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1
Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalities
Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalities
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Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalities

Srivanitchapoom, Prachaya ; Hallett, Mark

Journal of Neurology, Neurosurgery and Psychiatry, 2016-01, Vol.87 (1), p.75-85 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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2
Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy
Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy
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Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

Hammond, Suzan M. ; Hazell, Gareth ; Shabanpoor, Fazel ; Saleh, Amer F. ; Bowerman, Melissa ; Sleigh, James N. ; Meijboom, Katharina E. ; Zhou, Haiyan ; Muntoni, Francesco ; Talbot, Kevin ; Gait, Michael J. ; Wood, Matthew J. A.

Proceedings of the National Academy of Sciences - PNAS, 2016-09, Vol.113 (39), p.10962-10967 [Periódico revisado por pares]

United States: National Academy of Sciences

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3
Mechanistic studies of a small-molecule modulator of SMN2 splicing
Mechanistic studies of a small-molecule modulator of SMN2 splicing
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Mechanistic studies of a small-molecule modulator of SMN2 splicing

Wang, Jingxin ; Schultz, Peter G. ; Johnson, Kristen A.

Proceedings of the National Academy of Sciences - PNAS, 2018-05, Vol.115 (20), p.E4604-E4612 [Periódico revisado por pares]

United States: National Academy of Sciences

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4
Differentiating lower motor neuron syndromes
Differentiating lower motor neuron syndromes
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Differentiating lower motor neuron syndromes

Garg, Nidhi ; Park, Susanna B ; Vucic, Steve ; Yiannikas, Con ; Spies, Judy ; Howells, James ; Huynh, William ; Matamala, José M ; Krishnan, Arun V ; Pollard, John D ; Cornblath, David R ; Reilly, Mary M ; Kiernan, Matthew C

Journal of Neurology, Neurosurgery and Psychiatry, 2017-06, Vol.88 (6), p.474-483 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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5
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns
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RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

Doktor, Thomas Koed ; Hua, Yimin ; Andersen, Henriette Skovgaard ; Brøner, Sabrina ; Liu, Ying Hsiu ; Wieckowska, Anna ; Dembic, Maja ; Bruun, Gitte Hoffmann ; Krainer, Adrian R ; Andresen, Brage Storstein

Nucleic acids research, 2017-01, Vol.45 (1), p.395-416 [Periódico revisado por pares]

England: Oxford University Press

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6
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Neveling, Kornelia ; Martinez-Carrera, Lilian A. ; Hölker, Irmgard ; Heister, Angelien ; Verrips, Aad ; Hosseini-Barkooie, Seyyed Mohsen ; Gilissen, Christian ; Vermeer, Sascha ; Pennings, Maartje ; Meijer, Rowdy ; te Riele, Margot ; Frijns, Catharina J.M. ; Suchowersky, Oksana ; MacLaren, Linda ; Rudnik-Schöneborn, Sabine ; Sinke, Richard J. ; Zerres, Klaus ; Lowry, R. Brian ; Lemmink, Henny H. ; Garbes, Lutz ; Veltman, Joris A. ; Schelhaas, Helenius J. ; Scheffer, Hans ; Wirth, Brunhilde

American journal of human genetics, 2013-06, Vol.92 (6), p.946-954 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin
Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin
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Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin

Huynh, Walter ; Vale, Ronald D

The Journal of cell biology, 2017-10, Vol.216 (10), p.3051-3060 [Periódico revisado por pares]

United States: Rockefeller University Press

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8
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
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Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

Zhang, Zhenxi ; Pinto, Anna Maria ; Wan, Lili ; Wang, Wei ; Berg, Michael G. ; Oliva, Isabela ; Singh, Larry N. ; Dengler, Christopher ; Wei, Zhi ; Dreyfuss, Gideon

Proceedings of the National Academy of Sciences - PNAS, 2013-11, Vol.110 (48), p.19348-19353 [Periódico revisado por pares]

United States: National Academy of Sciences

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9
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype
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The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

Hosseinibarkooie, Seyyedmohsen ; Peters, Miriam ; Torres-Benito, Laura ; Rastetter, Raphael H. ; Hupperich, Kristina ; Hoffmann, Andrea ; Mendoza-Ferreira, Natalia ; Kaczmarek, Anna ; Janzen, Eva ; Milbradt, Janine ; Lamkemeyer, Tobias ; Rigo, Frank ; Bennett, C. Frank ; Guschlbauer, Christoph ; Büschges, Ansgar ; Hammerschmidt, Matthias ; Riessland, Markus ; Kye, Min Jeong ; Clemen, Christoph S. ; Wirth, Brunhilde

American journal of human genetics, 2016-09, Vol.99 (3), p.647-665 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
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Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

Querin, Giorgia ; Bertolin, Cinzia ; Da Re, Elisa ; Volpe, Marco ; Zara, Gabriella ; Pegoraro, Elena ; Caretta, Nicola ; Foresta, Carlo ; Silvano, Maria ; Corrado, Domenico ; Iafrate, Massimo ; Angelini, Lorenzo ; Sartori, Leonardo ; Pennuto, Maria ; Gaiani, Alessandra ; Bello, Luca ; Semplicini, Claudio ; Pareyson, Davide ; Silani, Vincenzo ; Ermani, Mario ; Ferlin, Alberto ; Sorarù, Gianni

Journal of neurology, neurosurgery and psychiatry, 2016-08, Vol.87 (8), p.810-816 [Periódico revisado por pares]

England: BMJ Publishing Group

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