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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 17, 2016 - Issue 3-4
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Research Article

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

Shakeela DaudInstitute of Biochemistry and Biotechnology (IBBt), UVAS, Lahore, Pakistan,
,
Naseebullah KakarInstitute of Human Genetics, University of Ulm, Ulm, Germany, ;International Graduate School in Molecular Medicine Ulm, University of Ulm, Ulm, Germany, ;Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan,
,
Ingrid GoebelInstitute of Human Genetics, University of Ulm, Ulm, Germany, ;Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany,
,
Abu Saeed HashmiInstitute of Biochemistry and Biotechnology (IBBt), UVAS, Lahore, Pakistan,
,
Tahir YaqubInstitute of Biochemistry and Biotechnology (IBBt), UVAS, Lahore, Pakistan, ;Department of Microbiology, UVAS, Lahore, Pakistan,
,
Gudrun NürnbergCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany,
,
Peter NürnbergCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, ;Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany, ;Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany,
,
Deborah J. Morris-RosendahlClinical Genetics and Genomics, Royal Brompton Hospital, London, United Kingdom, ;National Heart and Lung Institute, Imperial College London, London, United Kingdom
,
Muhammad WasimInstitute of Biochemistry and Biotechnology (IBBt), UVAS, Lahore, Pakistan,
,
Alexander E. VolkInstitute of Human Genetics, University of Ulm, Ulm, Germany, ;Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany,
,
Christian KubischInstitute of Human Genetics, University of Ulm, Ulm, Germany, ;Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany,
,
Jamil AhmadDepartment of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan,
&
Guntram BorckInstitute of Human Genetics, University of Ulm, Ulm, Germany, Correspondence[email protected]
 show all
Pages 260-265 | Received 13 Jul 2015, Accepted 15 Oct 2015, Published online: 11 Jan 2016

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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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Huma Tariq, Shahid Mukhtar & Sadaf Naz. (2017) A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis. Journal of Neurogenetics 31:1-2, pages 26-29.
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Articles from other publishers (7)

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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Liena E. O. Elsayed, Isra Zuhair Eltazi, Ammar E. Ahmed & Giovanni Stevanin. (2021) Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview. Frontiers in Molecular Biosciences 8.
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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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Mayada Helal, Neda Mazaheri, Bita Shalbafan, Reza Azizi Malamiri, Nafi Dilaver, Rebecca Buchert, Javad Mohammadiasl, Neda Golchin, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Tobias B. Haack, Olaf Riess, Wendy K. Chung, Hamid Galehdari, Gholamreza Shariati & Reza Maroofian. (2018) Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. Neurological Sciences 39:11, pages 1917-1925.
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FoSheng Hsu, Stephanie Spannl, Charles Ferguson, Anthony A Hyman, Robert G Parton & Marino Zerial. (2018) Rab5 and Alsin regulate stress-activated cytoprotective signaling on mitochondria. eLife 7.
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Angeleen Fleming, Mariella Vicinanza, Maurizio Renna, Claudia Puri, Thomas Ricketts, Jens Füllgrabe, Ana Lopez, Sarah M. de Jager, Avraham Ashkenazi, Mariana Pavel, Floriana Licitra, Andrea Caricasole, Stephen P. Andrews, John Skidmore & David C. Rubinsztein. 2018. The Molecular and Cellular Basis of Neurodegenerative Diseases. The Molecular and Cellular Basis of Neurodegenerative Diseases 299 343 .

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