Functional Assessment for non-ambulatory people with spinal muscular atrophy and Duchenne muscular dystrophy. Validation of the scale Egen Klassifikation 2 Scale

Developmental Medicine & Child Neurology ◽

10.1111/dmcn.12780_39 ◽

2015 ◽

Vol 57 ◽

pp. 40-40

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Functional Assessment ◽

Muscular Atrophy

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Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy

Physiotherapy Research International ◽

10.1002/pri.221 ◽

2001 ◽

Vol 6 (3) ◽

pp. 119-134 ◽

Author(s):

Birgit Steffensen ◽

Sylvia Hyde ◽

Søren Lyager ◽

Eva Mattsson

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Functional Assessment ◽

Muscular Atrophy

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Integrating pediatric palliative care across the spectrum of life threatening pediatric neuromuscular disorders focused on Spinal muscular atrophy type I and Duchenne muscular dystrophy

Neuropediatrics ◽

10.1055/s-0031-1274094 ◽

2011 ◽

Vol 42 (S 01) ◽

Author(s):

M von der Hagen ◽

M Smitka ◽

A Pyper ◽

M Breiting ◽

A Müller ◽

...

Keyword(s):

Palliative Care ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Neuromuscular Disorders ◽

Pediatric Palliative Care ◽

Type I ◽

Spinal Muscular Atrophy Type ◽

Life Threatening

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Restoring Protein Expression in Neuromuscular Conditions: A Review Assessing the Current State of Exon Skipping/Inclusion and Gene Therapies for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy

BioDrugs ◽

10.1007/s40259-021-00486-7 ◽

2021 ◽

Author(s):

Omar Sheikh ◽

Toshifumi Yokota

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Protein Expression ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Exon Skipping ◽

Gene Therapies ◽

Current State ◽

Neuromuscular Conditions

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S.P.16 Egen classification scale (Ek) for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Validity and reliability study of the Turkish version

Neuromuscular Disorders ◽

10.1016/j.nmd.2012.06.291 ◽

2012 ◽

Vol 22 (9-10) ◽

pp. 891 ◽

Author(s):

A. Karaduman ◽

G.I. Yatar ◽

I. Alemdaroglu ◽

O. Yilmaz ◽

H. Topaloglu

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Validity And Reliability ◽

Turkish Version ◽

Reliability Study

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Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy

Frontiers in Genetics ◽

10.3389/fgene.2021.684042 ◽

2021 ◽

Vol 12 ◽

Author(s):

Yu Xia ◽

Yijie Feng ◽

Lu Xu ◽

Xiaoyang Chen ◽

Feng Gao ◽

...

Keyword(s):

Case Report ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Muscular Atrophy ◽

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P1.31 Outcome measures in animal models of mild spinal muscular atrophy and duchenne muscular dystrophy: Introducing a novel standardized physical activity paradigm and a proprietary in vivo behavior screening platform (SmartCube) in adult rodents

Neuromuscular Disorders ◽

10.1016/j.nmd.2011.06.791 ◽

2011 ◽

Vol 21 (9-10) ◽

pp. 650-651

Author(s):

B.F. El-Khodor ◽

M. Patry ◽

A. Kudwa ◽

A. Chen ◽

D. Gomez ◽

...

Keyword(s):

Physical Activity ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Animal Models ◽

Spinal Muscular Atrophy ◽

Outcome Measures ◽

Muscular Atrophy ◽

Behavior Screening ◽

Screening Platform

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Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family

Clinical Genetics ◽

10.1111/j.1399-0004.1994.tb04002.x ◽

2008 ◽

Vol 45 (2) ◽

pp. 97-103

Author(s):

Anders Oldfors ◽

Tommy Martinsson ◽

Ingemar Tessin ◽

Jan Wahlström ◽

Shu Wang

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Type I ◽

Spinal Muscular Atrophy Type

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Relationships between hand strength and motor abilities in non-ambulant patients with Duchenne muscular dystrophy or spinal muscular atrophy

Annals of Physical and Rehabilitation Medicine ◽

10.1016/j.rehab.2018.05.380 ◽

2018 ◽

Vol 61 ◽

pp. e167

Author(s):

V. Decostre ◽

M. Anoussamy ◽

M. De Antonio ◽

A. Canal ◽

L. Servais ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Hand Strength ◽

Motor Abilities

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Evaluation of immunoregulatory cells in Duchenne muscular dystrophy and spinal muscular atrophy among African and Indian patients

Journal of the Neurological Sciences ◽

10.1016/0022-510x(88)90129-3 ◽

1988 ◽

Vol 84 (2-3) ◽

pp. 247-255 ◽

Author(s):

P. Kiepiela ◽

A.A. Dawood ◽

A. Moosa ◽

H.M. Coovadia ◽

P. Coward

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Indian Patients ◽

Immunoregulatory Cells

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Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy

World Journal of Pediatrics ◽

10.1007/s12519-019-00242-6 ◽

2019 ◽

Vol 15 (3) ◽

pp. 219-225 ◽

Author(s):

Qing Ke ◽

Zheng-Yan Zhao ◽

Jerry R. Mendell ◽

Mei Baker ◽

Veronica Wiley ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Newborn Screening ◽

Muscular Atrophy

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