Search Results - "Orbach, Rotem"

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

Authors: Orbach, Rotem Maio, Nunziata Butterfield, Russell J. et al.

Source: Annals of Clinical & Translational Neurology. Sep2025, Vol. 12 Issue 9, p1834-1845. 12p.

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy.

Authors: Orbach, Rotem Donkervoort, Sandra Hedberg‐Oldfors, Carola et al.

Source: Annals of Clinical & Translational Neurology. May2026, p1. 13p. 4 Illustrations.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Authors: Foley, A Reghan Bolduc, Véronique Guirguis, Fady et al.

Source: Brain: A Journal of Neurology; Sep2025, Vol. 148 Issue 9, p3215-3227, 13p

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.

Authors: Maio, Nunziata Orbach, Rotem Zaharieva, Irina T. et al.

Source: Journal of Clinical Investigation. 6/17/2024, Vol. 134 Issue 12, p1-16. 16p.

Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy.

Authors: Orbach, Rotem Sagi, Liora Sadot, Efraim et al.

Source: Muscle & Nerve. Dec2022, Vol. 66 Issue 6, p762-766. 5p.

Comparison of Disease Activity in SPMS and PPMS in the Context of Multicenter Clinical Trials.

Authors: Orbach, Rotem Zhenming Zhao Yong-Cheng Wang et al.

Source: PLoS ONE. Oct2012, Vol. 7 Issue 10, Special section p1-10. 10p.

The Clinical Utility of Inpatient Brain Magnetic Resonance Imaging in Children.

Authors: Tokatly Latzer, Itay Orbach, Rotem Ben-Sira, Liat et al.

Source: Journal of Child Neurology. Oct2020, Vol. 35 Issue 11, p744-752. 9p.

Outpatient Management of Headache after Pediatric Emergency Department Visit: Are we Missing Anything?

Authors: Glatstein, Miguel Voliovitch, Yair Orbach, Rotem et al.

Source: Headache: The Journal of Head & Face Pain. Oct2019, Vol. 59 Issue 9, p1530-1536. 7p. 2 Charts.

Subjects: Headache diagnosis, Headache treatment, Diagnosis of brain abnormalities, Hospital admission & discharge, Patient aftercare, Hospital emergency services, Outpatient services in hospitals, Magnetic resonance imaging, Medical appointments, Medical records, Neurology, Ophthalmologists, Ophthalmoscopy, Patients, Patient safety, Pediatrics, Physical diagnosis, Symptoms, Discharge planning, Retrospective studies, Acquisition of data methodology

Increased Intracranial Pressure in Acute Disseminated Encephalomyelitis.

Authors: Orbach, Rotem Schneebaum Sender, Nira Lubetzky, Ronit et al.

Source: Journal of Child Neurology. Feb2019, Vol. 34 Issue 2, p99-103. 5p.

Pulmonary hemorrhage due to Coxsackievirus B infection—A call to raise suspicion of this important complication as an end-stage of enterovirus sepsis in preterm twin neonates.

Authors: Orbach, Rotem Mandel, Dror Lubetzky, Ronit et al.

Source: Journal of Clinical Virology. Sep2016, Vol. 82, p41-45. 5p.

Interleukin-12p40 in the spinal fluid as a biomarker for clinically isolated syndrome.

Authors: Orbach, Rotem Gurevich, Michael Achiron, Anat

Source: Multiple Sclerosis Journal. Jan2014, Vol. 20 Issue 1, p35-42. 8p.

Variable Genotype–Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.

Authors: Tokatly Latzer, Itay Sagi, Liora Bali, Deeksha Sarihyan et al.

Source: Neuropediatrics. 2021, Vol. 52 Issue 6, p475-479. 5p.

The safety, tolerability, and effectiveness of PTL-101, an oral cannabidiol formulation, in pediatric intractable epilepsy: A phase II, open-label, single-center study.

Authors: Mitelpunkt, Alexis Kramer, Uri Hausman Kedem, Moran et al.

Source: Epilepsy & Behavior. Sep2019:Part A, Vol. 98, p233-237. 5p.

Maternal and neonatal hyponatremia during labor: a case series.

Authors: Solomon, Neta Many, Ariel Shinar, Shiri et al.

Source: Journal of Maternal-Fetal & Neonatal Medicine. Aug2019, Vol. 32 Issue 16, p2711-2715. 5p.

Is There a Role for Placental Cultures in Cases of Clinical Chorioamnionitis Complicating Preterm Premature Rupture of Membranes?

Authors: Fouks, Yuval Many, Ariel Shinar, Shiri et al.

Source: American Journal of Perinatology. 2017, Vol. 34 Issue 9, p867-873. 7p.

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Authors: Silverstein S Ganapathy K Donkervoort S et al.

Source: Research square [Res Sq] 2026 Jan 29. Date of Electronic Publication: 2026 Jan 29.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

An international retrospective early natural history study of LAMA2-related dystrophies.

Authors: Hinkley L Orbach R Park J et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024 Nov; Vol. 11 (6), pp. 1238-1246.

Publication Type: Journal Article

Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Authors: Donkervoort S van de Locht M Ronchi D et al.

Source: Science translational medicine [Sci Transl Med] 2024 Apr 03; Vol. 16 (741), pp. eadg2841. Date of Electronic Publication: 2024 Apr 03.

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

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Authors: Sagath L Kiiski K Naidu K et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Sep; Vol. 33 (9), pp. 1153-1162. Date of Electronic Publication: 2025 Jun 14.

Publication Type: Journal Article; Review

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

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

Authors: De Winter J Van de Vondel L Ermanoska B et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Jun; Vol. 27 (6), pp. 101399. Date of Electronic Publication: 2025 Feb 26.

Publication Type: Journal Article

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