpi, E.; Santana, I.; Almeida, M. R.; Santiago, B.; Frisoni, G.; Zanetti, O.; Bonvicini, C.; Synofzik, M.; Maetzler, W.; Vom Hagen, J. M.; Schöls, L.; Heneka, M. T.; Jessen, F.; Matej, R.; Parobkova, E.; Kovacs, G. G.; Ströbel, T.; Sarafov, S.; Tournev, I.; Jordanova, A.; Danek, A.; Arzberger, T.; Fabrizi, G. M.; Testi, S.; Salmon, E.; Santens, P.; Martin, J. J.; Cras, P.; Vandenberghe, R.; De Deyn, P. P.; Cruts, M.; Van Broeckhoven, C.; on behalf of the European Early Onset Dementia, Consortium | |
| A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. | 1-gen-2013 | van der Zee, J; Gijselinck, I; Dillen, L; Van Langenhove, T; Theuns, J; Engelborghs, S; Philtjens, S; Vandenbulcke, M; Sleegers, K; Sieben, A; Bäumer, V; Maes, G; Corsmit, E; Borroni, Barbara; Padovani, Alessandro; Archetti, S; Perneczky, R; Diehl Schmid, J; de Mendonça, A; Miltenberger Miltenyi, G; Pereira, S; Pimentel, J; Nacmias, B; Bagnoli, S; Sorbi, S; Graff, C; Chiang, Hh; Westerlund, M; Sanchez Valle, R; Llado, A; Gelpi, E; Santana, I; Almeida, Mr; Santiago, B; Frisoni, G; Zanetti, O; Bonvicini, C; Synofzik, M; Maetzler, W; Vom Hagen, Jm; Schöls, L; Heneka, Mt; Jessen, F; Matej, R; Parobkova, E; Kovacs, Gg; Ströbel, T; Sarafov, S; Tournev, I; Jordanova, A; Danek, A; Arzberger, T; Fabrizi, Gm; Testi, S; Salmon, E; Santens, P; Martin, Jj; Cras, P; Vandenberghe, R; De Deyn, Pp; Cruts, M; Van Broeckhoven, C; van der Zee, J; Gijselinck, I; Dillen, L; Van Langenhove, T; Theuns, J; Philtjens, S; Sleegers, K; Bäumer, V; Maes, G; Corsmit, E; Cruts, M; Van Broeckhoven, C; van der Zee, J; Gijselinck, I; Dillen, L; Van Langenhove, T; Philtjens, S; Theuns, J; Sleegers, K; Bäumer, V; Maes, G; Cruts, M; Van Broeckhoven, C. | |
| A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study | 1-gen-2021 | Bergström, S; Öijerstedt, L; Remnestål, J; Olofsson, J; Ullgren, A; Seelaar, H; van Swieten JC, ; Synofzik, M; Sanchez-Valle, R; Moreno, F; Finger, E; Masellis, M; Tartaglia, C; Vandenberghe, R; Laforce, R; Galimberti, D; Borroni, B; Butler, Cr; Gerhard, A; Ducharme, S; Rohrer, Jd; Månberg, A; Graff, C; Nilsson, P; Lize, Jiskoot; James, B Rowe; Alexandre de Mendonça, ; Tagliavini, Fabrizio; Isabel, Santana; Isabelle Le Ber, ; Johannes, Levin; Adrian, Danek; Markus, Otto; Giovanni, Frisoni; Ghidoni, Roberta; Sandro, Sorbi; Florence, Pasquier; Vesna, Jelic; Christin, Andersson; Sónia, Afonso; Maria Rosario Almeida, ; Sarah, Anderl-Straub; Anna, Antonell; Silvana, Archetti; Andrea, Arighi; Mircea, Balasa; Myriam, Barandiaran; Nuria, Bargalló; Robart, Bartha; Benjamin, Bender; Benussi, Alberto; Luisa, Benussi; Valentina, Bessi; Giuliano, Binetti; Sandra, Black; Bocchetta, Martina; Sergi, Borrego-Ecija; Jose, Bras; Rose, Bruffaerts; Marta, Cañada; Cantoni, Valentina; Paola, Caroppo; David, Cash; Miguel, Castelo-Branco; Rhian, Convery; Thomas, Cope; Giuseppe Di Fede, ; Alina, Díez; Diana, Duro; Chiara, Fenoglio; Ferrari, Camilla; Catarina, B Ferreira; Nick, Fox; Morris, Freedman; Fumagalli, Giorgio; Alazne, Gabilondo; Gasparotti, Roberto; Serge, Gauthier; Gazzina, Stefano; Giorgio, Giaccone; Ana, Gorostidi; Caroline, Greaves; Rita, Guerreiro; Carolin, Heller; Tobias, Hoegen; Begoña, Indakoetxea; Lize, Jiskoot; Hans-Otto, Karnath; Ron, Keren; Tobias, Langheinrich; Maria João Leitão, ; Albert, Lladó; Gemma, Lombardi; Sandra, Loosli; Carolina, Maruta; Simon, Mead; Lieke, Meeter; Gabriel, Miltenberger; Rick van Minkelen, ; Sara, Mitchell; Katrina, Moore; Benedetta, Nacmias; Jennifer, Nicholas; Jaume, Olives; Sebastien, Ourselin; Padovani, Alessandro; Jessica, Panman; Janne, M Papma; Georgia, Peakman; Pievani, Michela; Yolande, Pijnenburg; Cristina, Polito; Premi, Enrico; Sara, Prioni; Catharina, Prix; Rosa, Rademakers; Veronica, Redaelli; Tim, Rittman; Ekaterina, Rogaeva; Pedro, Rosa-Neto; Giacomina, Rossi; Martin, Rosser; Beatriz, Santiago; Elio, Scarpini; Sonja, Schönecker; Elisa, Semler; Rachelle, Shafei; Christen, Shoesmith; Miguel, Tábuas-Pereira; Mikel, Tainta; Ricardo, Taipa; David, Tang-Wai; David, L Thomas; Paul, Thompson; Håkan, Thonberg; Carolyn, Timberlake; Pietro, Tiraboschi; Emily, Todd; Philip Van Damme, ; Mathieu, Vandenbulcke; Michele, Veldsman; Ana, Verdelho; Jorge, Villanua; Jason, Warren; Carlo, Wilke; Ione, Woollacott; Elisabeth, Wlasich; Henrik, Zetterberg; Miren, Zulaica | |
| A PCR-based protocol to accurately size C9orf72 intermediate-length alleles. | 1-gen-2017 | Biasiotto, Giorgio; Archetti, S; Di Lorenzo, D; Merola, F; Paiardi, G; Borroni, Barbara; Alberici, A; Padovani, Alessandro; Filosto, M; Bonvicini, C; Caimi, Luigi; Zanella, Isabella | |
| A very slowly progressive neurogenic man-in-the-barrel syndrome | 1-gen-2015 | Rinaldi, F.; Todeschini, A.; Rota, S.; Pari, E.; Padovani, A.; Filosto, M. |
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Tipologia
- 1 Contributo su Rivista 760
- 1 Contributo su Rivista::1.1 Arti... 703
- 1 Contributo su Rivista::1.5 Abst... 56
- 1 Contributo su Rivista::1.3 Sche... 1
Data di pubblicazione
- 2020 - 2024 149
- 2010 - 2019 352
- 2000 - 2009 241
- 1991 - 1999 18
Editore
- Springer Verlag Germany:Tiergarte... 5
- Lippincott, Williams & Wilkins:53... 4
- American Medical Association:515 ... 3
- Bentham Science Publishers BV:PO ... 3
- Elsevier Science Incorporated / N... 3
- [London]: BioMed Central. 2
- Academic Press Incorporated:6277 ... 2
- CAMBRIDGE UNIV PRESS, 40 WEST 20T... 2
- editore attuale: LIPPINCOTT WILL... 2
- Elsevier BV:PO Box 211, 1000 AE A... 2
Rivista
- NEUROLOGICAL SCIENCES 39
- NEUROLOGY 36
- NEUROBIOLOGY OF AGING 32
- JOURNAL OF ALZHEIMER'S DISEASE 31
- JOURNAL OF NEUROLOGY 28
- JOURNAL OF NEUROLOGY, NEUROSURGER... 26
- EUROPEAN JOURNAL OF NEUROLOGY 25
- STROKE 22
- ARCHIVES OF NEUROLOGY 13
- PARKINSONISM & RELATED DISORDERS 13
Keyword
- Humans 46
- Neurology (clinical) 29
- Male 25
- Female 24
- Aged 23
- COVID-19 22
- Alzheimer disease 19
- Alzheimer Disease 18
- stroke 16
- 80 and over 15
Lingua
- eng 679
- ita 5
- enm 1
Accesso al fulltext
- no fulltext 654
- reserved 50
- open 43
- restricted 12
- embargoed 1