ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India von Kuchay, Raja A. H., Mir, Yaser Rafiq, Zeng, Xue, Hassan, Asima, Musarrat, Javed, Parwez, Iqbal, Kernstock, Christoph, Traschütz, Andreas, Synofzik, Matthis

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Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India von Mir, Yaser Rafiq, Zeng, Xue, Taneja, Atul K., Hassan, Asima, Sheth, Jayesh, Kuchay, Raja A. H.

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Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic... von Mir, Yaser Rafiq, Agrahari, Ashish Kumar, Hassan, Asima, Choudhary, Abhishek, Asthana, Shailendra, Taneja, Atul Kumar, Nawaz, Shah, Ilyas, Mohd, Scotti, Claudia, Kuchay, Raja A. H.

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Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir von Kuchay, Raja A.H., Mir, Yaser Rafiq, Zeng, Xue, Hassan, Asima, Namba, Kazunori, Tekin, Mustafa

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Exome sequencing and molecular dynamics simulation characterizes a compound heterozygous GCDH missense variant leading to glutaric aciduria type 1 in a paediatric patient from Jamm... von Mir, Yaser Rafiq, Agrahari, Ashish Kumar, Choudhary, Abhishek, Hassan, Asima, Taneja, Atul Kumar, Zenteno, Juan C., Montes-Almanza, Luis, Rusmini, Marta, Namba, Kazunori, Banday, Aaqib Zaffar, Kuchay, Raja A.H.

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