HEREDITARY NEUROPATHIES IN THE NEXT GENERATION SEQUENCING ERA: A CHALLENGING DIAGNOSIS

被引：0
|
作者：
Sperti, Martina [1 ]
Rodolico, Gabriele Rosario [1 ]
Tessa, Alessandra [2 ]
Carboni, Ilaria [3 ]
Bucur, Amiela [1 ]
Leccese, Deborah [1 ]
Santorelli, Filippo Maria [4 ]
Mata, Sabrina [5 ]
机构：
[1] Univ Florence, NEUROFARBA, Neurol, Florence, Italy
[2] IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Pisa, Italy
[3] Univ Hosp Careggi, Div Genet Diagnost, Florence, Italy
[4] IRCCS Stella Maris, Neuromuscular Unit, Pisa, Italy
[5] Univ Hosp Careggi, Dept Neurol & Psychiat Sci 5, Florence, Italy
来源：
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2024年 / 29卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：S46 / S46
页数：1
相关论文
共 50 条
  • [1] Next generation sequencing is a promising tool for the diagnosis of hereditary neuropathies
    Good, Jean-Marc
    Tran, Christel
    Unger, Sheila
    Fodstad, Heidi
    Mittaz-Crettol, Laureane
    Royer-Bertrand, Beryl
    Superti-Furga, Andrea
    Kuntzer, Thierry
    [J]. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 (04) : 401 - 401
  • [2] GENETIC DIAGNOSIS FOR HEREDITARY PERIPHERAL NEUROPATHIES USING TARGETED NEXT GENERATION SEQUENCING APPROACH
    Fattori, F.
    Catteruccia, M.
    Castiglioni, C.
    Diodato, D.
    Vasco, G.
    Pane, M.
    Garibaldi, M.
    Mercuri, E.
    Pizzuti, A.
    Bertini, E.
    D'Amico, A.
    [J]. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 : S16 - S16
  • [3] Hereditary peripheral neuropathies diagnosed by next-generation sequencing
    Hoyer, Helle
    Busk, Oyvind L.
    Holla, Oystein L.
    Strand, Linda
    Russell, Michael B.
    Skjelbred, Camilla F.
    Braathen, Geir J.
    [J]. TIDSSKRIFT FOR DEN NORSKE LAEGEFORENING, 2015, 135 (20) : 1838 - 1843
  • [4] Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology
    Fallerini, Chiara
    Carignani, Giulia
    Capoccitti, Giorgio
    Federico, Antonio
    Rufa, Alessandra
    Pinto, Anna Maria
    Lo Rizzo, Caterina
    Rossi, Alessandro
    Mari, Francesca
    Mencarelli, Maria Antonietta
    Giannini, Fabio
    Renieri, Alessandra
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 359 (1-2) : 409 - 417
  • [5] NEXT GENERATION SEQUENCING IN HEREDITARY SPHEROCYTOSIS DIAGNOSIS
    Garcia Feria, Ana
    Marco Buades, Josefa
    Zuniga Cabrera, Angel
    Lopez Gabaldon, Amparo
    Broseta Tormos, Sofia
    Villa Velazquez, M. Isabel
    [J]. INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2023, 45 : 63 - 63
  • [6] Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing
    Anke Hensiek
    Stephen Kirker
    Evan Reid
    [J]. Journal of Neurology, 2015, 262 : 1601 - 1612
  • [7] Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing
    Hensiek, Anke
    Kirker, Stephen
    Reid, Evan
    [J]. JOURNAL OF NEUROLOGY, 2015, 262 (07) : 1601 - 1612
  • [8] Diagnosis of hereditary platelet disorders in the era of next-generation sequencing: "primum non nocere"
    Greinacher, Andreas
    Eekels, Julia J. M.
    [J]. JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2019, 17 (03) : 551 - 554
  • [9] Diagnosing hereditary neuropathies in the clinic with next-generation sequencing technology, the Norwegian experience
    Hoyer, H.
    Busk, O. L.
    Holla, O. L.
    Strand, L.
    Skjelbred, C. F.
    Russell, M. B.
    Braathen, G. J.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 : 34 - 34
  • [10] Diagnosing Hereditary Neuropathies in the Clinic with Next-Generation Sequencing Technology, the Norwegian Experience
    Braathen, Geir
    Hoyer, Helle
    Busk, Oyvind
    Holla, Oystein
    Strand, Linda
    Skjebred, Camilla
    Russell, Michael
    [J]. NEUROLOGY, 2016, 86
12345