Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease. - Wikidata - awgldk - TriplyDB

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

http://www.wikidata.org/entity/Q37028358

about

A Patient as Art: Andrew Wyeth's Portrayal of Christina Olson's Neurologic Disorder in Christina's World.Intensive strength and balance training with the Kinect console (Xbox 360) in a patient with CMT1A.Recent advances in the genetic neuropathies.A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Natural history of Charcot-Marie-Tooth disease during childhood.Normative reference values for strength and flexibility of 1,000 children and adults.Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.Established and novel measures of upper limb impairment in children with Charcot-Marie-tooth disease type 1A and riboflavin transporter deficiency type 2.In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

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Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

http://www.wikidata.org/entity/Q37028358

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 04 April 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

@en

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

@nl

type

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Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

@en

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

@nl

prefLabel

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

@en

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

@nl

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JAMANEUROL.2016.0171

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Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

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David N Herrmann

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Davide Pareyson

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Emanuela Pagliano

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Francesco Muntoni

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Inherited Neuropathies Consortium

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Janet Sowden

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Joshua Burns

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Katy J Eichinger

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Kayla M D Cornett

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Manoj P Menezes

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P2860

Normative values for the Foot Posture Index

Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.

MFN2 mutations cause severe phenotypes in most patients with CMT2A.

Changes in hip and ankle range of motion and hip muscle strength in 8-11 year old novice female ballet dancers and controls: a 12 month follow up study.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth disease

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

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645-651

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scholarly article

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10.1001/JAMANEUROL.2016.0171

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6

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Isabella Moroni

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2016-04-04T00:00:00Z

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