Results 131 to 140 of about 2,774 (188)

Islam & International Criminal Law: A Brief (In) Compatibility Study [PDF]

, 2010
This paper explores why that incompatibility between Islam and international criminal law persists and considers recommendations for mitigating that dynamic. Why is this important?
Kelly, Michael J.
core   +1 more source

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

American Journal of Human Genetics, 2008
C. Lagier-Tourenne, M. Tazir, L. Lopez, C. Quinzii, M. Assoum, N. Drouot, C. Busso, S. Makri, L. Alipacha, T. Benhassine, M. Anheim, D. Lynch, C. Thibault, F. Plewniak, Laurent Bianchetti, C. Tranchant, O. Poch, S. Dimauro, J. Mandel, M. Barros, M. Hirano, M. Koenig   +21 more
semanticscholar   +1 more source

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review. [PDF]

Front Mol Neurosci, 2022
Chen S, Du J, Jiang H, Zhao W, Wang N, Ying A, Li J, Chen S, Shen B, Zhou Y.   +9 more
europepmc   +1 more source

Prevalence and determinants of child malnutrition in Bangladesh: a comparative analysis of multilevel modeling. [PDF]

BMC Pediatr
Suchana AJ, Noor STA, Shah MRT, Kabir A, Bhuia MR.   +4 more
europepmc   +1 more source

A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review. [PDF]

Brain Sci, 2022
Chiang PI, Liao TW, Chen CM.
europepmc   +1 more source

Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy. [PDF]

Front Neurosci, 2020
Xu X, Yang X, Su Z, Wang H, Li X, Sun C, Wang W, Chen Y, Zhang C, Zhang H, Jin F, Zheng J.   +11 more
europepmc   +1 more source

A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L. [PDF]

Cytoskeleton (Hoboken), 2021
Stone EJ, Kolb SJ, Brown A.
europepmc   +1 more source

SLK is mutated in individuals with a neurodevelopmental disorder. [PDF]

EBioMedicine
Alabdi L, Altuwaijri N, Zhu JY, Efthymiou S, Lee H, Duan J, Salem I, Yu P, Abdullah NL, Alzahrani F, Xu Q, Felemban MM, Alfaifi A, Rahman F, Christoforou M, Maqbool S, Martinez-Agosto JA, Alsaif HS, Hashem M, Helaby R, Alsulaiman A, SYNaPS Study Group, Queen Square Genomics, Maroofian R, Houlden H, Arold ST, Ibrahim LA, Han Z, Alkuraya FS.   +28 more
europepmc   +1 more source

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease. [PDF]

Front Cell Dev Biol, 2021
Schiavon CR, Shadel GS, Manor U.
europepmc   +1 more source

A novel <i>SIGMAR1</i> missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China. [PDF]

Front Genet
Yu Q, Mohammed Nazar RB, Chen S, Qian Q, Wang J, Chen X.   +5 more
europepmc   +1 more source