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Image_5_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.PNG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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Table_2_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.DOCX
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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3
Image_2_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.PNG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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4
Image_10_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.PNG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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5
Image_3_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.PNG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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6
Image_4_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.PNG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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7
Image_7_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.JPEG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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8
Image_1_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.JPEG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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9
Table_1_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.DOCX
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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10
Image_8_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.JPEG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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11
Image_6_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.PNG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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12
Table_3_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.DOCX
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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13
Image_9_Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.JPEG
Published 2022“…</p>Conclusions<p>Presented are two autosomal recessive LHON (arLHON, OMIM:619382) cases with the same DNAJC30:c.152G>A pathogenic variant and different degrees of spontaneous visual recovery despite progressive RNFL thinning during a long-term follow-up. …”
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14
Characteristics of 152 study participants.
Published 2025Subjects: “…bacteriologically confirmed cases…”
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15
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Decreased MBP levels in the brain in <i>Large</i><sup><i>myd/myd</i></sup> mice.
Published 2020“…Decreased expression levels of MBP were observed in <i>Large</i><sup><i>myd/myd</i></sup> mice compared with those in control mice. …”
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The number of expected vaccinations decreases with the expected vaccination time, whereas the peak of infections increases.
Published 2023“…Brighter colours indicate higher 〈<i>s</i>(<i>t</i><sub><i>v</i></sub>)〉. Note the nonlinear increase of <i>n</i> on the y-axis. C) Relatedly, we show the peak of infections max<sub><i>t</i></sub>(<i>i</i>(<i>t</i>)) as a heat map as function of the expected vaccination time 〈<i>t</i><sub><i>v</i></sub>〉 for the same range of vaccine arrival distributions <i>p</i><sub><i>n</i></sub> as in B). …”
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Decreased CNPase levels in the SG/RC in <i>Large</i><sup><i>myd/myd</i></sup> <i>mice</i>.
Published 2020“…<p>Lysates were obtained from the spiral ganglion (SG)/Rosenthal’s canal (RC) of the P5-7 control and <i>Large</i><sup><i>myd/myd</i></sup> mice. CNPase immunoblotting showed decreased levels of CNPase in the <i>Large</i><sup><i>myd/myd</i></sup> mice. …”