Search Results - "Della-Ripa B"

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

Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype.

Authors: Peixoto de Barcelos I Bueno C S Godoy LF et al.

Source: Brain sciences [Brain Sci] 2023 Aug 05; Vol. 13 (8). Date of Electronic Publication: 2023 Aug 05.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101598646 Publication Model: Electronic Cited Medium: Print ISSN: 2076-3425 (Print) Linking ISSN: 20763425 NLM ISO Abbreviation: Brain Sci Subsets: PubMed not MEDLINE

Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.

Authors: Paiva ARB Pessoa ALS Nóbrega PR et al.

Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2023 May; Vol. 94 (5), pp. 405-408. Date of Electronic Publication: 2023 Feb 03.

Publication Type: Letter

Journal Info: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-330X (Electronic) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Authors: Freua F Almeida MEC Nóbrega PR et al.

Source: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2022 Sep 30. Date of Electronic Publication: 2022 Sep 30.

Publication Type: Journal Article

Journal Info: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

Corrigendum to "Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature" [Brain Dev. 42(2) (2020) 211-216].

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

Source: Brain & development [Brain Dev] 2021 May; Vol. 43 (5), pp. 671. Date of Electronic Publication: 2021 Feb 16.

Publication Type: Published Erratum

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; PubMed not MEDLINE

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

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.

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

Source: Brain & development [Brain Dev] 2020 Feb; Vol. 42 (2), pp. 211-216. Date of Electronic Publication: 2019 Oct 31.

Publication Type: Case Reports; Journal Article; Review

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