Results 121 to 130 of about 2,395 (162)

Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance. [PDF]

Mov Disord, 2020
San Luciano M, Tanner CM, Meng C, Marras C, Goldman SM, Lang AE, Tolosa E, Schüle B, Langston JW, Brice A, Corvol JC, Goldwurm S, Klein C, Brockman S, Berg D, Brockmann K, Ferreira JJ, Tazir M, Mellick GD, Sue CM, Hasegawa K, Tan EK, Bressman S, Saunders-Pullman R, Michael J. Fox Foundation LRRK2 Cohort Consortium.   +24 more
europepmc   +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

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 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

Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency. [PDF]

Brain Commun
Magrinelli F, Taylor LS, Sedighzadeh S, Moualek D, Severino M, Grba DN, Alston CL, Champion M, Tavasoli AR, Lascelles K, Gowda VK, Srinivasan VM, Fateh ST, Kordi-Tamandani M, Khajeh A, Yaghoubi S, Dominik N, Babaei M, Javadzadeh M, Varaghchi JR, Miryounesi M, Ghayoor Karimiani E, Tazir M, Ali Pacha L, Bhatia KP, Taylor RW, Houlden H, Maroofian R.   +27 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

Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes. [PDF]

Neurol Clin Pract
Kediha MI, Tazir M, Sternberg D, Eymard B, Ali Pacha L.   +4 more
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