Mitochondrial MS mimickers: A literature review and a novel form associated to variants in the TUFM gene

被引：0
|
作者：
Hasan, Hanifa [1 ]
Chen, Shihan [2 ]
Brais, Bernard [3 ]
La Piana, Roberta [4 ]
机构：
[1] McGill Univ, Montreal Neurol Inst, Neurol & Neurosurgery, Montreal, PQ, Canada
[2] Montreal Neurol Inst, Dept Neurol & Neurosurg, Montreal, PQ, Canada
[3] Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Montreal, PQ, Canada
[4] McGill Univ, Dept Diagnost Radiol, Montreal, PQ, Canada
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2023年 / 455卷
关键词：
D O I：
10.1016/j.jns.2023.121854
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
121854
引用
收藏
页数：1
相关论文
共 50 条
  • [31] Novel biallelic variants in MSTO1 associated with mitochondrial myopathy
    Schultz-Rogers, Laura
    Ferrer, Alejandro
    Dsouza, Nikita R.
    Zimmermann, Michael T.
    Smith, Benn E.
    Klee, Eric W.
    Dhamija, Radhika
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2019, 5 (06):
  • [32] The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review
    Wu, Wenyong
    Chen, Ruimin
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2023, 11 (01):
  • [33] OPTN Gene Associated with Corticobasal Syndrome: A Novel Multi-Exon Deletion and Literature Review
    Bonato, G.
    Ginevrino, M.
    Savini, B.
    Ciprietti, D.
    Santurelli, P.
    Gasparoli, E.
    Gabelli, C.
    Soraru, G.
    Biundo, R.
    Carecchio, M.
    Guerra, A.
    Salviati, L.
    Antonini, A.
    MOVEMENT DISORDERS, 2024, 39 : S748 - S748
  • [34] Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
    Huakun Shangguan
    Chang Su
    Qian Ouyang
    Bingyan Cao
    Jian Wang
    Chunxiu Gong
    Ruimin Chen
    Orphanet Journal of Rare Diseases, 14
  • [35] Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature
    Shangguan, Huakun
    Su, Chang
    Ouyang, Qian
    Cao, Bingyan
    Wang, Jian
    Gong, Chunxiu
    Chen, Ruimin
    ORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (01)
  • [36] A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants
    Takahashi, Yoko
    Kubota, Masaya
    Kosaki, Rika
    Kosaki, Kenjiro
    Ishiguro, Akira
    BRAIN & DEVELOPMENT, 2021, 43 (03): : 464 - 469
  • [37] Novel Variants of Mitochondrial Calcium Uniporter Form Plasma-Membrane Channels in Human Platelets
    Jhun, Bong Sook S.
    Cypress, Michael W.
    Nieto, Bridget
    O-Uchi, Jin
    CIRCULATION RESEARCH, 2023, 133 (12) : E66 - E67
  • [38] A Novel Form of Renal Tubular Acidosis (RTA) Associated With Immune Checkpoint Inhibitors: A Case Report and Literature Review
    Weiner, I. D.
    Lee, Hyun-Wook
    Clapp, William L.
    Shah, Chintan V.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2022, 33 (11): : 741 - 742
  • [39] Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene
    Brauns, Birka
    Schubert, Steffen
    Lehmann, Janin
    Laspe, Petra
    Koerner, Andrea
    Brockmann, Knut
    Schoen, Michael P.
    Emmert, Steffen
    PHOTODERMATOLOGY PHOTOIMMUNOLOGY & PHOTOMEDICINE, 2016, 32 (02) : 110 - 112
  • [40] Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene
    Brauns, B.
    Schubert, S.
    Lehmann, J.
    Laspe, P.
    Koerner, A.
    Brockmann, K.
    Schoen, M. P.
    Emmert, S.
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2015, 13 : 30 - 30
12345