Pierre-Yves Jeannet
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Explore the profile of Pierre-Yves Jeannet including associated specialties, affiliations and a list of published articles.
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29
Citations
1156
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Recent Articles
1.
Lebrun N, Lebon S, Jeannet P, Jacquemont S, Billuart P, Bienvenu T
Am J Med Genet A
. 2015 Sep;
167A(12):3076-81.
PMID: 26358754
We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy, who was found to carry a de novo novel splice site mutation in SMC1A....
2.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
Bladen C, Salgado D, Monges S, Foncuberta M, Kekou K, Kosma K, et al.
Hum Mutat
. 2015 Jan;
36(4):395-402.
PMID: 25604253
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical...
3.
Bladen C, Thompson R, Jackson J, Garland C, Wegel C, Ambrosini A, et al.
J Neurol
. 2013 Oct;
261(1):152-63.
PMID: 24162038
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival...
4.
Spatola M, Jeannet P, Pollo C, Wider C, Labrum R, Rossetti A
Eur Neurol
. 2012 Dec;
69(2):119-21.
PMID: 23207687
We report on a patient who developed, from 5 months of age, multiple seizure types, including myoclonic, associated with severe psychomotor delay, leading to the diagnosis of Dravet syndrome. Over...
5.
Bloetzer C, Jeannet P, Lynch B, Newman C
Acta Paediatr
. 2012 Sep;
101(12):1265-9.
PMID: 23013479
Aim: Determine the frequency and predictors of sleep disorders in boys with Duchenne Muscular Dystrophy (DMD). Method: Cross-sectional study by postal questionnaire. Sleep disturbances were assessed using the Sleep Disturbance...
6.
Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, et al.
Hum Mutat
. 2012 Apr;
33(6):981-8.
PMID: 22473935
Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance. Histopathological findings frequently feature central cores or multi-minicores, more rarely, type...
7.
Bloetzer C, Fluss J, Jeannet P
Rev Med Suisse
. 2012 Mar;
8(329):409-12.
PMID: 22432241
Duchenne muscular dystrophy is an X-linked progressive muscle disease. Since the discovery of the dystrophin gene responsible for the condition, various therapeutic strategies have been elaborated. In this paper we...
8.
Anderson B, Kasher P, Mayer J, Szynkiewicz M, Jenkinson E, Bhaskar S, et al.
Nat Genet
. 2012 Jan;
44(3):338-42.
PMID: 22267198
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere...
9.
Bigi S, Fischer U, Wehrli E, Mattle H, Boltshauser E, Burki S, et al.
Ann Neurol
. 2011 Aug;
70(2):245-54.
PMID: 21823153
Objective: The aim of this study was to compare children and young adults with acute ischemic stroke (AIS) in 2 large registries. Methods: We compared clinical characteristics, stroke etiology, workup,...
10.
Spehrs-Ciaffi V, Fitting J, Cotting J, Jeannet P
J Pediatr Rehabil Med
. 2011 Jul;
2(2):115-22.
PMID: 21791803
Duchenne muscular dystrophy is is the most common form of the childhood muscular dystrophies. It follows a predictable clinical course marked by progressive skeletal muscle weakness, lost of ambulation before...