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Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey
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Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Coratti, Giorgia ; Ricci, Martina ; Capasso, Anna ; D'amico, Adele ; Sansone, Valeria ; Bruno, Claudio ; Messina, Sonia ; Ricci, Federica ; Mongini, Tiziana ; Coccia, Michela ; Siciliano, Gabriele ; Pegoraro, Elena ; Turri, Mara ; Filosto, Massimiliano ; Comi, Giacomo ; Masson, Riccardo ; Maggi, Lorenzo ; Bruno, Irene ; D'Angelo, Maria Grazia ; Trabacca, Antonio ; Vacchiano, Veria ; Donati, Maria ; Simone, Isabella ; Ruggiero, Lucia ; Varone, Antonio ; Verriello, Lorenzo ; Berardinelli, Angela ; Agosto, Caterina ; Pini, Antonella ; Maioli, Maria Antonietta ; Passamano, Luigia ; Brighina, Filippo ; Carboni, Nicola ; Garibaldi, Matteo ; Zuccarino, Riccardo ; Gagliardi, Delio ; Siliquini, Sabrina ; Previtali, Stefano ; Taruscio, Domenica ; Boccia, Stefania ; Pera, Maria Carmela ; Pane, Marika ; Mercuri, Eugenio

Neurology, 2023-03, Vol.100 (11), p.522-528 [Periódico revisado por pares]

United States: Lippincott Williams & Wilkins

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2
Bridging the Gap: Gene Therapy in a Patient With Spinal Muscular Atrophy Type 1
Bridging the Gap: Gene Therapy in a Patient With Spinal Muscular Atrophy Type 1
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Bridging the Gap: Gene Therapy in a Patient With Spinal Muscular Atrophy Type 1

Costamagna, Gianluca ; Govoni, Alessandra ; Wise, Adina ; Corti, Stefania

Neurology, 2022-11, Vol.99 (21), p.952-956 [Periódico revisado por pares]

United States

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3
Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia
Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia
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Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia

Wadman, Renske I ; van Bruggen, H Willemijn ; Witkamp, Theo D ; Sparreboom-Kalaykova, Stanimira I ; Stam, Marloes ; van den Berg, Leonard H ; Steenks, Michel H ; van der Pol, W Ludo

Neurology, 2014-09, Vol.83 (12), p.1060-1066 [Periódico revisado por pares]

United States: American Academy of Neurology

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4
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
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Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Traschütz, Andreas ; Cortese, Andrea ; Reich, Selina ; Dominik, Natalia ; Faber, Jennifer ; Jacobi, Heike ; Hartmann, Annette M ; Rujescu, Dan ; Montaut, Solveig ; Echaniz-Laguna, Andoni ; Erer, Sevda ; Schütz, Valerie Cornelia ; Tarnutzer, Alexander A ; Sturm, Marc ; Haack, Tobias B ; Vaucamps-Diedhiou, Nadège ; Puccio, Helene ; Schöls, Ludger ; Klockgether, Thomas ; van de Warrenburg, Bart P ; Paucar, Martin ; Timmann, Dagmar ; Hilgers, Ralf-Dieter ; Gazulla, Jose ; Strupp, Michael ; Moris, German ; Filla, Alessandro ; Houlden, Henry ; Anheim, Mathieu ; Infante, Jon ; Basak, A Nazli ; Synofzik, Matthis

Neurology, 2021-03, Vol.96 (9), p.e1369-e1382 [Periódico revisado por pares]

United States: American Academy of Neurology

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5
Early stridor onset and stridor treatment predict survival in 136 patients with MSA
Early stridor onset and stridor treatment predict survival in 136 patients with MSA
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Early stridor onset and stridor treatment predict survival in 136 patients with MSA

Giannini, Giulia ; Calandra-Buonaura, Giovanna ; Mastrolilli, Francesca ; Righini, Matteo ; Bacchi-Reggiani, Maria Letizia ; Cecere, Annagrazia ; Barletta, Giorgio ; Guaraldi, Pietro ; Provini, Federica ; Cortelli, Pietro

Neurology, 2016-09, Vol.87 (13), p.1375-1383 [Periódico revisado por pares]

United States: American Academy of Neurology

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6
Stridor in multiple system atrophy: Consensus statement on diagnosis, prognosis, and treatment
Stridor in multiple system atrophy: Consensus statement on diagnosis, prognosis, and treatment
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Stridor in multiple system atrophy: Consensus statement on diagnosis, prognosis, and treatment

Cortelli, Pietro ; Calandra-Buonaura, Giovanna ; Benarroch, Eduardo E ; Giannini, Giulia ; Iranzo, Alex ; Low, Phillip A ; Martinelli, Paolo ; Provini, Federica ; Quinn, Niall ; Tolosa, Eduardo ; Wenning, Gregor K ; Abbruzzese, Giovanni ; Bower, Pamela ; Alfonsi, Enrico ; Ghorayeb, Imad ; Ozawa, Tetsutaro ; Pacchetti, Claudio ; Pozzi, Nicolò Gabriele ; Vicini, Claudio ; Antonini, Angelo ; Bhatia, Kailash P ; Bonavita, Jacopo ; Kaufmann, Horacio ; Pellecchia, Maria Teresa ; Pizzorni, Nicole ; Schindler, Antonio ; Tison, François ; Vignatelli, Luca ; Meissner, Wassilios G

Neurology, 2019-10, Vol.93 (14), p.630-639 [Periódico revisado por pares]

United States: American Academy of Neurology

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7
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years
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Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years

Lee, Bo Hoon ; Deng, Stella ; Chiriboga, Claudia A ; Kay, Denise M ; Irumudomon, Obehioya ; Laureta, Emma ; Delfiner, Leslie ; Treidler, Simona O ; Anziska, Yaacov ; Sakonju, Ai ; Kois, Chelsea ; Farooq, Osman ; Engelstad, Kristin ; Laurenzano, Alexandra ; Hogan, Katherine ; Caggana, Michele ; Saavedra-Matiz, Carlos A ; Stevens, Colleen F ; Ciafaloni, Emma

Neurology, 2022-10, Vol.99 (14), p.e1527-e1537 [Periódico revisado por pares]

United States: Lippincott Williams & Wilkins

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8
Alzheimer disease brain atrophy subtypes are associated with cognition and rate of decline
Alzheimer disease brain atrophy subtypes are associated with cognition and rate of decline
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Alzheimer disease brain atrophy subtypes are associated with cognition and rate of decline

Risacher, Shannon L ; Anderson, Wesley H ; Charil, Arnaud ; Castelluccio, Peter F ; Shcherbinin, Sergey ; Saykin, Andrew J ; Schwarz, Adam J

Neurology, 2017-11, Vol.89 (21), p.2176-2186 [Periódico revisado por pares]

United States: Lippincott Williams & Wilkins

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9
Intrathecal administration of autologous mesenchymal stem cells in multiple system atrophy
Intrathecal administration of autologous mesenchymal stem cells in multiple system atrophy
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Intrathecal administration of autologous mesenchymal stem cells in multiple system atrophy

Singer, Wolfgang ; Dietz, Allan B ; Zeller, Anita D ; Gehrking, Tonette L ; Schmelzer, James D ; Schmeichel, Ann M ; Gehrking, Jade A ; Suarez, Mariana D ; Sletten, David M ; Minota Pacheco, Karla V ; Coon, Elizabeth A ; Sandroni, Paola ; Benarroch, Eduardo E ; Fealey, Robert D ; Matsumoto, Joseph Y ; Bower, James H ; Hassan, Anhar ; McKeon, Andrew ; Windebank, Anthony J ; Mandrekar, Jay N ; Low, Phillip A

Neurology, 2019-07, Vol.93 (1), p.e77-e87 [Periódico revisado por pares]

United States: American Academy of Neurology

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10
A genome-wide association study in multiple system atrophy
A genome-wide association study in multiple system atrophy
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A genome-wide association study in multiple system atrophy

Sailer, Anna ; Scholz, Sonja W ; Nalls, Michael A ; Schulte, Claudia ; Federoff, Monica ; Price, T Ryan ; Lees, Andrew ; Ross, Owen A ; Dickson, Dennis W ; Mok, Kin ; Mencacci, Niccolo E ; Schottlaender, Lucia ; Chelban, Viorica ; Ling, Helen ; OʼSullivan, Sean S ; Wood, Nicholas W ; Traynor, Bryan J ; Ferrucci, Luigi ; Federoff, Howard J ; Mhyre, Timothy R ; Morris, Huw R ; Deuschl, Günther ; Quinn, Niall ; Widner, Hakan ; Albanese, Alberto ; Infante, Jon ; Bhatia, Kailash P ; Poewe, Werner ; Oertel, Wolfgang ; Höglinger, Günter U ; Wüllner, Ullrich ; Goldwurm, Stefano ; Pellecchia, Maria Teresa ; Ferreira, Joaquim ; Tolosa, Eduardo ; Bloem, Bastiaan R ; Rascol, Olivier ; Meissner, Wassilios G ; Hardy, John A ; Revesz, Tamas ; Holton, Janice L ; Gasser, Thomas ; Wenning, Gregor K ; Singleton, Andrew B ; Houlden, Henry

Neurology, 2016-10, Vol.87 (15), p.1591-1598 [Periódico revisado por pares]

United States: American Academy of Neurology

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