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Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.

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Title: Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.
Authors: Urabe H; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan., Nakajima T; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan. nakajima-md@mqb.biglobe.ne.jp.; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan. nakajima-md@mqb.biglobe.ne.jp., Mitsuhashi S; Department of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, 216-8511, Japan., Ohta K; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan.; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan., Fujinaka H; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan., Goto K; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan., Sato A; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan.
Source: BMC medical genomics [BMC Med Genomics] 2025 Nov 11; Vol. 18 (1), pp. 180. Date of Electronic Publication: 2025 Nov 11.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Urabe+H%22">Urabe H</searchLink>; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan.<br /><searchLink fieldCode="AU" term="%22Nakajima+T%22">Nakajima T</searchLink>; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan. nakajima-md@mqb.biglobe.ne.jp.; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan. nakajima-md@mqb.biglobe.ne.jp.<br /><searchLink fieldCode="AU" term="%22Mitsuhashi+S%22">Mitsuhashi S</searchLink>; Department of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, 216-8511, Japan.<br /><searchLink fieldCode="AU" term="%22Ohta+K%22">Ohta K</searchLink>; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan.; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan.<br /><searchLink fieldCode="AU" term="%22Fujinaka+H%22">Fujinaka H</searchLink>; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan.<br /><searchLink fieldCode="AU" term="%22Goto+K%22">Goto K</searchLink>; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan.<br /><searchLink fieldCode="AU" term="%22Sato+A%22">Sato A</searchLink>; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan.
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  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2025 Nov 11; Vol. 18 (1), pp. 180. <i>Date of Electronic Publication: </i>2025 Nov 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE
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              Text: 2025 Nov 11
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