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Search life-sciences literature (45,104,145 articles, preprints and more)

Suggested authors matching "AUTH:Hori I" with an ORCID

Ikumi Hori
Nagoya City University Graduate School of Medical Sciences
13
Publications
150
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Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K, Kato M, Kubota K, Fukumura S, Yamada K, Hori I, Shimizu K, Miyamoto S, Yamoto K, Hiraide T, Watanabe K, Aoki S, Furukawa S, Hayashi T, Isogai M, Harasaki T, Nakashima M, Saitsu H
Sci Rep, 14(1):24746, 21 Oct 2024
Cited by: 0 articles | PMID: 39433808 | PMCID: PMC11494122
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Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.
Fujimoto M, Nakamura Y, Hosoki K, Iwaki T, Sato E, Ieda D, Hori I, Negishi Y, Hattori A, Shiraishi H, Saitoh S
HGG Adv, 5(4):100342, 22 Aug 2024
Cited by: 0 articles | PMID: 39169619 | PMCID: PMC11404063
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A nationwide survey of Vici syndrome in Japan.
Hori I, Iwaki T, Sato E, Ieda D, Negishi Y, Hattori A, Saitoh S
Brain Dev, 46(10):309-312, 19 Aug 2024
Cited by: 0 articles | PMID: 39164139
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The impact of variant annotations on the diagnostic yield of exome sequencing for rare pediatric neurological diseases
Komatsu K, Kato M, Kubota K, Fukumura S, Yamada K, Hori I, Shimizu K, Miyamoto S, Yamoto K, Hiraide T, Watanabe K, Aoki S, Furukawa S, Hayashi T, Isogai M, Harasaki T, Nakashima M, Saitsu H
Research Square, 13 Jul 2024
Cited by: 0 articles | PPR: PPR880933
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Different Effects of Berberine Delivery to Mitochondria on Cells Derived from the Neural Crest.
Hori I, Harashima H, Yamada Y
Biol Pharm Bull, 47(10):1726-1733, 01 Jan 2024
Cited by: 0 articles | PMID: 39462587
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Development of Liposomes That Target Axon Terminals Encapsulating Berberine in Cultured Primary Neurons.
Hori I, Harashima H, Yamada Y
Pharmaceutics, 16(1):49, 28 Dec 2023
Cited by: 0 articles | PMID: 38258060 | PMCID: PMC10821366
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Development of a Mitochondrial Targeting Lipid Nanoparticle Encapsulating Berberine.
Hori I, Harashima H, Yamada Y
Int J Mol Sci, 24(2):903, 04 Jan 2023
Cited by: 4 articles | PMID: 36674418 | PMCID: PMC9863876
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Usefulness of Practitioner-Led Pancreatic Cancer Screening.
Matsumoto K, Kushiyama Y, Izumi A, Ohnishi K, Miura M, Ohuchi Y, Hori I, Nakamura T, Hori K, Koshino K, Kobayashi J, Yoshino N, Hoshino U, Okumura T, Tanimura T, Tanaka S, Tanaka S, Nabika T, Nozu T, [...] Isomoto H
Diagnostics (Basel), 12(9):2257, 19 Sep 2022
Cited by: 1 article | PMID: 36140658 | PMCID: PMC9498137
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Intermitochondrial signaling regulates the uniform distribution of stationary mitochondria in axons.
Matsumoto N, Hori I, Kajita MK, Murase T, Nakamura W, Tsuji T, Miyake S, Inatani M, Konishi Y
Mol Cell Neurosci, 119:103704, 04 Feb 2022
Cited by: 8 articles | PMID: 35131465
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Risks of ACTH therapy for West syndrome following BCG vaccination.
Maki Y, Natsume J, Hori I, Takeuchi T, Negishi Y, Kubota T, Maruyama K, Nakata T, Yamamoto H, Tanaka M, Kawaguchi M, Suzuki T, Shiraki A, Sawamura F, Kidokoro H
Epilepsy Behav, 118:107924, 07 Apr 2021
Cited by: 2 articles | PMID: 33838621
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Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.
Hori I, Ieda D, Ito S, Ebe S, Nakamura Y, Ohashi K, Aoyama K, Hattori A, Kokubo M, Saitoh S
Brain Dev, 43(4):590-595, 02 Jan 2021
Cited by: 0 articles | PMID: 33402283
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Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome.
Yamada H, Tamasaki A, Oguri M, Hori I, Saitoh S, Maegaki Y
Epileptic Disord, 22(5):673-677, 01 Oct 2020
Cited by: 1 article | PMID: 33093012
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Intermitochondrial signaling regulates the uniform distribution of stationary mitochondria in axons
Matsumoto N, Hori I, Murase T, Tsuji T, Miyake S, Inatani M, Konishi Y
bioRxiv, 31 Jul 2020
Cited by: 0 articles | PPR: PPR194909
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De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.
Kondo Y, Aoyama K, Suzuki H, Hattori A, Hori I, Ito K, Yoshida A, Koroki M, Ueda K, Kosaki K, Saitoh S
Hum Genome Var, 7:19, 01 Jun 2020
Cited by: 0 articles | PMID: 32528716 | PMCID: PMC7261772
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Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
Negishi Y, Ieda D, Hori I, Nozaki Y, Yamagata T, Komaki H, Tohyama J, Nagasaki K, Tada H, Saitoh S
Orphanet J Rare Dis, 14(1):277, 02 Dec 2019
Cited by: 11 articles | PMID: 31791363 | PMCID: PMC6888944
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A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
Nakamura Y, Okuno Y, Muramatsu H, Kawai T, Satou K, Ieda D, Hori I, Ohashi K, Negishi Y, Hattori A, Takahashi Y, Kojima S, Saitoh S
Hum Genome Var, 6:43, 04 Sep 2019
Cited by: 3 articles | PMID: 31645981 | PMCID: PMC6804535
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Delayed recognition of childhood arterial ischemic stroke.
Hori I, Tsuji T, Miyake M, Ueda K, Kataoka E, Suzuki M, Kobayashi S, Kurahashi H, Takahashi Y, Okumura A, Yoshikawa T, Saitoh S, Natsume J
Pediatr Int, 61(9):895-903, 01 Sep 2019
Cited by: 0 articles | PMID: 31295764
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A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.
Ieda D, Hori I, Nakamura Y, Ohashi K, Negishi Y, Hattori A, Arisaka A, Hasegawa S, Saitoh S
Hum Genome Var, 6:15, 25 Mar 2019
Cited by: 7 articles | PMID: 30937176 | PMCID: PMC6434044
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Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.
Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S
J Hum Genet, 64(7):701-702, 01 Jul 2019
Cited by: 0 articles | PMID: 31028281
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Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C.
Kori A, Hori I, Tanaka T, Aoyama K, Ito K, Hattori A, Ban K, Okazaki Y, Murayama K, Saitoh S
Brain Dev, 41(9):803-807, 06 Jun 2019
Cited by: 7 articles | PMID: 31178082
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De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.
Hiraide T, Hattori A, Ieda D, Hori I, Saitoh S, Nakashima M, Saitsu H
Epilepsia Open, 4(3):476-481, 24 May 2019
Cited by: 14 articles | PMID: 31440728 | PMCID: PMC6698685
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A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
Nakashima M, Negishi Y, Hori I, Hattori A, Saitoh S, Saitsu H
Am J Med Genet A, 179(4):645-649, 24 Jan 2019
Cited by: 3 articles | PMID: 30680869
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MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.
Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata KI, Saitoh S
J Med Genet, 56(6):388-395, 20 Dec 2018
Cited by: 9 articles | PMID: 30573562
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A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.
Hori I, Miya F, Negishi Y, Hattori A, Ando N, Boroevich KA, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S
J Hum Genet, 63(9):957-963, 15 Jun 2018
Cited by: 6 articles | PMID: 29907875
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A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
Ieda D, Hori I, Nakamura Y, Ohshita H, Negishi Y, Shinohara T, Hattori A, Kato T, Inukai S, Kitamura K, Kawai T, Ohara O, Kunishima S, Saitoh S
Brain Dev, 40(6):489-492, 12 Feb 2018
Cited by: 7 articles | PMID: 29449050
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1-25 of 75 results

1 2 3

Search life-sciences literature (45,104,145 articles, preprints and more)

Suggested authors matching "AUTH:Hori I" with an ORCID

Search results

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.

A nationwide survey of Vici syndrome in Japan.

The impact of variant annotations on the diagnostic yield of exome sequencing for rare pediatric neurological diseases

Different Effects of Berberine Delivery to Mitochondria on Cells Derived from the Neural Crest.

Development of Liposomes That Target Axon Terminals Encapsulating Berberine in Cultured Primary Neurons.

Development of a Mitochondrial Targeting Lipid Nanoparticle Encapsulating Berberine.

Usefulness of Practitioner-Led Pancreatic Cancer Screening.

Intermitochondrial signaling regulates the uniform distribution of stationary mitochondria in axons.

Risks of ACTH therapy for West syndrome following BCG vaccination.

Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.

Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome.

Intermitochondrial signaling regulates the uniform distribution of stationary mitochondria in axons

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.

A novel CUL4B splice site variant in a young male exhibiting less pronounced features.

Delayed recognition of childhood arterial ischemic stroke.

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.

Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.

Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C.

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.

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Suggested authors matching "AUTH:Hori I" with an ORCID