Search Results - "Preisel M"

A20 (TNFAIP3) Distinguishes Relapse from Remission in Pediatric Patients with Monophasic MOGAD: Preliminary Results.

Authors: Lechner, C. Saxena, S. Lokhande, H. et al.

Source: Neuropediatrics. 2023 Supplement 1, Vol. 54, pS1-S32. 32p.

Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.

Authors: Disse S Ramantani G Küpper H et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jul 02; Vol. 20 (1), pp. 336. Date of Electronic Publication: 2025 Jul 02.

Publication Type: Journal Article; Observational Study

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

A20 (TNFAIP3) Distinguishes Attack From Remission in Pediatric Patients With Monophasic MOGAD.

Authors: Lechner C Saxena S Lokhande HA et al.

Source: Neurology(R) neuroimmunology & neuroinflammation [Neurol Neuroimmunol Neuroinflamm] 2025 Sep; Vol. 12 (5), pp. e200452. Date of Electronic Publication: 2025 Aug 18.

Publication Type: Journal Article

Journal Info: Publisher: Wolters Kluwer Health/Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101636388 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2332-7812 (Electronic) Linking ISSN: 23327812 NLM ISO Abbreviation: Neurol Neuroimmunol Neuroinflamm Subsets: MEDLINE

Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.

Authors: Feichtinger RG Preisel M Brugger K et al.

Source: Genes [Genes (Basel)] 2023 Jun 02; Vol. 14 (6). Date of Electronic Publication: 2023 Jun 02.

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

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Authors: Ebstein F Küry S Most V et al.

Source: Science translational medicine [Sci Transl Med] 2023 May 31; Vol. 15 (698), pp. eabo3189. Date of Electronic Publication: 2023 May 31.

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

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.

Authors: Disse SC Küpper H Bock A et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2025 Jan; Vol. 54, pp. 200-209. Date of Electronic Publication: 2025 Feb 11.

Publication Type: Journal Article; Multicenter Study; Observational Study

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

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.

Authors: Feichtinger RG Preisel M Steinbrücker K et al.

Source: Genes [Genes (Basel)] 2022 Nov 23; Vol. 13 (12). Date of Electronic Publication: 2022 Nov 23.

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

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Cerebrospinal Fluid Cytology in Lyme Neuroborreliosis Revisited-Role of Neutrophilic Granulocytes: A Retrospective Single-Center Study.

Authors: Otto F Wipfler P Hitzl W et al.

Source: Journal of clinical medicine [J Clin Med] 2024 Dec 05; Vol. 13 (23). Date of Electronic Publication: 2024 Dec 05.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.

Authors: Peternell A Lechner C Breu M et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 May; Vol. 50, pp. 86-95. Date of Electronic Publication: 2024 Apr 24.

Publication Type: Journal Article

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

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.

Authors: Thalwitzer KM Driedger JH Xian J et al.

Source: Neurology [Neurology] 2023 Aug 29; Vol. 101 (9), pp. e879-e891. Date of Electronic Publication: 2023 Jul 05.

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

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.

Authors: Spenger J Maier EM Wechselberger K et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2021 Dec 31; Vol. 8 (1). Date of Electronic Publication: 2021 Dec 31.

Publication Type: Published Erratum

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

Authors: Spenger J Maier EM Wechselberger K et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2021 Jun 18; Vol. 7 (2). Date of Electronic Publication: 2021 Jun 18.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Authors: Schröder S Li Y Yigit G et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 341-351. Date of Electronic Publication: 2020 Oct 07.

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

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

Positive troponin T without cardiac involvement in inclusion body myositis.

Authors: Schwarzmeier JD Hamwi A Preisel M et al.

Source: Human pathology [Hum Pathol] 2005 Aug; Vol. 36 (8), pp. 917-21.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: W B Saunders Country of Publication: United States NLM ID: 9421547 Publication Model: Print Cited Medium: Print ISSN: 0046-8177 (Print) Linking ISSN: 00468177 NLM ISO Abbreviation: Hum Pathol Subsets: MEDLINE

Calculation of Coulomb-mediated carrier-capture times.

Authors: Preisel M Mork J Haug H

Source: Physical review. B, Condensed matter [Phys Rev B Condens Matter] 1994 May 15; Vol. 49 (20), pp. 14478-14485.

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Physical Society by the American Institute of Physics Country of Publication: United States NLM ID: 9878217 Publication Model: Print Cited Medium: Print ISSN: 0163-1829 (Print) Linking ISSN: 01631829 NLM ISO Abbreviation: Phys Rev B Condens Matter Subsets: PubMed not MEDLINE