Results 111 to 120 of about 782 (149)

Open Auditorium-A human-centric extended reality blended learning tool. [PDF]

Front Artif Intell
Isop WA.
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

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

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

18 numaralı Kalabend Defterine göre (S. 1-146) H. 1188-1190/M. 1774-1776 yılları arasında Osmanlı Devleti'nde suç, suçlu ve cezalar (Değerlendirme-metin) [PDF]

Osmanlı adalet sisteminin somut bir örneği olan Kalabend defterleri, padişahın örfi hukuktan elde ettiği yasama ve yargı yetkisinin, Divan-ı Hümayun´da özellikle tazir cezalarında uygulanmasının ve yazıya geçirilmesinin bir tezahürüdür.
Bayraktar, Osman Nuri
core  

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

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. [PDF]

Am J Hum Genet
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A, SYNAPS Study Group, Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H.   +66 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