Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single‐site study-Reference-Cited by-同舟云学术

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Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single‐site study

Published:2021-07-20 Issue:4 Volume:64 Page:454-461
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle & Nerve

Author:

Felice Kevin J.¹,Whitaker Charles H.¹,Khorasanizadeh Sadaf¹

Affiliation:

1. Department of Neuromuscular Medicine Hospital for Special Care New Britain Connecticut USA

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27368

Reference66 articles.

1. Charcot‐Marie‐Tooth disease and other genetic polyneuropathies;Ramchandren S;Continuum.,2017

2. Inherited Neuropathies

3. Charcot–Marie–Tooth disease and related disorders: an evolving landscape

4. Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

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1. The Diagnostic Landscape of Adult Neurogenetic Disorders;Biology;2023-11-22

2. Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review;Frontiers in Neuroscience;2023-11-17

3. High diagnostic yield with algorithmic molecular approach on hereditary neuropathies;Revista da Associação Médica Brasileira;2023-02

4. Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease;neurogenetics;2022-05-13

5. Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years;Life;2022-03-10

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