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Alzira Alves De Siqueira Carvalho, Marco Antônio Troccoli Chieia, Igor Braga Farias, Acary Souza Bulle Oliveira, Wladimir Bocca Vieira De Rezende Pinto & Paulo Victor Sgobbi De Souza. (2022) The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 23:1-2, pages 16-24.
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Vincenzo Silani, Philippe Corcia, Matthew B. Harms, Guy Rouleau, Teepu Siddique & Nicola Ticozzi. (2020) Genetics of primary lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:sup1, pages 28-34.
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Matteo Rossi Sebastiano, Giuseppe Ermondi, Shinji Hadano & Giulia Caron. (2022) AI-based protein structure databases have the potential to accelerate rare diseases research: AlphaFoldDB and the case of IAHSP/Alsin. Drug Discovery Today 27:6, pages 1652-1660.
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Enrique Nogueira, Carmen Garma, Concepción Lobo, Beatriz del Olmo & Génesis Vizuete. (2022) ALS2-related disorders in Spanish children: a severely affected case of infantile ascending spastic paraplegia due to homozygous R704X mutation. Neurological Sciences 43:3, pages 2127-2131.
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Marcello Miceli, Cécile Exertier, Marco Cavaglià, Elena Gugole, Marta Boccardo, Rossana Rita Casaluci, Noemi Ceccarelli, Alessandra De Maio, Beatrice Vallone & Marco A. Deriu. (2022) ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules. Biology 11:1, pages 77.
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Enrique Nogueira, Juana Alarcón, Carmen Garma & Cecilia Paredes. (2021) ALS2-related disorders in Spanish children. Neurological Sciences 42:5, pages 2091-2094.
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Rosanne Sprute, Hannah Jergas, Akgün Ölmez, Salem Alawbathani, Hatice Karasoy, Hormos Salimi Dafsari, Kerstin Becker, Hülya‐Sevcan Daimagüler, Peter Nürnberg, Francesco Muntoni, Haluk Topaloglu, Gökhan Uyanik & Sebahattin Cirak. (2020)
Genotype–phenotype correlation in seven motor neuron disease families with novel
ALS2
mutations
. American Journal of Medical Genetics Part A 185:2, pages 344-354.
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Kai Sato, Asako Otomo, Mahoko Takahashi Ueda, Yui Hiratsuka, Kyoko Suzuki-Utsunomiya, Junya Sugiyama, Shuji Murakoshi, Shun Mitsui, Suzuka Ono, So Nakagawa, Hui-Fang Shang & Shinji Hadano. (2018) Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function. Journal of Biological Chemistry 293:44, pages 17135-17153.
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Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R. Heath, Adrian Higginbottom, Theresa Walsh, Mbombe Kazoka, Paul G. Ince, Guillaume M. Hautbergue, Christopher J. McDermott, Janine Kirby & Pamela J. Shaw. (2017) Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Frontiers in Molecular Neuroscience 10.
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Cristian A. Droppelmann, Danae Campos-Melo, Kathryn Volkening & Michael J. Strong. (2014) The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases. Frontiers in Cellular Neuroscience 8.
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Filipa Flor-de-Lima, Mafalda Sampaio, Nahid Nahavandi, Susana Fernandes & Miguel Leão. (2014) Alsin Related Disorders: Literature Review and Case Study with Novel Mutations. Case Reports in Genetics 2014, pages 1-5.
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