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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
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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3
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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4
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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5
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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6
Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy
Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy
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Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy

Cottam, Nicholas C. ; Bamfo, Tiffany ; Harrington, Melissa A. ; Charvet, Christine J. ; Hekmatyar, Khan ; Tulin, Nikita ; Sun, Jianli

Brain pathology (Zurich, Switzerland), 2023-09, Vol.33 (5), p.e13162-n/a [Periódico revisado por pares]

Switzerland: John Wiley & Sons, Inc

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7
Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularization
Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularization
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Sam68 binds Alu-rich introns in SMN and promotes pre-mRNA circularization

Pagliarini, Vittoria ; Jolly, Ariane ; Bielli, Pamela ; Di Rosa, Valentina ; De la Grange, Pierre ; Sette, Claudio

Nucleic acids research, 2020-01, Vol.48 (2), p.633-645 [Periódico revisado por pares]

England: Oxford University Press

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8
The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex
The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex
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The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex

Chi, Binkai ; O'Connell, Jeremy D ; Iocolano, Alexander D ; Coady, Jordan A ; Yu, Yong ; Gangopadhyay, Jaya ; Gygi, Steven P ; Reed, Robin

Nucleic acids research, 2018-12, Vol.46 (22), p.11939-11951 [Periódico revisado por pares]

England: Oxford University Press

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9
Immediate effect of spinal magnetic stimulation on camptocormia in Parkinson's disease
Immediate effect of spinal magnetic stimulation on camptocormia in Parkinson's disease
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Immediate effect of spinal magnetic stimulation on camptocormia in Parkinson's disease

Arii, Yoshiharu ; Sawada, Yuki ; Kawamura, Kazuyuki ; Miyake, Sayaka ; Taichi, Yasuo ; Izumi, Yuishin ; Kuroda, Yukiko ; Inui, Toshio ; Kaji, Ryuji ; Mitsui, Takao

Journal of neurology, neurosurgery and psychiatry, 2014-11, Vol.85 (11), p.1221-1226 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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10
A novel role for CARM1 in promoting nonsense-mediated mRNA decay: potential implications for spinal muscular atrophy
A novel role for CARM1 in promoting nonsense-mediated mRNA decay: potential implications for spinal muscular atrophy
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A novel role for CARM1 in promoting nonsense-mediated mRNA decay: potential implications for spinal muscular atrophy

Sanchez, Gabriel ; Bondy-Chorney, Emma ; Laframboise, Janik ; Paris, Geneviève ; Didillon, Andréanne ; Jasmin, Bernard J ; Côté, Jocelyn

Nucleic acids research, 2016-04, Vol.44 (6), p.2661-2676 [Periódico revisado por pares]

England: Oxford University Press

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