Consensus Statement on Standard of Care for Congenital Myopathies

Dynamin 2-related centronuclear myopathy: Clinical, histological and genetic aspects of further patients and review of the literature

(2011) M. Jeub et al.   CLINICAL NEUROPATHOLOGY

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

(2011) James J. Dowling et al.   NEUROMUSCULAR DISORDERS

RYR1 mutations are a common cause of congenital myopathies with central nuclei

(2010) J.M. Wilmshurst et al.   ANNALS OF NEUROLOGY

Height Measurement Of Patients With Neuromuscular Disease And Contractures

(2010) Freeman Miller et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Complications of Growing-Rod Treatment for Early-Onset Scoliosis

(2010) Shay Bess et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

(2010) Ching H. Wang et al.   JOURNAL OF CHILD NEUROLOGY

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3

(2010) Leigh B Waddell et al.   NEUROMUSCULAR DISORDERS

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

(2010) Rachel D. Susman et al.   NEUROMUSCULAR DISORDERS

Pain in Youths With Neuromuscular Disease

(2009) Joyce M. Engel et al.   American Journal of Hospice & Palliative Medicine

The Association of Malignant Hyperthermia and Unusual Disease: When You’re Hot You’re Hot or Maybe Not

(2009) Peter J. Davis et al.   ANESTHESIA AND ANALGESIA

Core Myopathies and Risk of Malignant Hyperthermia

(2009) Werner Klingler et al.   ANESTHESIA AND ANALGESIA

Genetic variation in RYR1 and malignant hyperthermia phenotypes

(2009) D. Carpenter et al.   BRITISH JOURNAL OF ANAESTHESIA

Pathological defects in congenital myopathies

(2009) Caroline A. Sewry   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Autosomal dominant nemaline myopathy caused by a novel α-tropomyosin 3 mutation

(2009) I. C. Kiphuth et al.   JOURNAL OF NEUROLOGY

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008

(2009) Nigel G. Laing et al.   NEUROMUSCULAR DISORDERS

Sleep, sleep disordered breathing, and nocturnal hypoventilation in children with neuromuscular diseases

(2009) Raanan Arens et al.   Paediatric Respiratory Reviews

Dementia in a Child with Myotubular Myopathy

(2009) Heather J. McCrea et al.   PEDIATRIC NEUROLOGY

Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia

(2008) Demetra S. Stamm et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations inTPM3are a common cause of congenital fiber type disproportion

(2008) Nigel F. Clarke et al.   ANNALS OF NEUROLOGY

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

(2008) Ulrike Schara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

(2008) M. Kinali et al.   JOURNAL OF NEUROIMMUNOLOGY

SPORADIC LATE-ONSET NEMALINE MYOPATHY EFFECTIVELY TREATED BY MELPHALAN AND STEM CELL TRANSPLANT

(2008) N. C. Voermans et al.   NEUROLOGY

What’s new in congenital myopathies?

(2008) Kathryn North   NEUROMUSCULAR DISORDERS

Centronuclear (myotubular) myopathy

(2008) Heinz Jungbluth et al.   Orphanet Journal of Rare Diseases

Planning for Health Care Transitions: Results From the 2005-2006 National Survey of Children With Special Health Care Needs

(2008) D. S. Lotstein et al.   PEDIATRICS