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Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter – Große Hoffnungen und unbekannte Risiken

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2020, Vol.63 (7), p.891-897

2020

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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Nature medicine, 2021-07, Vol.27 (7), p.1197-1204

2021

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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.153-153, Article 153

2021

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SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Brain (London, England : 1878), 2019-08, Vol.142 (8), p.2230-2237

2019

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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

JAMA : the journal of the American Medical Association, 2014-07, Vol.312 (1), p.68

2014

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Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

The Lancet (British edition), 2015-05, Vol.385 (9979), p.1748-1757

2015

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SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.18-18, Article 18

2019

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Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

The Journal of pathology, 2022-01, Vol.256 (1), p.93-107

2022

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Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease

Human mutation, 2022-04, Vol.43 (4), p.477-486

2022

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A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.283-291

2022

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Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages

Neuropathology and applied neurobiology, 2021-10, Vol.47 (6), p.856-866

2021

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Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

International journal of molecular sciences, 2021-08, Vol.22 (15), p.7835

2021

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Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disorders

Chronic respiratory disease, 2015-02, Vol.12 (1), p.31-35

2015

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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study

Frontiers in human neuroscience, 2020-12, Vol.14, p.560860-560860

2020

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One Year of Newborn Screening for SMA - Results of a German Pilot Project

Journal of neuromuscular diseases, 2019-01, Vol.6 (4), p.503-515

2019

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Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1216-1221

2021

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Gene replacement therapy in spinal muscular atrophy: filling the data gaps

The Lancet regional health. Europe, 2024-02, Vol.37, p.100822-100822, Article 100822

2024

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Cerebellar-dependent associative learning is preserved in Duchenne muscular dystrophy: a study using delay eyeblink conditioning

PloS one, 2015-05, Vol.10 (5), p.e0126528-e0126528

2015

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One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.42-42, Article 42

2021

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Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

Annals of clinical and translational neurology, 2021-02, Vol.8 (2), p.359-373

2021

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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

Human molecular genetics, 2013-11, Vol.22 (22), p.4602-4615

2013

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Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients

Frontiers in neurology, 2019-05, Vol.10, p.470-470

2019

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Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Human mutation, 2012-10, Vol.33 (10), p.1474-1484

2012

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Therapeutic Strategies in Congenital Myasthenic Syndromes

Neurotherapeutics, 2008-10, Vol.5 (4), p.542-547

2008

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Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter – Große Hoffnungen und unbekannte Risiken

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents

Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disorders

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study

One Year of Newborn Screening for SMA - Results of a German Pilot Project

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study

Gene replacement therapy in spinal muscular atrophy: filling the data gaps

Cerebellar-dependent associative learning is preserved in Duchenne muscular dystrophy: a study using delay eyeblink conditioning

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Therapeutic Strategies in Congenital Myasthenic Syndromes

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