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Neurological Sciences, ISSN 1590-1874, 9/2018, Volume 39, Issue 9, pp. 1547 - 1550
Dysarthrophonia is often reported by hereditary spastic paraplegia (HSP) patients with SPG11 mutations but it has been poorly investigated.The goal of this... 
Hereditary spastic paraplegia | Neurology | Medicine & Public Health | Dysarthrophonia | Acoustics | Neurosurgery | Electroglottography | Psychiatry | Neuroradiology | Paraplegia | Heat shock proteins | Speech | Paralysis | Mutation | Spastic paraplegia | Index Medicus
Journal Article
IEEE Journal of Biomedical and Health Informatics, ISSN 2168-2194, 01/2019, Volume 23, Issue 1, pp. 26 - 37
The advancement of scientific and medical research over the past years has generated a wealth of experimental data from multiple technologies, including... 
Drugs | Network integration | spastic ataxia (SA) | Diseases | systems bioinformatics | Proteins | Neurology | Data integration | Genetics | precision medicine | Bioinformatics | Huntington's disease (HD) | GBA-2 related diseases | APOPTOSIS | MEDICAL INFORMATICS | TYROSINE-HYDROXYLASE | COMPUTER SCIENCE, INFORMATION SYSTEMS | ALPHA | NEURODEGENERATION | PARAPLEGIA | CLINICAL-FEATURES | GBA2 | CELL-DEATH | GLUCOCEREBROSIDASE | COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | MUTATIONS | Computational Biology - methods | Signal Transduction | Humans | Optic Atrophy - physiopathology | Spinocerebellar Ataxias - physiopathology | Muscle Spasticity - metabolism | Spinocerebellar Ataxias - metabolism | Huntington Disease - metabolism | Intellectual Disability - genetics | Intellectual Disability - metabolism | Protein Interaction Maps | Intellectual Disability - physiopathology | Medical Informatics | Optic Atrophy - metabolism | beta-Glucosidase - genetics | Huntington Disease - genetics | beta-Glucosidase - metabolism | Muscle Spasticity - physiopathology | Muscle Spasticity - genetics | Huntington Disease - physiopathology | Optic Atrophy - genetics | Precision Medicine | Spinocerebellar Ataxias - genetics | Huntingtons disease | Medical research | Phenotypes | Integration | Huntington's disease | Connectors | Medicine | Pathways | Proteomics | Clusters | Ataxia | Classical pathway | Index Medicus
Journal Article
International journal of molecular sciences, ISSN 1661-6596, 10/2018, Volume 19, Issue 10, p. 3099
Journal Article
by Chelban, Viorica and Wilson, Matthew P and Warman Chardon, Jodi and Vandrovcova, Jana and Zanetti, M. Natalia and Zamba‐Papanicolaou, Eleni and Efthymiou, Stephanie and Pope, Simon and Conte, Maria R and Abis, Giancarlo and Liu, Yo‐Tsen and Tribollet, Eloise and Haridy, Nourelhoda A and Botía, Juan A and Ryten, Mina and Nicolaou, Paschalis and Minaidou, Anna and Christodoulou, Kyproula and Kernohan, Kristin D and Eaton, Alison and Osmond, Matthew and Ito, Yoko and Bourque, Pierre and Jepson, James E. C and Bello, Oscar and Bremner, Fion and Cordivari, Carla and Reilly, Mary M and Foiani, Martha and Heslegrave, Amanda and Zetterberg, Henrik and Heales, Simon J. R and Wood, Nicholas W and Rothman, James E and Boycott, Kym M and Mills, Philippa B and Clayton, Peter T and Houlden, Henry and Kriouile, Yamna and Khorassani, Mohamed El and Aguennouz, Mhammed and Groppa, Stanislav and Marinova Karashova, Blagovesta and Van Maldergem, Lionel and Nachbauer, Wolfgang and Boesch, Sylvia and Arning, Larissa and Timmann, Dagmar and Cormand, Bru and Pérez‐Dueñas, Belen and Di Rosa, Gabriella and Goraya, Jatinder S and Sultan, Tipu and Mine, Jun and Avdjieva, Daniela and Kathom, Hadil and Tincheva, Radka and Banu, Selina and Pineda‐Marfa, Mercedes and Veggiotti, Pierangelo and Ferrari, Michel D and van den Maagdenberg, Arn M J M and Verrotti, Alberto and Marseglia, Giangluigi and Savasta, Salvatore and García‐Silva, Mayte and Ruiz, Alfons Macaya and Garavaglia, Barbara and Borgione, Eugenia and Portaro, Simona and Sanchez, Benigno Monteagudo and Boles, Richard and Papacostas, Savvas and Vikelis, Michail and Rothman, James and Giunti, Paola and Houlden, Henry and Chelban, Viorica and Salpietro, Vincenzo and Oconnor, Emer and Efthymiou, Stephanie and Kullmann, Dimitri and Kaiyrzhanov, Rauan and Sullivan, Roisin and Khan, Alaa Matooq and Yau, Wai Yan and Hostettler, Isabel and Papanicolaou, Eleni Zamba and Dardiotis, Efthymios and Maqbool, Shazia and Ibrahim, Shahnaz and Kirmani, Salman and Rana, Nuzhat Noureen and Atawneh, Osama and Lim, Shen‐Yang and Shaikh, Farooq and Koutsis, George and Breza, Marianthi and Mangano, Salvatore and Scuderi, Carmela and ... and Care4Rare Canada Consortium and SYNaPS Study Grp
Annals of Neurology, ISSN 0364-5134, 08/2019, Volume 86, Issue 2, pp. 225 - 240
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2005, Volume 128, Issue 10, pp. 2304 - 2314
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 01/2014, Volume 78, Issue 1, pp. 13 - 22
Journal Article
Journal Article