Search details
1.
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Cell
; 137(2): 235-46, 2009 Apr 17.
Article
in English
| MEDLINE | ID: mdl-19379691
2.
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Acta Neuropathol
; 125(3): 439-57, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23315026
3.
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
Brain
; 135(Pt 1): 23-34, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22189565
4.
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.
Nat Med
; 10(4): 396-401, 2004 Apr.
Article
in English
| MEDLINE | ID: mdl-15034573
5.
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
Muscle Nerve
; 41(2): 269-71, 2010 Feb.
Article
in English
| MEDLINE | ID: mdl-19813197
6.
Lethal injection of potassium chloride: first description of the pathological appearance of organs.
J Appl Toxicol
; 30(4): 378-80, 2010 May.
Article
in English
| MEDLINE | ID: mdl-19924677
7.
[Potassium channelopathies and Morvan's syndromes]. / Les canalopathies potassiques, autour du syndrome de Morvan.
Bull Acad Natl Med
; 194(2): 391-406; discussion 406-7, 2010 Feb.
Article
in French
| MEDLINE | ID: mdl-21166127
8.
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Hum Mutat
; 30(2): E345-75, 2009 Feb.
Article
in English
| MEDLINE | ID: mdl-18853459
9.
Rapid diagnosis of human prion disease using streptomycin with tonsil and brain tissues.
Lab Invest
; 89(4): 406-13, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19188908
10.
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
Neuromuscul Disord
; 19(2): 163-6, 2009 Feb.
Article
in English
| MEDLINE | ID: mdl-19138847
11.
Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy.
J Neuropathol Exp Neurol
; 67(4): 319-25, 2008 Apr.
Article
in English
| MEDLINE | ID: mdl-18379436
12.
[Limbic encephalitis--evolving concepts]. / L'encéphalite limbique--evolution des concepts.
Bull Acad Natl Med
; 192(8): 1531-41; discussion 1541-2, 2008 Nov.
Article
in French
| MEDLINE | ID: mdl-19445370
13.
Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.
Neuromuscul Disord
; 17(3): 235-41, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17324573
14.
Further heterogeneity in myopathy with tubular aggregates?
Muscle Nerve
; 46(6): 984-5, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23225398
15.
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
Hum Mutat
; 27(10): 1063, 2006 Oct.
Article
in English
| MEDLINE | ID: mdl-16941492
16.
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Eur J Hum Genet
; 14(8): 917-22, 2006 Aug.
Article
in English
| MEDLINE | ID: mdl-16639411
17.
Metabosensitive afferent fiber responses after peripheral nerve injury and transplantation of an acellular muscle graft in association with schwann cells.
J Neurotrauma
; 23(12): 1883-94, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-17184196
18.
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.
Arch Neurol
; 61(1): 106-13, 2004 Jan.
Article
in English
| MEDLINE | ID: mdl-14732627
19.
Intracranial meningeal melanocytoma associated with ipsilateral nevus of Ota. Case report.
J Neurosurg
; 96(3): 619-23, 2002 Mar.
Article
in English
| MEDLINE | ID: mdl-11883852
20.
Combination of histopathological and electromyographic patterns can help to evaluate functional outcome of critical ill patients with neuromuscular weakness syndromes.
Crit Care
; 8(6): R358-66, 2004 Dec.
Article
in English
| MEDLINE | ID: mdl-15566579