Search Results - "Della-Ripa B"

Argininemia: Pathophysiology and Novel Methods for Evaluation of the Disease.

Authors: Nteli, Despoina Nteli, Maria Konstantinidis, Konstantinos et al.

Source: Applied Sciences (2076-3417); Feb2024, Vol. 14 Issue 4, p1647, 15p

Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.

Authors: Braga, Vitor Lucas Lopes Lima, Danielle Pessoa Mariano, Tamiris Carneiro et al.

Source: Brain Sciences (2076-3425). Nov2023, Vol. 13 Issue 11, p1521. 14p.

Editorial for Brain Sciences Special Issue: "Neurogenetic Disorders across Human Life: From Infancy to Adulthood".

Authors: Nóbrega, Paulo Ribeiro Braga-Neto, Pedro

Source: Brain Sciences (2076-3425). Feb2024, Vol. 14 Issue 2, p111. 2p.

Voltage-Gated Sodium Channel Dysfunctions in Neurological Disorders.

Authors: Barbieri, Raffaella Nizzari, Mario Zanardi, Ilaria et al.

Source: Life (2075-1729). May2023, Vol. 13 Issue 5, p1191. 19p.

Parental germline mosaicism in SCN3A-related severe developmental disorder.

Authors: Inuzuka LM Macedo-Souza LI Guerra-Peixe M et al.

Source: Brain & development [Brain Dev] 2021 May; Vol. 43 (5), pp. 669-670. Date of Electronic Publication: 2021 Jan 22.

Publication Type: Letter

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.

Authors: Inuzuka LM Macedo-Souza LI Della-Ripa B et al.

Source: Brain & development [Brain Dev] 2020 Oct; Vol. 42 (9), pp. 691-695. Date of Electronic Publication: 2020 Aug 07.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.

Authors: Salari M Rezaei K Haghighatzadeh M et al.

Source: Cerebellum (London, England) [Cerebellum] 2025 Jun 17; Vol. 24 (4), pp. 116. Date of Electronic Publication: 2025 Jun 17.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

Genetic Background of Epilepsy and Antiepileptic Treatments.

Authors: Borowicz-Reutt, Kinga Czernia, Julia Krawczyk, Marlena

Source: International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 22, p16280. 20p.

Index of Authors.

Source: Journal of inherited metabolic disease Sep2018 Supplement 1; Vol. 41 (1).

Journal Info: Publisher: Wiley-Blackwell ISSN: 0141-8955

Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects.

Authors: Wang PY Zhao JX Liu WH et al.

Source: Frontiers in neurology [Front Neurol] 2026 Feb 05; Vol. 17, pp. 1772239. Date of Electronic Publication: 2026 Feb 05 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Next-Generation Sequencing Technologies and Neurogenetic Diseases.

Authors: Sun, Hui Shen, Xiao-Rong Fang, Zi-Bing et al.

Source: Life (2075-1729). Apr2021, Vol. 11 Issue 4, p361-361. 1p.

A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Authors: Budhdeo S de Paiva ARB Wade C et al.

Source: Journal of neurology [J Neurol] 2022 Dec; Vol. 269 (12), pp. 6673-6677. Date of Electronic Publication: 2022 Jul 29.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

Authors: da Costa SCG Rezende Filho FM de Freitas JL et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Jun; Vol. 37 (6), pp. 1309-1316. Date of Electronic Publication: 2022 Apr 14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review.

Authors: Cui F Wulan T Zhang Q et al.

Source: Frontiers in genetics [Front Genet] 2024 Mar 06; Vol. 15, pp. 1371282. Date of Electronic Publication: 2024 Mar 06 (Print Publication: 2024).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy.

Authors: Qu G Merchant JP Clatot J et al.

Source: Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1247-1263.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.

Authors: Jin YH Xiang YZ Zhao MF et al.

Source: Molecular biology reports [Mol Biol Rep] 2024 Sep 04; Vol. 51 (1), pp. 951. Date of Electronic Publication: 2024 Sep 04.

Publication Type: Journal Article

Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review.

Authors: Tenorio RB Camargo CHF Donis KC et al.

Source: Cerebellum (London, England) [Cerebellum] 2024 Aug; Vol. 23 (4), pp. 1552-1565. Date of Electronic Publication: 2023 Nov 11.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.

Authors: M K M R J B et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63617. Date of Electronic Publication: 2024 Apr 03.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Case Report: Causative De novo Variants of KCNT2 for Developmental and Epileptic Encephalopathy.

Authors: Gong P Jiao X Yu D et al.

Source: Frontiers in genetics [Front Genet] 2021 Jun 30; Vol. 12, pp. 649556. Date of Electronic Publication: 2021 Jun 30 (Print Publication: 2021).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Lhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination.

Authors: Assi J Chyta M Mavridis I

Source: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2023 Nov; Vol. 39 (11), pp. 3295-3299. Date of Electronic Publication: 2023 Jun 27.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE