Search Results - "Forman EB"

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors: Cif L Demailly D Lin JP et al.

Corporate Authors: Cif L Demailly D Lin JP et al.

Source: ArXiv [ArXiv] 2025 Feb 10. Date of Electronic Publication: 2025 Feb 10.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101759493 Publication Model: Electronic Cited Medium: Internet ISSN: 2331-8422 (Electronic) Linking ISSN: 23318422 NLM ISO Abbreviation: ArXiv Subsets: PubMed not MEDLINE

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population.

Authors: Forman EB Lynch SA Knerr I et al.

Source: European journal of pediatrics [Eur J Pediatr] 2023 Jan; Vol. 182 (1), pp. 31-40. Date of Electronic Publication: 2022 Nov 14.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

NRXN1α^+/- is associated with increased excitability in ASD iPSC-derived neurons.

Authors: Avazzadeh S Quinlan LR Reilly J et al.

Source: BMC neuroscience [BMC Neurosci] 2021 Sep 15; Vol. 22 (1), pp. 56. Date of Electronic Publication: 2021 Sep 15.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100966986 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2202 (Electronic) Linking ISSN: 14712202 NLM ISO Abbreviation: BMC Neurosci Subsets: MEDLINE

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors: Cif L Demailly D Lin JP et al.

Corporate Authors: Cif L Demailly D Lin JP et al.

Source: Brain : a journal of neurology [Brain] 2020 Dec 05; Vol. 143 (11), pp. 3242-3261.

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

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

FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.

Authors: Forman EB Gorman KM Ennis S et al.

Source: Journal of child neurology [J Child Neurol] 2019 Sep; Vol. 34 (10), pp. 621. Date of Electronic Publication: 2019 May 19.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.

Authors: Forman EB King MD Gorman KM

Source: Archives of disease in childhood. Education and practice edition [Arch Dis Child Educ Pract Ed] 2021 Apr; Vol. 106 (2), pp. 71-77. Date of Electronic Publication: 2020 Sep 14.

Publication Type: Journal Article

Journal Info: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101220684 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1743-0593 (Electronic) Linking ISSN: 17430585 NLM ISO Abbreviation: Arch Dis Child Educ Pract Ed Subsets: MEDLINE

Diagnostic Limitations in Congenital Zika Virus Infection.

Authors: Flanagan M Hughes H Forman EB et al.

Source: Irish medical journal [Ir Med J] 2020 Jun 11; Vol. 113 (6), pp. 101. Date of Electronic Publication: 2020 Jun 11.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Irish Medical Association Country of Publication: Ireland NLM ID: 0430275 Publication Model: Electronic Cited Medium: Internet ISSN: 0332-3102 (Print) Linking ISSN: 03323102 NLM ISO Abbreviation: Ir Med J Subsets: MEDLINE

X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.

Authors: Shaughnessy N Forman EB O'Rourke D et al.

Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Jan; Vol. 30 (1), pp. 35-37. Date of Electronic Publication: 2019 Nov 14.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Increased Ca²⁺ signaling in NRXN1α^+/- neurons derived from ASD induced pluripotent stem cells.

Authors: Avazzadeh S McDonagh K Reilly J et al.

Source: Molecular autism [Mol Autism] 2019 Dec 30; Vol. 10, pp. 52. Date of Electronic Publication: 2019 Dec 30 (Print Publication: 2019).

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101534222 Publication Model: eCollection Cited Medium: Internet ISSN: 2040-2392 (Electronic) NLM ISO Abbreviation: Mol Autism Subsets: MEDLINE

"No-No" Head Tremor-A Nod to the Diagnosis.

Authors: Terry C Forman EB Gorman KM et al.

Source: Pediatric neurology [Pediatr Neurol] 2019 Nov; Vol. 100, pp. 104. Date of Electronic Publication: 2019 Mar 19.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.

Authors: Al Shehhi M Forman EB Fitzgerald JE et al.

Source: European journal of medical genetics [Eur J Med Genet] 2019 Mar; Vol. 62 (3), pp. 204-209. Date of Electronic Publication: 2018 Jul 18.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Dramatic Improvement of a Rare Syndrome With High Dose Riboflavin Treatment.

Authors: Forman EB Foley AR King MD

Source: Pediatric neurology [Pediatr Neurol] 2018 Sep; Vol. 86, pp. 77-78. Date of Electronic Publication: 2018 Jun 01.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?

Authors: Forman EB Gorman KM Conroy J et al.

Source: Archives of disease in childhood [Arch Dis Child] 2018 Mar; Vol. 103 (3), pp. 304. Date of Electronic Publication: 2017 Sep 22.

Publication Type: Journal Article

Journal Info: Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE

Interferonopathies in laboratory-negative suspected congenital infection.

Authors: Forman EB King MD Allen NM

Source: The Lancet. Infectious diseases [Lancet Infect Dis] 2018 Jan; Vol. 18 (1), pp. 27. Date of Electronic Publication: 2017 Dec 20.

Publication Type: Journal Article; Comment

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 101130150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-4457 (Electronic) Linking ISSN: 14733099 NLM ISO Abbreviation: Lancet Infect Dis Subsets: MEDLINE

Idiopathic intracranial hypertension associated with iron-deficiency anaemia.

Authors: Forman EB O'Byrne JJ Capra L et al.

Source: Archives of disease in childhood [Arch Dis Child] 2013 Jun; Vol. 98 (6), pp. 418. Date of Electronic Publication: 2013 Feb 14.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: BMJ Pub. Group [etc.] Country of Publication: England NLM ID: 0372434 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2044 (Electronic) Linking ISSN: 00039888 NLM ISO Abbreviation: Arch Dis Child Subsets: MEDLINE