क्यूआर कोड

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders

Abstract Background Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also in amyotrophic lateral sclerosis (ALS). However, it remains controversial wheth...

पूर्ण विवरण

में बचाया:
मुख्य लेखकों: Mehrdad A. Estiar, Eric Yu, Parizad Varghaei, Jay P. Ross, Setareh Ashtiani, Andrew N. Bayne, Giulia Coarelli, Dagmar Timmann, Thomas Klockgether, Danique Beijer, David Mengel, Marie Coutelier, Project MinE ALS Sequencing Consortium, Patrick A. Dion, Oksana Suchowersky, Claire Ewenczyk, Cyril Goizet, Giovanni Stevanin, Philip Van Damme, Ammar Al-Chalabi, Stephan Zuchner, Matthis Synofzik, Jan H. Veldink, Jean-Francois Trempe, Alexandra Durr, Guy A. Rouleau, Ziv Gan-Or
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BMC 2026-03-01
श्रृंखला:BMC Medicine
विषय:
Cerebellar disorder
Motor neuron disorder
Lateral sclerosis
Ataxia
SPG7
AFG3L2
ऑनलाइन पहुंच:https://doi.org/10.1186/s12916-026-04805-z
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