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Showing 1 to 12 of 15 entries
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Pediatric Guillain-Barré Syndrome: Is a low amplitude of nerve action potentials always a bad omen?.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Müller-Felber W.
PMID: 28985957
Eur J Paediatr Neurol. 2017 Nov;21(6):804. doi: 10.1016/j.ejpn.2017.09.008.

No abstract available.

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.

The Lancet. Child & adolescent health

Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM.
PMID: 34756190
Lancet Child Adolesc Health. 2021 Oct 28; doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 28.

BACKGROUND: Given the novelty of gene replacement therapy with onasemnogene abeparvovec in spinal muscular atrophy, efficacy and safety data are limited, especially for children older than 24 months, those weighing more than 8·5 kg, and those who have received...

Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: a cross-sectional analysis of 55 patients.

Journal of inherited metabolic disease

Katharina V, Wolfgang MF, Timotheus L, Christian K, Nadine H, Christine K, Heike H, Günther S, Erik H, Katharina H.
PMID: 34888877
J Inherit Metab Dis. 2021 Dec 08; doi: 10.1002/jimd.12464. Epub 2021 Dec 08.

Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs. The aim of this cross-sectional study was to investigate neuromuscular complications in a cohort...

[Newborn screening program for spinal muscular atrophy].

Der Nervenarzt

Kölbel H, Vill K, Schwartz O, Blaschek A, Nennstiel U, Schara-Schmidt U, Hoffmann GF, Gläser D, Röschinger W, Bernert G, Klein A, Müller-Felber W.
PMID: 34652481
Nervenarzt. 2021 Oct 15; doi: 10.1007/s00115-021-01204-y. Epub 2021 Oct 15.

BACKGROUND: The introduction of a comprehensive newborn screening program for spinal muscular atrophy (SMA), specifically for 5q-SMA, is planned for the end of 2021 in Germany. Several targeted treatment options have become available for all patients with SMA.MATERIAL AND...

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.

The Lancet. Child & adolescent health

Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM.
PMID: 34756190
Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 29.

BACKGROUND: Given the novelty of gene replacement therapy with onasemnogene abeparvovec in spinal muscular atrophy, efficacy and safety data are limited, especially for children older than 24 months, those weighing more than 8·5 kg, and those who have received...

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.

The Lancet. Child & adolescent health

Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM.
PMID: 34756190
Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 29.

BACKGROUND: Given the novelty of gene replacement therapy with onasemnogene abeparvovec in spinal muscular atrophy, efficacy and safety data are limited, especially for children older than 24 months, those weighing more than 8·5 kg, and those who have received...

Erratum to "Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?".

Journal of neuromuscular diseases

Müller-Felber W, Vill K, Schwartz O, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Müller C, Hannibal I, Olgemöller B, Schara U, Blaschek A, Kölbel H.
PMID: 33579869
J Neuromuscul Dis. 2021;8(2):335-336. doi: 10.3233/JND-219002.

No abstract available.

Quantitative Motion Measurements Based on Markerless 3D Full-Body Tracking in Children with SMA Highly Correlate with Standardized Motor Assessments.

Journal of neuromuscular diseases

Blaschek A, Hesse N, Warken B, Vill K, Well T, Hodek C, Heinen F, Müller-Felber W, Schroeder AS.
PMID: 34308910
J Neuromuscul Dis. 2021 Jul 21; doi: 10.3233/JND-200619. Epub 2021 Jul 21.

BACKGROUND: Spinal Muscular Atrophy (SMA) is the most common neurodegenerative disease in childhood. New therapeutic interventions have been developed to interrupt rapid motor deterioration. The current standard of clinical evaluation for severely weak infants is the Children's Hospital of...

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.

The Lancet. Child & adolescent health

Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM.
PMID: 34756190
Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 29.

BACKGROUND: Given the novelty of gene replacement therapy with onasemnogene abeparvovec in spinal muscular atrophy, efficacy and safety data are limited, especially for children older than 24 months, those weighing more than 8·5 kg, and those who have received...

Quantitative Motion Measurements Based on Markerless 3D Full-Body Tracking in Children with SMA Highly Correlate with Standardized Motor Assessments.

Journal of neuromuscular diseases

Blaschek A, Hesse N, Warken B, Vill K, Well T, Hodek C, Heinen F, Müller-Felber W, Schroeder AS.
PMID: 34308910
J Neuromuscul Dis. 2022;9(1):121-128. doi: 10.3233/JND-200619.

BACKGROUND: Spinal Muscular Atrophy (SMA) is the most common neurodegenerative disease in childhood. New therapeutic interventions have been developed to interrupt rapid motor deterioration. The current standard of clinical evaluation for severely weak infants is the Children's Hospital of...

[Diagnostic considerations in muscle pain.].

Schmerz (Berlin, Germany)

Müller-Felber W, Pongratz D.
PMID: 18415608
Schmerz. 1992 Sep;6(3):206-10. doi: 10.1007/BF02528604.

Although the greatest part of the human body is composed of muscle, diseases of the muscle, such as muscular dystrophies and inflamatory or metabolic myopathies, occur invery few patients. On the other hand, myalgia is one of the most...

Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines.

Children (Basel, Switzerland)

Korinthenberg R, Trollmann R, Plecko B, Stettner GM, Blankenburg M, Weis J, Schoser B, Müller-Felber W, Lochbuehler N, Hahn G, Rudnik-Schöneborn S.
PMID: 34438578
Children (Basel). 2021 Aug 09;8(8). doi: 10.3390/children8080687.

Disorders of the peripheral nerves can be caused by a broad spectrum of acquired or hereditary aetiologies. The objective of these practice guidelines is to provide the reader with information about the differential diagnostic workup for a target-oriented diagnosis....

Showing 1 to 12 of 15 entries