Search Results - "Heimer G"

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Authors: Heimer, G. Marek‐Yagel, D. Eyal, E. et al.

Source: Clinical Genetics. Oct2015, Vol. 88 Issue 4, p327-335. 9p. 1 Black and White Photograph, 3 Diagrams, 1 Chart, 1 Graph.

Not-so-poor railroads.

Authors: Heimer, G. L.

Source: Trusts & Estates; December 1956, Vol. 95, p1117-1118, 2p

DiHA Dextran Copolymer, a new biocompatible material for endoscopic treatment of stress incontinent women. Short term results.

Authors: Stenberg, Åsa Larsson, Gregor Johnson, Per et al.

Source: Acta Obstetricia et Gynecologica Scandinavica. May1999, Vol. 78 Issue 5, p436-442. 7p. 1 Black and White Photograph, 1 Chart.

Severe ADEM-Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype.

Authors: Bar-Hakim M Abramovich A Via-Dorembus S et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jun 23. Date of Electronic Publication: 2026 Jun 23.

Publication Type: Case Reports; Journal Article

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

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Authors: Chorin O Greenbaum L Lev-Hochberg S et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 18; Vol. 20 (1), pp. 132. Date of Electronic Publication: 2025 Mar 18.

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

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Authors: Poleg T Hadar N Heimer G et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Mar 13; Vol. 10 (1), pp. 23. Date of Electronic Publication: 2025 Mar 13.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.

Authors: Heimer G Pode-Shakked B Marek-Yagel D et al.

Source: Clinical genetics [Clin Genet] 2025 Feb; Vol. 107 (2), pp. 179-187. Date of Electronic Publication: 2024 Oct 19.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

High-dose diazepam as a long-term treatment strategy for epileptic encephalopathy and developmental epileptic encephalopathy spike-and-wave activation in sleep: A tertiary center's experience.

Authors: Hamed N Dayan EZ Heimer G et al.

Source: Epilepsy & behavior : E&B [Epilepsy Behav] 2025 Oct; Vol. 171, pp. 110482. Date of Electronic Publication: 2025 May 21.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 100892858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-5069 (Electronic) Linking ISSN: 15255050 NLM ISO Abbreviation: Epilepsy Behav Subsets: MEDLINE

Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts.

Authors: Arkush L van Woerden GM Ziv L et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Oct; Vol. 33 (10), pp. 1271-1280. Date of Electronic Publication: 2025 Jul 31.

Publication Type: Journal Article; Case Reports

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

Cognitive Outcome in Young Adults after Resolution of Epilepsy in Childhood.

Authors: Megreli J Arkush L Derazne E et al.

Source: Annals of neurology [Ann Neurol] 2025 Jul; Vol. 98 (1), pp. 62-66. Date of Electronic Publication: 2025 May 22.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Novel method for detection of UBE3A protein in CSF from individuals with Angelman syndrome.

Authors: Mabrouk OS Comfort Harris NT Komorowski RW et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Jul; Vol. 145 (3), pp. 109132. Date of Electronic Publication: 2025 May 02.

Publication Type: Journal Article

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

Short Stature and Distinct Growth Characteristics in Angelman Syndrome.

Authors: Gruber N Daka A Lapidot N et al.

Source: Hormone research in paediatrics [Horm Res Paediatr] 2024; Vol. 97 (4), pp. 334-342. Date of Electronic Publication: 2023 Oct 16.

Publication Type: Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

Authors: Saleh MA Boichuck M Ottolenghi A et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Jun 24; Vol. 26 (13). Date of Electronic Publication: 2025 Jun 24.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Perampanel as precision therapy in rare genetic epilepsies.

Authors: Nissenkorn A Kluger G Schubert-Bast S et al.

Source: Epilepsia [Epilepsia] 2023 Apr; Vol. 64 (4), pp. 866-874. Date of Electronic Publication: 2023 Feb 20.

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

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.

Authors: Kagan M Semo-Oz R Ben Moshe Y et al.

Source: Frontiers in genetics [Front Genet] 2023 Jan 09; Vol. 13, pp. 1018062. Date of Electronic Publication: 2023 Jan 09 (Print Publication: 2022).

Publication Type: 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

Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder.

Authors: Shomer I Mor N Raviv S et al.

Source: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2024 Dec 22; Vol. 36 (1), pp. 102432. Date of Electronic Publication: 2024 Dec 22 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium: Print ISSN: 2162-2531 (Print) Linking ISSN: 21622531 NLM ISO Abbreviation: Mol Ther Nucleic Acids Subsets: PubMed not MEDLINE

Felbamate for pediatric epilepsy-should we keep on using it as the last resort?

Authors: Rabinowicz S Schreiber T Heimer G et al.

Source: Frontiers in neurology [Front Neurol] 2022 Sep 20; Vol. 13, pp. 979725. Date of Electronic Publication: 2022 Sep 20 (Print Publication: 2022).

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

A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation.

Authors: Tamim-Yecheskel BC Fraiberg M Kokabi K et al.

Source: Autophagy [Autophagy] 2021 Oct; Vol. 17 (10), pp. 3082-3095. Date of Electronic Publication: 2020 Dec 10.

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

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265188 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1554-8635 (Electronic) Linking ISSN: 15548627 NLM ISO Abbreviation: Autophagy Subsets: MEDLINE

Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2.

Authors: Fraiberg M Tamim-Yecheskel BC Kokabi K et al.

Source: Autophagy [Autophagy] 2021 Oct; Vol. 17 (10), pp. 3096-3108. Date of Electronic Publication: 2020 Nov 29.

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

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265188 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1554-8635 (Electronic) Linking ISSN: 15548627 NLM ISO Abbreviation: Autophagy Subsets: MEDLINE

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Authors: Neuser S Brechmann B Heimer G et al.

Source: Human mutation [Hum Mutat] 2021 Jun; Vol. 42 (6), pp. 762-776. Date of Electronic Publication: 2021 May 11.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE