PubRank

Heinz Jungbluth

Author PubWeight™ 52.56‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain 2013 1.93
2 Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group. J Neurol Neurosurg Psychiatry 2013 1.83
3 RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010 1.75
4 Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. Dev Med Child Neurol 2013 1.75
5 Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain 2007 1.52
6 Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002 1.46
7 A short protocol for muscle MRI in children with muscular dystrophies. Eur J Paediatr Neurol 2002 1.34
8 Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 2008 1.34
9 Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 2012 1.31
10 A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol 2002 1.30
11 Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 2010 1.24
12 Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat 2012 1.15
13 Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet 2006 1.12
14 Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. Curr Opin Neurol 2005 1.11
15 Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am J Hum Genet 2006 1.07
16 Exertional hyperckemia might be the first manifestation of a genetic disorder. Muscle Nerve 2013 1.07
17 Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. Am J Med Genet A 2010 1.06
18 The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord 2009 1.05
19 White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol 2009 1.05
20 Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol 2002 1.02
21 Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord 2010 0.99
22 Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol 2011 0.98
23 Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromuscul Disord 2002 0.97
24 Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul Disord 2011 0.96
25 Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2010 0.95
26 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat 2014 0.95
27 MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Neuromuscul Disord 2006 0.95
28 Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain 2013 0.93
29 Consensus statement on standard of care for congenital myopathies. J Child Neurol 2012 0.92
30 BAG3 mutations: another cause of giant axonal neuropathy. J Peripher Nerv Syst 2012 0.91
31 Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing. Eur J Hum Genet 2013 0.90
32 King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2011 0.90
33 The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome. J Neurol Neurosurg Psychiatry 2010 0.88
34 Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet 2012 0.88
35 Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. Biochem J 2006 0.86
36 Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. Am J Med Genet B Neuropsychiatr Genet 2011 0.85
37 Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Hum Mol Genet 2010 0.85
38 Functional effects of mutations identified in patients with multiminicore disease. IUBMB Life 2007 0.84
39 A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol 2013 0.83
40 Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. Neuromuscul Disord 2013 0.83
41 Ophthalmologic features of Vici syndrome. J Pediatr Ophthalmol Strabismus 2014 0.82
42 A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium 2008 0.81
43 RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat 2013 0.81
44 Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease). Neuromuscul Disord 2008 0.81
45 Extensive white matter abnormalities associated with neonatal Parechovirus (HPeV) infection. Eur J Paediatr Neurol 2010 0.81
46 Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscul Disord 2010 0.80
47 Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet 2011 0.78
48 Myopathic causes of exercise intolerance with rhabdomyolysis. Dev Med Child Neurol 2012 0.77
49 Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. Pediatr Neurol 2010 0.77
50 Clinical utility gene card for: Central core disease. Eur J Hum Genet 2011 0.76
51 Genetic disorders of thyroid metabolism and brain development. Dev Med Child Neurol 2014 0.75