Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view [version 1; peer review: 3 approved] von Coarelli, Giulia, Brice, Alexis, Durr, Alexandra

Volltext

Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia von Coarelli, Giulia, Darios, Frederic, Petit, Emilien, Dorgham, Karim, Adanyeguh, Isaac, Petit, Elodie, Brice, Alexis, Mochel, Fanny, Durr, Alexandra

Volltext

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial von Romano, Silvia, MD, Coarelli, Giulia, MD, Marcotulli, Christian, MD, Leonardi, Luca, MD, Piccolo, Francesca, MD, Spadaro, Maria, MD, Frontali, Marina, MD, Ferraldeschi, Michela, MD, Vulpiani, Maria Chiara, MD, Ponzelli, Federica, BPT, Salvetti, Marco, Dr, Orzi, Francesco, MD, Petrucci, Antonio, MD, Vanacore, Nicola, MD, Casali, Carlo, MD, Ristori, Giovanni, Dr

Volltext

Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades von Pierron, Lucie, Hennessy, Juliette, Tezenas du Montcel, Sophie, Coarelli, Giulia, Heinzmann, Anna, Schaerer, Elodie, Herson, Ariane, Petit, Elodie, Gargiulo, Marcela, Durr, Alexandra

Volltext

Low cancer prevalence in polyglutamine expansion diseases von Coarelli, Giulia, Diallo, Alhassane, Thion, Morgane Sonia, Rinaldi, Daisy, Calvas, Fabienne, Boukbiza, Ouahid Lagha, Tataru, Alina, Charles, Perrine, Tranchant, Christine, Marelli, Cecilia, Ewenczyk, Claire, Tchikviladzé, Maya, Monin, Marie-Lorraine, Carlander, Bertrand, Anheim, Mathieu, Brice, Alexis, Mochel, Fanny, Tezenas du Montcel, Sophie, Humbert, Sandrine, Durr, Alexandra

Volltext

Autosomal dominant cerebellar ataxias: new genes and progress towards treatments von Coarelli, Giulia, Coutelier, Marie, Durr, Alexandra

Volltext

Inflammation and acute cardiotoxicity in adult hematological patients treated with CAR-T cells: results from a pilot proof-of-concept study von Camilli, Massimiliano, Viscovo, Marcello, Felici, Tamara, Maggio, Luca, Ballacci, Federico, Carella, Giacomo, Bonanni, Alice, Lamendola, Priscilla, Tinti, Lorenzo, Di Renzo, Antonio, Coarelli, Giulia, Galli, Eugenio, Liuzzo, Giovanna, Burzotta, Francesco, Montone, Rocco Antonio, Sorà, Federica, Sica, Simona, Hohaus, Stefan, Lanza, Gaetano Antonio, Crea, Filippo, Lombardo, Antonella, Minotti, Giorgio

Volltext

Effects of Bacille Calmette-Guérin after the first demyelinating event in the CNS von RISTORI, Giovanni, ROMANO, Silvia, GASPERINI, Claudio, FRONTONI, Marco, COARELLI, Giulia, CAPUTO, Domenico, BRESCIAMORRA, Vincenzo, VANACORE, Nicola, POZZILLI, Carlo, SALVETTI, Marco, CANNONI, Stefania, VISCONTI, Andrea, TINELLI, Emanuele, MENDOZZI, Laura, CECCONI, Pietro, LANZILLO, Roberta, QUARANTELLI, Mario, BUTTINELLI, Carla

Volltext

Hereditary ataxias and paraparesias: clinical and genetic update von Parodi, Livia, Coarelli, Giulia, Stevanin, Giovanni, Brice, Alexis, Durr, Alexandra

Volltext

Genetics in hereditary spastic paraplegias: Essential but not enough von Darios, Frédéric, Coarelli, Giulia, Durr, Alexandra

Volltext

The inherited cerebellar ataxias: an update von Coarelli, Giulia, Wirth, Thomas, Tranchant, Christine, Koenig, Michel, Durr, Alexandra, Anheim, Mathieu

Volltext

Two RFC1 splicing variants in CANVAS von Weber, Sacha, Coarelli, Giulia, Heinzmann, Anna, Monin, Marie-Lorraine, Richard, Nicolas, Gerard, Marion, Durr, Alexandra, Huin, Vincent

Volltext

Identification de biomarqueurs dans les ataxies spinocérébelleuses. Évaluation multimodale du cervelet von Coarelli, Giulia

Volltext bestellen

Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis von Lallemant-Dudek, Pauline, Parodi, Livia, Coarelli, Giulia, Heinzmann, Anna, Charles, Perrine, Ewenczyk, Claire, Fenu, Silvia, Monin, Marie-Lorraine, Corcia, Philippe, Depienne, Christel, Mochel, Fanny, Benard, Jean, Tezenas du Montcel, Sophie, Durr, Alexandra

Volltext

Questioning the causality of HTT CAG-repeat expansions in FTD/ALS: Response to Dewan et al., short HTT CAG-repeat expansions cause Huntington's disease with frontotemporal dementia... von Thomas, Quentin, Coarelli, Giulia, Heinzmann, Anna, Le Ber, Isabelle, del Mar Amador, Maria, Durr, Alexandra

Volltext

Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex von Crow, Yanick J.

Volltext

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex von Parodi, Livia, Fenu, Silvia, Barbier, Mathieu, Banneau, Guillaume, Duyckaerts, Charles, Tezenas du Montcel, Sophie, Monin, Marie-Lorraine, Ait Said, Samia, Guegan, Justine, Tallaksen, Chantal M E, Sablonniere, Bertrand, Brice, Alexis, Stevanin, Giovanni, Depienne, Christel, Durr, Alexandra

Volltext

Motor neuron pathology in CANVAS due to RFC1 expansions von Huin, Vincent, Coarelli, Giulia, Guemy, Clément, Boluda, Susana, Debs, Rabab, Mochel, Fanny, Stojkovic, Tanya, Grabli, David, Maisonobe, Thierry, Gaymard, Bertrand, Lenglet, Timothée, Tard, Céline, Davion, Jean-Baptiste, Sablonnière, Bernard, Monin, Marie-Lorraine, Ewenczyk, Claire, Viala, Karine, Charles, Perrine, Le Ber, Isabelle, Reilly, Mary M, Houlden, Henry, Cortese, Andrea, Seilhean, Danielle, Brice, Alexis, Durr, Alexandra

Volltext

Effects of Bacille Calmette-Guérin after the first demyelinating event in the CNS von Ristori, Giovanni, Romano, Silvia, Cannoni, Stefania, Visconti, Andrea, Tinelli, Emanuele, Mendozzi, Laura, Cecconi, Pietro, Lanzillo, Roberta, Quarantelli, Mario, Buttinelli, Carla, Gasperini, Claudio, Frontoni, Marco, Coarelli, Giulia, Caputo, Domenico, Bresciamorra, Vincenzo, Vanacore, Nicola, Pozzilli, Carlo, Salvetti, Marco

Volltext

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies von Coutelier, Marie, Coarelli, Giulia, Monin, Marie-Lorraine, Konop, Juliette, Davoine, Claire-Sophie, Tesson, Christelle, Valter, Rémi, Anheim, Mathieu, Behin, Anthony, Castelnovo, Giovanni, Charles, Perrine, David, Albert, Ewenczyk, Claire, Fradin, Mélanie, Goizet, Cyril, Hannequin, Didier, Labauge, Pierre, Riant, Florence, Sarda, Pierre, Sznajer, Yves, Tison, François, Ullmann, Urielle, Van Maldergem, Lionel, Mochel, Fanny, Brice, Alexis, Stevanin, Giovanni, Durr, Alexandra

Volltext