Publications by authors named "Pierre-Yves Jeannet"

29Publications

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Am J Med Genet A 2015 Dec 11;167A(12):3076-81. Epub 2015 Sep 11.

Inserm, Institut Cochin, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37364DOI Listing
December 2015

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

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http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
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http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
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http://link.springer.com/10.1007/s00415-013-7154-1
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http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 2014

Effect of vagus nerve stimulation in an adult patient with Dravet syndrome: contribution to sudden unexpected death in epilepsy risk reduction?.

Eur Neurol 2013 29;69(2):119-21. Epub 2012 Nov 29.

Service de Neurologie, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1159/000345132DOI Listing
August 2013

Sleep disorders in boys with Duchenne muscular dystrophy.

Acta Paediatr 2012 Dec 8;101(12):1265-9. Epub 2012 Oct 8.

Paediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland.

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http://doi.wiley.com/10.1111/apa.12025
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http://dx.doi.org/10.1111/apa.12025DOI Listing
December 2012

[Therapeutic trials for Duchenne muscular dystrophy: between hopes and disappointments].

Rev Med Suisse 2012 Feb;8(329):409-12

Consultation des maladies neuromusculaires, Unité de neuropédiatrie et de neuroréhabilitation pédiatrique, DMCP, CHUV, 1011 Lausanne.

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February 2012

Acute ischemic stroke in children versus young adults.

Ann Neurol 2011 Aug;70(2):245-54

Department of Pediatric Neurology, University Hospital Bern and University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1002/ana.22427DOI Listing
August 2011

Gait assessment in children with duchenne muscular dystrophy during long-distance walking.

J Child Neurol 2012 Jan 15;27(1):30-8. Epub 2011 Jul 15.

École Polytechnique Fédérale de Lausanne (EPFL), Laboratory of Movement Analysis and Measurement, Lausanne, Switzerland.

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http://dx.doi.org/10.1177/0883073811413581DOI Listing
January 2012

An initial MRI picture of limbic encephalitis in subacute sclerosing panencephalitis.

Eur J Paediatr Neurol 2011 Nov 31;15(6):544-6. Epub 2011 May 31.

Unité de Neurologie et de Neurorehabilitation Pédiatrique, Département Médico-Chirurgical de Pédiatrie, CHUV, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ejpn.2011.05.001DOI Listing
November 2011

Familial aplasia of the trapezius muscle: clinical and MRI findings.

Acta Paediatr 2011 Mar 18;100(3):464-6. Epub 2010 Oct 18.

Pediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland.

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http://doi.wiley.com/10.1111/j.1651-2227.2010.02043.x
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http://dx.doi.org/10.1111/j.1651-2227.2010.02043.xDOI Listing
March 2011

Continuous monitoring and quantification of multiple parameters of daily physical activity in ambulatory Duchenne muscular dystrophy patients.

Eur J Paediatr Neurol 2011 Jan 17;15(1):40-7. Epub 2010 Aug 17.

Pediatric Neuromuscular Center, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ejpn.2010.07.002DOI Listing
January 2011

Cerebral sinus venous thrombosis in Swiss children.

Dev Med Child Neurol 2010 Dec;52(12):1145-50

Department of Neuropaediatrics, University Children's Hospital, Inselspital, Berne, Switzerland.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03722.xDOI Listing
December 2010

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.

J Inherit Metab Dis 2010 Dec 11;33 Suppl 3:S219-26. Epub 2010 May 11.

Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, CI 02-35, Av P Decker 2, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s10545-010-9098-2DOI Listing
December 2010

Recent skin injuries in children with motor disabilities.

Arch Dis Child 2010 May;95(5):387-90

Paediatric Neurology and Neurorehabilitation Unit, University Hospital Lausanne, Lausanne, Switzerland.

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http://adc.bmj.com/content/95/5/387.full.pdf
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http://adc.bmj.com/cgi/doi/10.1136/adc.2009.163691
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http://dx.doi.org/10.1136/adc.2009.163691DOI Listing
May 2010

Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes.

Cardiol Young 2010 Feb 22;20(1):18-24. Epub 2010 Jan 22.

Department of OBGYN and Divisions of Pediatric Cardiology and Neurology, University Hospital of Lausanne, Switzerland.

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http://dx.doi.org/10.1017/S1047951109992046DOI Listing
February 2010

Respiratory surveillance of patients with Duchenne and Becker muscular dystrophy.

J Pediatr Rehabil Med 2009 ;2(2):115-22

Centre Hospitalier Universitaire Vaudois, Neuropediatric Unit, Lausanne, Switzerland.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/PRM-2009-0071DOI Listing
October 2012

Orofacial dysfunction in Duchenne muscular dystrophy.

Arch Oral Biol 2009 Jan 20;54(1):26-31. Epub 2008 Sep 20.

Department of Orthodontics, University of Geneva, Switzerland.

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http://dx.doi.org/10.1016/j.archoralbio.2008.07.012DOI Listing
January 2009

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Ann Neurol 2008 Aug;64(2):177-86

Assistance Publique-Hôpitaux de Paris, Service de Pédiatrie, Hôpital Universitaire Raymond Poincaré, Centre National de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, Garches, France.

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http://dx.doi.org/10.1002/ana.21417DOI Listing
August 2008

Isolated facial and bulbar paresis: a persistent manifestation of neonatal myasthenia gravis.

Neurology 2008 Jan;70(3):237-8

Department of Pediatrics, Lausanne University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1212/01.wnl.0000278101.95510.09DOI Listing
January 2008

[The role of pathology in neuromuscular diseases].

Rev Med Suisse 2007 Jul;3(119):1733-6

Institut universitaire de pathologie, CHUV, 1011 Lausanne.

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July 2007

Transient dystonic toe-walking: differentiation from cerebral palsy and a rare explanation for some unexplained cases of idiopathic toe-walking.

Dev Med Child Neurol 2006 Feb;48(2):96-102

Neuropaediatrics Unit, Department of Paediatrics, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.

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http://dx.doi.org/10.1017/S0012162206000223DOI Listing
February 2006

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Nat Genet 2005 Nov 16;37(11):1207-9. Epub 2005 Oct 16.

INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitié-Salpêtrière, UPMC, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1038/ng1657DOI Listing
November 2005