BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 32171285)

  • 21. Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
    Beheshtian M; Akhtarkhavari T; Mehvari S; Mohseni M; Fattahi Z; Abedini SS; Arzhangi S; Fadaee M; Jamali P; Najafipour R; Kalscheuer VM; Hu H; Ropers HH; Najmabadi H; Kahrizi K
    Clin Genet; 2021 Jan; 99(1):187-192. PubMed ID: 32895917
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50).
    Eberhardt K; Jumo H; D'Amore A; Alecu JE; Ziegler M; Afshar Saber W; Sahin M; Ebrahimi-Fakhari D
    Stem Cell Res; 2021 May; 53():102335. PubMed ID: 34087981
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
    Wakil SM; Alhissi S; Al Dossari H; Alqahtani A; Shibin S; Melaiki BT; Finsterer J; Al-Hashem A; Bohlega S; Alazami AM
    BMC Med Genet; 2019 Jul; 20(1):119. PubMed ID: 31272422
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Spastic paraplegia 51: phenotypic spectrum related to novel homozygous
    Manoochehri J; Goodarzi HR; Tabei SMB
    J Genet; 2022; 101():. PubMed ID: 36226339
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Ap4b1-knockout mouse model of hereditary spastic paraplegia type 47 displays motor dysfunction, aberrant brain morphology and ATG9A mislocalization.
    Scarrott JM; Alves-Cruzeiro J; Marchi PM; Webster CP; Yang ZL; Karyka E; Marroccella R; Coldicott I; Thomas H; Azzouz M
    Brain Commun; 2023; 5(1):fcac335. PubMed ID: 36632189
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population.
    Wang H; Xu Y; Chen M; Shang Q; Sun Y; Zhu D; Wang L; Huang Z; Ma C; Li T; He L; Xing Q; Zhu C
    Mol Biol Rep; 2013 Nov; 40(11):6459-67. PubMed ID: 24065543
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.
    Zheng W; Zhang J; Deng X; Xiao J; Yuan L; Yang Y; Guan L; Song Z; Yang Z; Deng H
    Mol Neurobiol; 2016 Mar; 53(2):835-841. PubMed ID: 25502464
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel compound heterozygous variants (c.971delA/c.542C > T) in
    Mohamed FE; Ghattas MA; Almansoori TM; Tabouni M; Baydoun I; Kizhakkedath P; John A; Alblooshi H; Shaukat Q; Al-Jasmi F
    Front Pediatr; 2023; 11():1183574. PubMed ID: 37502193
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.
    Bellad A; Girimaji SC; Muthusamy B
    Neurol Sci; 2021 Dec; 42(12):5311-5319. PubMed ID: 33884525
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
    Chen X; Liu J; Wei QQ; Ou RW; Cao B; Yuan X; Hou Y; Zhang L; Shang H
    BMC Neurol; 2020 Jan; 20(1):2. PubMed ID: 31900114
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).
    Ma H; Guo Y; Chen Z; Wang L; Tang Z; Zhang J; Miao Q; Zhai Q
    Seizure; 2021 May; 88():146-152. PubMed ID: 33895391
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A case report of SPG11 mutations in a Chinese ARHSP-TCC family.
    Zhang L; McFarland KN; Jiao J; Jiao Y
    BMC Neurol; 2016 Jun; 16():87. PubMed ID: 27256065
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Whole exome sequencing reveals novel
    Xiao X; Cao Y; Chen S; Chen M; Mai X; Zheng Y; Zhuang X; Ng TK; Chen H
    Mol Vis; 2019; 25():35-46. PubMed ID: 30804660
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
    Fichera M; Failla P; Saccuzzo L; Miceli M; Salvo E; Castiglia L; Galesi O; Grillo L; Calì F; Greco D; Amato C; Romano C; Elia M
    Hum Genet; 2019 Feb; 138(2):187-198. PubMed ID: 30656450
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
    Zhao M; Chen YJ; Wang MW; Lin XH; Dong EL; Chen WJ; Wang N; Lin X
    Mol Diagn Ther; 2019 Dec; 23(6):781-789. PubMed ID: 31630374
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
    Chelban V; Patel N; Vandrovcova J; Zanetti MN; Lynch DS; Ryten M; Botía JA; Bello O; Tribollet E; Efthymiou S; Davagnanam I; ; Bashiri FA; Wood NW; Rothman JE; Alkuraya FS; Houlden H
    Am J Hum Genet; 2017 Jun; 100(6):969-977. PubMed ID: 28575651
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Severe congenital microcephaly with AP4M1 mutation, a case report.
    Duerinckx S; Verhelst H; Perazzolo C; David P; Desmyter L; Pirson I; Abramowicz M
    BMC Med Genet; 2017 May; 18(1):48. PubMed ID: 28464862
    [TBL] [Abstract][Full Text] [Related]  

  • 38. More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.
    Chen S; Zou JL; He S; Li W; Zhang JW; Li SJ
    Brain Behav; 2021 Dec; 11(12):e32395. PubMed ID: 34734492
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.
    Tessa A; Battini R; Rubegni A; Storti E; Marini C; Galatolo D; Pasquariello R; Santorelli FM
    Eur J Neurol; 2016 Oct; 23(10):1580-7. PubMed ID: 27444738
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
    Shukla A; Das Bhowmik A; Hebbar M; Rajagopal KV; Girisha KM; Gupta N; Dalal A
    J Hum Genet; 2018 Jan; 63(1):19-25. PubMed ID: 29215095
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.