PubRank

H Lochmüller

Author PubWeight™ 98.68‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord 2011 2.47
2 The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants. Gene Ther 1995 2.39
3 An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001 1.65
4 Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain 2008 1.65
5 Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 2006 1.62
6 Inflammatory demyelinating neuropathy in patients with end-stage renal disease receiving continuous ambulatory peritoneal dialysis (CAPD) Perit Dial Int 1998 1.43
7 High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. J Neurol 2008 1.37
8 Coenzyme Q10 deficiency and isolated myopathy. Neurology 2006 1.32
9 High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled study. J Neurol 2000 1.30
10 Radiation dose and leukemia risk in patients treated for cancer of the cervix. J Natl Cancer Inst 1987 1.28
11 Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. Brain 2007 1.26
12 Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003 1.24
13 Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet 2001 1.24
14 FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. J Med Genet 2004 1.24
15 Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J Neurol Neurosurg Psychiatry 2006 1.21
16 EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 2007 1.20
17 Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer. Hum Gene Ther 1996 1.14
18 Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes. Neurology 2009 1.11
19 A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008 1.10
20 Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Genet 2000 1.05
21 Adenovirus-mediated gene transfer of the tumor suppressor, p53, induces apoptosis in postmitotic neurons. J Cell Biol 1996 1.05
22 Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. Eur J Biochem 2001 1.05
23 U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping. Cell Mol Life Sci 2003 1.04
24 Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. J Inherit Metab Dis 2002 1.03
25 Cultured human myoblasts and myotubes show markedly different transducibility by replication-defective adenovirus recombinants. Gene Ther 1994 1.03
26 Phosphoenolpyruvate carboxytransphosphorylase. II. Crystallization and properties. J Biol Chem 1966 1.02
27 Differential short-term transduction efficiency of adult versus newborn mouse tissues by adenoviral recombinants. Exp Mol Pathol 1995 1.01
28 Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscul Disord 2008 1.01
29 Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 2004 1.00
30 Ty4, a novel low-copy number element in Saccharomyces cerevisiae: one copy is located in a cluster of Ty elements and tRNA genes. Nucleic Acids Res 1989 0.98
31 Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol 2007 0.98
32 A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology 1999 0.97
33 Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature. Ultrastruct Pathol 2001 0.96
34 High-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscle of dystrophic dogs: prolongation of expression with immunosuppression. Hum Gene Ther 1998 0.96
35 [5-Year symptom-free survival time and mortality in patients with carcinoma of the corpus uteri]. Geburtshilfe Frauenheilkd 1965 0.95
36 The equilibria of reactions catalyzed by carboxytransphosphorylase, carboxykinase, and pyruvate carboxylase and the synthesis of phosphoendolpyruvate. J Biol Chem 1966 0.94
37 GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology 2007 0.94
38 Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study. Neurology 2000 0.94
39 Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. Neurology 2006 0.91
40 Cloning of novel injury-regulated genes. Implications for an important role of the muscle-specific protein skNAC in muscle repair. J Biol Chem 1999 0.91
41 Generation, validation, and large scale production of adenoviral recombinants with large size inserts such as a 6.3 kb human dystrophin cDNA. J Virol Methods 1997 0.91
42 Efficiency and functional consequences of adenovirus-mediated in vivo gene transfer to normal and dystrophic (mdx) mouse diaphragm. Am J Respir Cell Mol Biol 1995 0.90
43 Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscul Disord 2009 0.90
44 Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice. Neuromuscul Disord 1998 0.89
45 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Neurology 2011 0.88
46 Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS. J Neurol 2000 0.88
47 Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. Eur J Paediatr Neurol 2004 0.88
48 Noninvasive (13)C-octanoic acid breath test shows delayed gastric emptying in patients with amyotrophic lateral sclerosis. Digestion 2000 0.88
49 Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. Neuromuscul Disord 2006 0.88
50 Molecular analysis of the yeast Ty4 element: homology with Ty1, copia, and plant retrotransposons. Gene 1992 0.87
51 The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology 2008 0.87
52 The principles of gene therapy for the nervous system. Trends Neurosci 1996 0.87
53 De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. Neuromuscul Disord 2002 0.86
54 Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy. Neuromuscul Disord 2005 0.85
55 Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. Neurology 2006 0.85
56 The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. J Med Genet 2004 0.85
57 Radiation dose and breast cancer risk in patients treated for cancer of the cervix. Int J Cancer 1989 0.85
58 Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2). Neurology 2006 0.85
59 Toxicity of replication-defective adenoviral recombinants in dissociated cultures of nervous tissue. Exp Neurol 1996 0.84
60 MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011. Neuromuscul Disord 2013 0.83
61 Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. J Med Genet 2002 0.83
62 Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients. Neurology 2011 0.83
63 Adenovirus-mediated wild-type p53 gene transfer and overexpression induces apoptosis of human glioma cells independent of endogenous p53 status. J Neuropathol Exp Neurol 1997 0.82
64 Technology evaluation: CRIB (CNTF delivery) CytoTherapeutics Inc. Curr Opin Mol Ther 1999 0.82
65 Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis. Neuromuscul Disord 2005 0.82
66 A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B. J Med Genet 2003 0.82
67 C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. Eur J Neurol 2010 0.82
68 Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochem Biophys Res Commun 2000 0.82
69 Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. Neurology 2002 0.82
70 Deactivation and desensitization of mouse embryonic- and adult-type nicotinic receptor channel currents. Neurosci Lett 2001 0.80
71 Factor analysis of endometrial carcinoma in relation to treatment. Obstet Gynecol 1967 0.80
72 Expression of growth associated protein 43 and neural cell adhesion molecule in congenital fibre type disproportion with interstitial myositis. Virchows Arch 1994 0.80
73 No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. Eur J Neurol 2008 0.80
74 The neurotrophin receptor p75NTR is induced on mature myofibres in inflammatory myopathies and promotes myotube survival to inflammatory stress. Neuropathol Appl Neurobiol 2012 0.80
75 Phenotypic variability in siblings with calpainopathy (LGMD2A). Acta Myol 2008 0.80
76 The spread of transgene expression at the site of gene construct injection. Muscle Nerve 2001 0.80
77 A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. J Med Genet 2003 0.79
78 Efficient muscle-specific transgene expression after adenovirus-mediated gene transfer in mice using a 1.35 kb muscle creatine kinase promoter/enhancer. Gene Ther 1997 0.79
79 Third cranial nerve palsy caused by gummatous neurosyphilis: MR findings. AJNR Am J Neuroradiol 1994 0.79
80 An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. Neurology 2005 0.79
81 Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. Neuropediatrics 2004 0.79
82 Impairment of force generation after adenovirus-mediated gene transfer to muscle is alleviated by adenoviral gene inactivation and host CD8+ T cell deficiency. Hum Gene Ther 1996 0.78
83 Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. J Neurol Neurosurg Psychiatry 2010 0.78
84 A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population. Neuromuscul Disord 2002 0.78
85 Methionine homozygosity at prion gene codon 129 may predispose to sporadic inclusion-body myositis. Lancet 1999 0.78
86 Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations. Acta Myol 2005 0.78
87 [Preoperative radium insertion in the management of carcinoma of the endometrium (author's transl)]. Geburtshilfe Frauenheilkd 1982 0.77
88 Technology evaluation: edrecolomab, Centocor Inc. Curr Opin Mol Ther 2000 0.77
89 Unusual features in a boy with the rapsyn N88K mutation. Neurology 2006 0.77
90 Myopathy with trabecular muscle fibers. Neuromuscul Disord 1999 0.77
91 The immunosuppressant FK506 prolongs transgene expression in brain following adenovirus-mediated gene transfer. Neuroreport 1997 0.77
92 An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). J Neurol Neurosurg Psychiatry 2005 0.76
93 Neuromyotonia, myocloni, sensory neuropathy and cerebellar symptoms in a patient with antibodies to neuronal nucleoproteins (anti-Hu-antibodies). Clin Neurol Neurosurg 1999 0.76
94 Interferons impair early transgene expression by adenovirus-mediated gene transfer in muscle cells. J Mol Med (Berl) 1998 0.76
95 Delayed colonic transit times in amyotrophic lateral sclerosis assessed with radio-opaque markers. Eur J Med Res 1997 0.76
96 [Prevention of deep-vein thrombosis in patients with gynaecological cancer undergoing radiotherapy. A comparison of calcium heparin and a semisynthetic heparin analogue (author's transl)]. Geburtshilfe Frauenheilkd 1981 0.76
97 Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein. Clin Neuropathol 2007 0.76
98 Tenascin is a useful marker in the diagnosis of inflammatory myopathies. Eur J Med Res 1998 0.76
99 Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. J Med Genet 2004 0.76
100 Respiratory insufficiency as a presenting symptom of LGMD2D in adulthood. Acta Myol 2004 0.76
101 LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filaments. Acta Myol 2006 0.75
102 Prion codon 129 homozygosity and sporadic inclusion body myositis. Neurology 2001 0.75
103 A modified alignment of human and rodent 5' untranslated sequences of the acetylcholine receptor epsilon subunit gene reveals additional regions of high homology. Neuromuscul Disord 2000 0.75
104 Localization of transforming growth factor beta in association with neuromuscular junctions in adult human muscle. Cell Mol Neurobiol 1999 0.75
105 [Interruption of pregnancy--for and against]. Munch Med Wochenschr 1972 0.75
106 [Endogenous bilateral compression syndrome of the suprascapular nerve. Overview and case report]. Nervenarzt 1993 0.75
107 [Urodynamic follow-up investigation after radical abdominal hysterectomy and lymphadenectomy for invasive carcinoma of the uterine cervix (author's transl)]. Geburtshilfe Frauenheilkd 1980 0.75
108 Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene. Neuropediatrics 2002 0.75
109 [Drug administration for rapid delivery]. Zentralbl Gynakol 1967 0.75
110 [New insights in pathogenesis and therapy of sporadic inclusion body myositis (s-IBM)]. Nervenarzt 2001 0.75
111 Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients. Eur J Med Res 1997 0.75
112 [Amniocentesis for the obtaining of amniotic fluid for prenatal genetic studies]. Munch Med Wochenschr 1971 0.75
113 [Comparison of heterogeneous groups on the example of therapy for corpus carcinoma]. Fortschr Med 1971 0.75
114 Successful management of polyneuropathy associated with IgM gammopathy of undetermined significance with antibody-based immunoadsorption. Clin Nephrol 2000 0.75
115 ["Wurm-Hefner" versus "Shirodkar-McDonald". Surgical treatment of cervical insufficiency in pregnancy]. Geburtshilfe Frauenheilkd 1971 0.75
116 [Perinatal mortality in foreign workers (author's transl)]. Geburtshilfe Frauenheilkd 1975 0.75
117 Novel approaches to treat muscular dystrophies. Expert Opin Investig Drugs 2001 0.75
118 Five-year symptom-free survival and excess mortality in patients with endometrial carcinoma. Ger Med Mon 1965 0.75
119 [Urethrocystography as a standard method of the gynecologist for the selection and evaluation of surgical procedures for urinary-incontinence]. Munch Med Wochenschr 1968 0.75
120 [Results of urodynamic studies following Wertheim-Meigs surgery. A follow-up of the patients of I. UFK from the years 1970-1977]. Arch Gynecol 1979 0.75
121 Drug-induced systemic lupus erythematosus after 8 years of treatment with carbamazepine. Eur J Clin Pharmacol 1998 0.75
122 [Effect of muscular work on the myosonogram]. Ultraschall Med 1995 0.75
123 [Perinatal mortality in foreign workers (author's transl)]. Ther Umsch 1975 0.75
124 [Retrospective therapeutic trials in female carcinoma patients]. Methods Inf Med 1968 0.75
125 [The place of radiotherapy in the treatment of vulvar carcinoma]. Radiologe 1983 0.75
126 The scope of gene therapy in humans: scientific, safety and ethical considerations. Neuromuscul Disord 1997 0.75
127 Successful treatment of muscle sarcoidosis with thalidomide. Acta Myol 2003 0.75