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Academic Journal

Flemish network on rare connective tissue diseases (CTD): patient pathways in systemic sclerosis. First steps taken.

  • Authors : Piette Y; Department of Rheumatology, Ghent University Hospital, Ghent, Belgium.; Department of Internal Medicine, Ghent University, Ghent, Belgium.

Subjects: Scleroderma, Systemic*/Scleroderma, Systemic*/Scleroderma, Systemic*/diagnosis ; Scleroderma, Systemic*/Scleroderma, Systemic*/Scleroderma, Systemic*/therapy ; Connective Tissue Diseases*/Connective Tissue Diseases*/Connective Tissue Diseases*/diagnosis

  • Source: Acta clinica Belgica [Acta Clin Belg] 2024 Feb; Vol. 79 (1), pp. 26-33. Date of Electronic Publication: 2024 Jan 02.Publisher: Taylor & Francis Country of Publication: England NLM ID: 0370306 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Diagnosis of cystic lung diseases: a position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network.

  • Authors : Johnson SR; Respiratory Medicine, University of Nottingham, Nottingham, UK .; Shaw DE

Subjects: Lung Diseases*/Lung Diseases*/Lung Diseases*/etiology ; Lung Diseases, Interstitial*/Lung Diseases, Interstitial*/Lung Diseases, Interstitial*/diagnosis ; Cysts*/Cysts*/Cysts*/diagnosis Cystic Disease Of Lung

  • Source: Thorax [Thorax] 2024 Mar 15; Vol. 79 (4), pp. 366-377. Date of Electronic Publication: 2024 Mar 15.Publisher: British Medical Assn Country of Publication: England NLM ID: 0417353 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Akkermansia muciniphila improves chronic colitis-induced enteric neuroinflammation in mice.

  • Authors : Yilmaz O; Department of Physiology, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Okullu SO

Subjects: Colitis*/Colitis*/Colitis*/chemically induced ; Colitis*/Colitis*/Colitis*/therapy ; Inflammatory Bowel Diseases*/Inflammatory Bowel Diseases*/Inflammatory Bowel Diseases*/complications Akkermansia muciniphila

  • Source: Neurogastroenterology and motility [Neurogastroenterol Motil] 2024 Mar; Vol. 36 (3), pp. e14745. Date of Electronic Publication: 2024 Jan 23.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9432572 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).

Subjects: Delivery of Health Care* ; Nervous System Diseases*/Nervous System Diseases*/Nervous System Diseases*/diagnosis ; Nervous System Diseases*/Nervous System Diseases*/Nervous System Diseases*/therapy

  • Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Mar; Vol. 45 (3), pp. 1007-1016. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review.

Subjects: COVID-19*/COVID-19*/COVID-19*/epidemiology ; Dystonia* ; Phenylketonurias*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 21; Vol. 19 (1), pp. 81. Date of Electronic Publication: 2024 Feb 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Targeting Neuroinflammation by Pharmacologic Downregulation of Inflammatory Pathways Is Neuroprotective in Protein Misfolding Disorders.

  • Authors : Risen SJ; Department of Environmental and Radiological Health Sciences, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, Colorado 80523, United States.; Brain Research Center, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, Colorado 80523, United States.

Subjects: Neurodegenerative Diseases*/Neurodegenerative Diseases*/Neurodegenerative Diseases*/metabolism ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/metabolism ; Parkinson Disease*/Parkinson Disease*/Parkinson Disease*/metabolism

  • Source: ACS chemical neuroscience [ACS Chem Neurosci] 2024 Apr 03; Vol. 15 (7), pp. 1533-1547. Date of Electronic Publication: 2024 Mar 20.Publisher: American Chemical Society Country of Publication: United States NLM ID: 101525337 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.

  • Authors : Atalaia A; Inserm Center of Research in Myology, Neuro-Myology Service G.H. Pitié-Salpêtrière, Sorbonne Université, Paris, France. .; Wandrei D

Subjects: Neuromuscular Diseases*/Neuromuscular Diseases*/Neuromuscular Diseases*/genetics; Humans ; Registries

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 14; Vol. 19 (1), pp. 66. Date of Electronic Publication: 2024 Feb 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases.

  • Authors : Graessner H; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. .; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany. .

Subjects: Nervous System Diseases*/Nervous System Diseases*/Nervous System Diseases*/diagnosis ; Nervous System Diseases*/Nervous System Diseases*/Nervous System Diseases*/therapy ; Neurology*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 13; Vol. 19 (1), pp. 62. Date of Electronic Publication: 2024 Feb 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.

  • Authors : Tirelli C; Respiratory Unit, ASST Santi Paolo e Carlo, Department of Health Sciences, University of Milan, 20142 Milan, Italy.; Rondinone O

Subjects: Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/genetics ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/metabolism ; Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/Niemann-Pick Disease, Type A*/therapy

  • Source: Biomolecules [Biomolecules] 2024 Feb 11; Vol. 14 (2). Date of Electronic Publication: 2024 Feb 11.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X

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Academic Journal

Single-cell analysis of refractory anti-SRP necrotizing myopathy treated with anti-BCMA CAR-T cell therapy.

  • Authors : Qin C; Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.; Hubei Key Laboratory of Neural Injury and Functional Reconstruction, Huazhong University of Science and Technology, Wuhan 430030, China.

Subjects: Receptors, Chimeric Antigen* ; Multiple Myeloma*/Multiple Myeloma*/Multiple Myeloma*/drug therapy ; Autoimmune Diseases*/Autoimmune Diseases*/Autoimmune Diseases*/therapy

  • Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Feb 06; Vol. 121 (6), pp. e2315990121. Date of Electronic Publication: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet

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  • 1-10 of  9,020,199 results for "%22DISEASES%22"