Neurological Disorders
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Records 1 - 30 (of 91 Records) |
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| Common data elements to standardize genomics studies in cerebral palsy. Wilson Yana A et al. Developmental medicine and child neurology 2022 |
| Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021. Silva Cassiano Augusto Braga et al. Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia 2022 |
| The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms. Cooper-DeHoff Rhonda M et al. Clinical pharmacology and therapeutics 2022 |
| Developing a consensus protocol for genetic testing in frontotemporal dementia. Greaves Caroline V et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2021 17 Suppl 8e052260 |
| Management of Immune-Related Adverse Events in Patients Treated With Chimeric Antigen Receptor T-Cell Therapy: ASCO Guideline. Santomasso Bianca D et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 JCO2101992 |
| Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond. Nowicki Michal et al. International journal of environmental research and public health 2021 18(16) |
| Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Gregg Anthony R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 |
| Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy. Kichula Elizabeth A et al. Muscle & nerve 2021 |
| Management of CLN1 Disease: International Clinical Consensus. Augustine Erika F et al. Pediatric neurology 2021 12038-51 |
| Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. Thompson-Stone Robert et al. Molecular genetics and metabolism 2021 |
| Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic. Bamaga Ahmed K et al. Frontiers in pediatrics 2021 9629549 |
| European Academy of Neurology/European Alzheimer's Disease Consortium position statement on diagnostic disclosure, biomarker counseling, and management of patients with mild cognitive impairment. Frederiksen Kristian Steen et al. European journal of neurology 2020 Dec |
| Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects. Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2020 Nov |
| Consensus guidelines on managing Rett syndrome across the lifespan. Fu Cary et al. BMJ paediatrics open 2020 4(1) e000717 |
| Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Klepper Joerg et al. Epilepsia open 2020 Sep 5(3) 354-365 |
| [Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]. Ziegler Andreas et al. Der Nervenarzt 2020 May |
| [Clinical practice guidelines for Long Q-T interval syndrome]. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 289-294 |
| [Clinical practice guidelines for Duchenne muscular dystrophy]. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 258-262 |
| [Clinical practice guidelines for spinal muscular atrophy]. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 263-268 |
| [Clinical practice guidelines for Rett syndrome]. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 308-312 |
| [Clinical practice guidelines for Prader-Willi syndrome]. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 318-323 |
| Clinical Practice Guidelines for Achondroplasia. Kubota Takuo et al. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2020 29(1) 25-42 |
| Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who have 4 Copies of SMN2. et al. Journal of neuromuscular diseases 2020 Jan |
| Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. Adams David et al. Journal of neurology 2020 Jan |
| Screening for Abdominal Aortic Aneurysm-A Call to Arms? Mell Matthew et al. JAMA network open 2019 Dec 2(12) e1917168 |
| European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. van de Laar Ingrid M B H et al. Orphanet journal of rare diseases 2019 Nov 14(1) 264 |
| Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov |
| Healthcare recommendations for Joubert syndrome. Bachmann-Gagescu Ruxandra et al. American journal of medical genetics. Part A 2019 Nov |
| Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care. Avery Robert A et al. Ophthalmology 2017 124(1) 123-132 |
| Clinical Consensus Guidelines on the Application of Cerebrospinal Fluid Biomarkers for Alzheimer's Disease Diagnosis: Recommendations of the Irish Network for Biomarkers in Neurodegeneration. Miller A M et al. Irish medical journal 2016 Dec 109(10) 483 |