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Metabolic syndrome is common in adults with 5q‐spinal muscular atrophy and impacts quality of life and fatigue

Muscle & nerve, 2024-08, Vol.70 (2), p.257-264

2024

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Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy

Annals of clinical and translational neurology, 2022-09, Vol.9 (9), p.1437-1448

2022

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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Human mutation, 2015-04, Vol.36 (4), p.395-402

2015

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Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients

Brain sciences, 2021-02, Vol.11 (3), p.296

2021

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Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

Annals of clinical and translational neurology, 2022-03, Vol.9 (3), p.351-362

2022

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

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-149, Article 149

2020

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Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy

Scientific reports, 2023-04, Vol.13 (1), p.6240-6240, Article 6240

2023

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Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.330-330, Article 330

2021

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Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.10-10, Article 10

2021

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Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

Brain sciences, 2021-03, Vol.11 (3), p.367

2021

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HMGB1 and RAGE in skeletal muscle inflammation: Implications for protein accumulation in inclusion body myositis

Experimental neurology, 2015-09, Vol.271, p.189-197

2015

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Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy

Therapeutic advances in neurological disorders, 2021, Vol.14, p.1756286421998902-1756286421998902

2021

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Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients

Genes, 2022-01, Vol.13 (1), p.84

2022

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Routine Cerebrospinal Fluid Cytology Reveals Unique Inclusions in Macrophages During Treatment With Nusinersen

Frontiers in neurology, 2019-07, Vol.10, p.735-735

2019

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Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis

Brain sciences, 2023-01, Vol.13 (1), p.110

2023

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Cognitive Performance of Patients with Adult 5q-Spinal Muscular Atrophy and with Amyotrophic Lateral Sclerosis

Brain sciences, 2020-12, Vol.11 (1), p.8

2020

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Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial

Lancet neurology, 2024-07, Vol.23 (7), p.687-699

2024

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An observational cohort study on pulmonary function in adult patients with 5q-spinal muscular atrophy under nusinersen therapy

Journal of neurology, 2023-07, Vol.270 (7), p.3616-3622

2023

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An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment

Journal of neurology, 2021-03, Vol.268 (3), p.950-962

2021

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CT-GESTUTZTE LUMBALPUNKTION BEI PATIENTEN MIT SPINALER MUSKELATROPHIE

Clinical neuroradiology (Munich), 2019-09, Vol.29 (S1), p.S36

2019

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Nusinersen bei spinaler Muskelatrophie: Klinische Anwendbarkeit bei erwachsenen Patienten mit SMA Typ II

Nervenheilkunde, 2019-06, Vol.38 (6), p.409-416

2019

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Prevalence of Anti-Adeno-Associated Virus Serotype 9 Antibodies in Adult Patients with Spinal Muscular Atrophy

Human gene therapy, 2022-09, Vol.33 (17-18), p.968-976

2022

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Metabolic syndrome is common in adults with 5q‐spinal muscular atrophy and impacts quality of life and fatigue

Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients

Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy

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

Improvement of muscle strength in specific muscular regions in nusinersen-treated adult patients with 5q-spinal muscular atrophy

Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy

Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)

Nusinersen Wearing-Off in Adult 5q-Spinal Muscular Atrophy Patients

HMGB1 and RAGE in skeletal muscle inflammation: Implications for protein accumulation in inclusion body myositis

Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy

Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients

Routine Cerebrospinal Fluid Cytology Reveals Unique Inclusions in Macrophages During Treatment With Nusinersen

Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis

A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany

Cognitive Performance of Patients with Adult 5q-Spinal Muscular Atrophy and with Amyotrophic Lateral Sclerosis

Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial

An observational cohort study on pulmonary function in adult patients with 5q-spinal muscular atrophy under nusinersen therapy

Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study

An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment

CT-GESTUTZTE LUMBALPUNKTION BEI PATIENTEN MIT SPINALER MUSKELATROPHIE

Nusinersen bei spinaler Muskelatrophie: Klinische Anwendbarkeit bei erwachsenen Patienten mit SMA Typ II

Prevalence of Anti-Adeno-Associated Virus Serotype 9 Antibodies in Adult Patients with Spinal Muscular Atrophy

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