<scp>HINT1</scp> neuropathy: Expanding the genotype and phenotype spectrum-Reference-Cited by-同舟云学术

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

Published:2022-08-16 Issue:5 Volume:102 Page:379-390
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Morel Victor¹,Campana‐Salort Emmanuelle²,Boyer Amandine¹,Esselin Florence³,Walther‐Louvier Ulrike⁴,Querin Giorgia⁵⁶,Latour Philippe⁷,Lia Anne‐Sophie⁸,Magdelaine Corinne⁸,Beze‐Beyrie Pierre⁹,Behin Anthony⁵,Delague Valérie¹⁰,Levy Nicolas¹¹⁰,Stojkovic Tanya⁵,Attarian Shahram²¹⁰,Bonello‐Palot Nathalie¹¹⁰

Affiliation:

1. APHM, CHU Timone Département de Génétique Médicale Marseille France

2. APHM, CHU Timone Centre de référence des Maladies Neuromusculaires et de la SLA, ERN‐NMD Marseille France

3. CHU Montpellier Centre de référence des Maladies du Motoneurone et des Maladies Neuromusculaires Montpellier France

4. CHU Montpellier, Service de Neuropédiatrie Centre de référence des Maladies Neuromusculaires AOC (Atlantique‐Occitanie‐Caraïbe) Montpellier France

5. APHP, Hôpital Pitié‐Salpêtrière Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Paris France

6. Institut de Myologie I‐Motion clinical trials platform Hôpital Pitié‐Salpêtrière Paris France

7. CHU de Lyon, GH Est Service de Biochimie et Biologie Moléculaire Grand Est Bron France

8. Service de Biochimie et Génétique Moléculaire CHU Limoges France

9. Département de Neuropédiatrie Hôpital de Pau Pau France

10. INSERM, MMG, U 1251, Marseille, France Aix Marseille Univ Marseille France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14198

Reference35 articles.

1. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

2. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

3. The Histidine Triad Protein Hint1 Triggers Apoptosis Independent of Its Enzymatic Activity

4. Biological indicators of prognosis in Ewing's sarcoma: An emerging role for lectin galactoside-binding soluble 3 binding protein (LGALS3BP)

5. The Intracellular Domain of Teneurin-1 Induces the Activity of Microphthalmia-associated Transcription Factor (MITF) by Binding to Transcriptional Repressor HINT1

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