نتائج البحث

Validation of the Center for Neurologic Study Bulbar Function Scale-Chinese version in a population with amyotrophic lateral sclerosis.

• Authors : Ye S; Department of Neurology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, China.; Department of Neurology, Yan'an Hospital of Traditional Chinese Medicine, No. 26 Xuan Yuan Road, Bridge Ditch Street, Bao Ta District, Yan'an, Shaanxi Province, 716000, China.

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/physiopathology; Adult ; Aged

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 02; Vol. 19 (1), pp. 246. Date of Electronic Publication: 2024 Jul 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Accelerating drug development for amyotrophic lateral sclerosis: construction and application of a disease course model using historical placebo group data.

• Authors : Cai R; Center for Drug Clinical Research, Shanghai University of Traditional Chinese Medicine, No.1200 Cailun Road, Shanghai, 201203, China.; Yang J

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/drug therapy ; Drug Development* ; Riluzole*/Riluzole*/Riluzole*/therapeutic use

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 02; Vol. 19 (1), pp. 40. Date of Electronic Publication: 2024 Feb 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia.

• Authors : Yang X; Department of Neurology, Peking Union Medical College Hospital, 100730, Beijing, China.; Sun X

Subjects: Frontotemporal Dementia*/Frontotemporal Dementia*/Frontotemporal Dementia*/genetics ; Frontotemporal Dementia*/Frontotemporal Dementia*/Frontotemporal Dementia*/complications ; Frontotemporal Dementia*/Frontotemporal Dementia*/Frontotemporal Dementia*/epidemiology Amyotrophic lateral sclerosis 1

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 07; Vol. 17 (1), pp. 404. Date of Electronic Publication: 2022 Nov 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Assessing the role of blood pressure in amyotrophic lateral sclerosis: a Mendelian randomization study.

• Authors : Xia K; Department of Neurology, Peking University Third Hospital, Garden North Road No. 49, Beijing, 100191, China.; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China.

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics; Blood Pressure/Blood Pressure/Blood Pressure/genetics ; Genome-Wide Association Study

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Feb 16; Vol. 17 (1), pp. 56. Date of Electronic Publication: 2022 Feb 16.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Small fiber neuropathy for assessment of disease severity in amyotrophic lateral sclerosis: corneal confocal microscopy findings.

• Authors : Fu J; Department of Neurology, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, China.; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China.

Subjects: Amyotrophic Lateral Sclerosis* ; Diabetic Neuropathies*/Diabetic Neuropathies*/Diabetic Neuropathies*/diagnosis ; Small Fiber Neuropathy*

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jan 06; Vol. 17 (1), pp. 7. Date of Electronic Publication: 2022 Jan 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Leukocyte telomere length and amyotrophic lateral sclerosis: a Mendelian randomization study.

• Authors : Xia K; Department of Neurology, Peking University Third Hospital, Beijing, China.; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China.

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics; Genome-Wide Association Study ; Humans

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Dec 14; Vol. 16 (1), pp. 508. Date of Electronic Publication: 2021 Dec 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.

• Authors : Korb M; Peck A ...

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics ; Myositis, Inclusion Body* ; Osteitis Deformans*/Osteitis Deformans*/Osteitis Deformans*/genetics

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jan 29; Vol. 17 (1), pp. 23. Date of Electronic Publication: 2022 Jan 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

• Authors : de Souza PVS; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Embaú Street, 67, Vila Clementino, São Paulo, SP, 04039-060, Brazil. .; Pinto WBVR

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics ; Muscle Hypotonia*/Muscle Hypotonia*/Muscle Hypotonia*/genetics ; Superoxide Dismutase-1*/Superoxide Dismutase-1*/Superoxide Dismutase-1*/genetics

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Aug 11; Vol. 16 (1), pp. 360. Date of Electronic Publication: 2021 Aug 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Costs of illness in amyotrophic lateral sclerosis (ALS): a cross-sectional survey in Germany.

• Authors : Schönfelder E; Department of Neurology, Hannover Medical School, OE 7210, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany.; Osmanovic A

Subjects: Amyotrophic Lateral Sclerosis* ; Quality of Life*; Cost of Illness

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Jun 12; Vol. 15 (1), pp. 149. Date of Electronic Publication: 2020 Jun 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy.

• Authors : Freigang, Maren¹ (AUTHOR); Steinacker, Petra² (AUTHOR); Wurster, Claudia Diana² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 7/28/2021, Vol. 16 Issue 1, p1-11. 11p.

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