Search Results - "Jansen AC"

Genetic Landscape of a Cohort of Children With Varicella Zoster Virus Encephalitis, Cerebellitis, and Stroke.

Authors: Winzig F De Keukeleere K Bartholomeus E et al.

Source: The Journal of infectious diseases [J Infect Dis] 2026 Mar 17; Vol. 233 (3), pp. 510-520.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0413675 Publication Model: Print Cited Medium: Internet ISSN: 1537-6613 (Electronic) Linking ISSN: 00221899 NLM ISO Abbreviation: J Infect Dis Subsets: MEDLINE

Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ).

Authors: Chambers N Heunis TM Gardner-Lubbe S et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jun 13; Vol. 20 (1), pp. 304. Date of Electronic Publication: 2025 Jun 13.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

Authors: De Wachter M van der Lei MB Decleve A et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 01. Date of Electronic Publication: 2026 Jul 01.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Climate change and pediatric neurology: A call to action.

Authors: Foiadelli T Wassenberg T Janssens I et al.

Corporate Authors: Foiadelli T Wassenberg T Janssens I et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2026 May; Vol. 62, pp. 43-45. Date of Electronic Publication: 2026 May 30.

Publication Type: Journal Article; Review

Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Investigation of Gait Characteristics and Kinematic Deviations in Rare Genetic Disorders with Instrumented Gait Analysis.

Authors: Kınacı-Biber E Gys L Jansen AC et al.

Source: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2025 May; Vol. 69 (5), pp. 383-392. Date of Electronic Publication: 2025 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders: A systematic review.

Authors: Rosenblum J Rijckmans E Osei R et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Apr; Vol. 28 (4), pp. 101666. Date of Electronic Publication: 2025 Dec 22.

Publication Type: Journal Article; Systematic Review; Review

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study.

Authors: Mastrangelo M Tolve M Valenzuela I et al.

Source: Seizure [Seizure] 2026 Feb; Vol. 135, pp. 46-55. Date of Electronic Publication: 2026 Jan 17.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

Development and validation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist: a three-phase mixed-methods study.

Authors: Theelen K Galasso C Cools W et al.

Source: Journal of neurodevelopmental disorders [J Neurodev Disord] 2026 Jan 30; Vol. 18 (1), pp. 7. Date of Electronic Publication: 2026 Jan 30.

Publication Type: Journal Article; Validation Study

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

Multidisciplinary management of paradoxical vocal fold movement in infants: a case series and literature review.

Authors: Aerts S Luscan R Thierry B et al.

Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2025 Dec; Vol. 199, pp. 112609. Date of Electronic Publication: 2025 Oct 18.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8464 (Electronic) Linking ISSN: 01655876 NLM ISO Abbreviation: Int J Pediatr Otorhinolaryngol Subsets: MEDLINE; In Process

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.

Authors: D'Incal CP Van Dijck A Annear DJ et al.

Source: Clinical epigenetics [Clin Epigenetics] 2025 Nov 10; Vol. 17 (1), pp. 185. Date of Electronic Publication: 2025 Nov 10.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE

Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.

Authors: Thys L Beysen D Janssens K et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109266. Date of Electronic Publication: 2025 Oct 24.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Central nervous tissue in ovarian mature teratoma: A neuropathological study of 101 resected tumors.

Authors: Shintaku, Masayuki¹ (AUTHOR) neo-masa@dream.jp

Source: Neuropathology. Apr2025, Vol. 45 Issue 2, p109-122. 14p.

Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.

Authors: Vasseghi, M. Behan, C. Connolly, A. et al.

Source: Journal of Rare Diseases. 8/19/2024, Vol. 3 Issue 1, p1-7. 7p.

"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".

Authors: Rijckmans E De Strooper L Keymolen K et al.

Source: Acta neurologica Belgica [Acta Neurol Belg] 2025 Oct; Vol. 125 (5), pp. 1347-1356. Date of Electronic Publication: 2025 Aug 04.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE

Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.

Authors: Nabbout R Belousova E Benedik MP et al.

Source: Frontiers in neurology [Front Neurol] 2021 Sep 08; Vol. 12, pp. 697467. Date of Electronic Publication: 2021 Sep 08 (Print Publication: 2021).

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

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Genomic exploration of pediatric neurological disorders: a case series.

Authors: Tayade, Naresh Manoj, Gautham Kewat, Akshay et al.

Source: Journal of Medical Case Reports. 1/31/2025, Vol. 19 Issue 1, p1-7. 7p.

A new variant confirms GNAI2 as a rare cause of periventricular nodular heterotopia.

Authors: Decio, Alice Agarwal, Nivedita Panzeri, Elena et al.

Source: Neurological Sciences. Dec2024, Vol. 45 Issue 12, p5985-5988. 4p.

Subjects: Wechsler Adult Intelligence Scale, Nucleotide sequencing, G proteins, Medical genetics, Cyclic adenylic acid

Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period.

Authors: Feodorovici K Klinkhammer H Strizek B et al.

Source: Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2026 Jun 02; Vol. 313 (1). Date of Electronic Publication: 2026 Jun 02.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 8710213 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0711 (Electronic) Linking ISSN: 09320067 NLM ISO Abbreviation: Arch Gynecol Obstet Subsets: MEDLINE

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.

Authors: Atalaia, Antonio Wandrei, Dagmar Lalout, Nawel et al.

Source: Orphanet Journal of Rare Diseases. 2/14/2024, Vol. 19 Issue 1, p1-15. 15p.