Pierre-Yves Jeannet

Publications | Mémoires et thèses

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45 publications

2015 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2001 | 1999 | 1997 |
2015
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen C.L., Salgado D., Monges S., Foncuberta M.E., Kekou K., Kosma K., Dawkins H., Lamont L., Roy A.J., Chamova T. et al., 2015/04. Human mutation, 36 (4) pp. 395-402. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_05A0E8F0DE35]
 
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
Lebrun N., Lebon S., Jeannet P.Y., Jacquemont S., Billuart P., Bienvenu T., 2015. American Journal of Medical Genetics. Part A, 167A (12) pp. 3076-3081. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_148619F76195]
2013
 
Non-traumatic spinal cord ischaemia in childhood - clinical manifestation, neuroimaging and outcome.
Stettler S., El-Koussy M., Ritter B., Boltshauser E., Jeannet P.Y., Kolditz P., Meyer-Heim A., Steinlin M., 2013. European Journal of Paediatric Neurology, 17 (2) pp. 176-184.
[DOI][WoS][Pmid][serval:BIB_7D4844CD68BA]
2012
 
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Klein A., Lillis S., Munteanu I., Scoto M., Zhou H., Quinlivan R., Straub V., Manzur A.Y., Roper H., Jeannet P.Y. et al., 2012. Human Mutation, 33 (6) pp. 981-988.
[DOI][WoS][Pmid][serval:BIB_48D460CAC4E0]
 
Effect of Vagus Nerve Stimulation in an Adult Patient with Dravet Syndrome: Contribution to Sudden Unexpected Death in Epilepsy Risk Reduction?.
Spatola M., Jeannet P.Y., Pollo C., Wider C., Labrum R., Rossetti A.O., 2012. European Neurology, 69 (2) pp. 119-121. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AB9486AEDF3C]
 
Essais thérapeutiques dans la dystrophie musculaire de Duchenne: entre espoirs et désespoirs [Therapeutic trials for Duchenne muscular dystrophy: between hopes and disappointments].
Bloetzer C., Fluss J., Jeannet P.Y., 2012. Revue Médicale Suisse, 8 (329) pp. 409-412.
[Pmid][serval:BIB_94BE4DD1A486]
 
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson B.H., Kasher P.R., Mayer J., Szynkiewicz M., Jenkinson E.M., Bhaskar S.S., Urquhart J.E., Daly S.B., Dickerson J.E., O'Sullivan J. et al., 2012. Nature Genetics, 44 (3) pp. 338-342. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9DCDA709F4F3]
 
Sleep disorders in boys with Duchenne muscular dystrophy.
Bloetzer C., Jeannet P.Y., Lynch B., Newman C.J., 2012. Acta Paediatrica, 101 (12) pp. 1265-1269.
[DOI][WoS][Pmid][serval:BIB_030252ECA216]
2011
 
An initial MRI picture of limbic encephalitis in subacute sclerosing panencephalitis
Lebon Sébastien, Maeder Philippe, Maeder-Ingvar Malin, Poloni Claudia, Mayor-Dubois Claire, Roulet-Perez Eliane, Jeannet Pierre-Yves, 2011/11. European Journal of Paediatric Neurology, 15 (6) pp. 544-546.
[DOI][WoS][Pmid][serval:BIB_A0C7DA42C4AD]
 
Acute ischemic stroke in children versus young adults.
Bigi S., Fischer U., Wehrli E., Mattle H.P., Boltshauser E., Bürki S., Jeannet P.Y., Fluss J., Weber P., Nedeltchev K. et al., 2011. Annals of Neurology, 70 (2) pp. 245-254.
[DOI][WoS][Pmid][serval:BIB_7FF7D0AE076E]
 
An initial MRI picture of limbic encephalitis in subacute sclerosing panencephalitis.
Lebon S., Maeder P., Maeder-Ingvar M., Poloni C., Mayor-Dubois C., Roulet-Perez E., Jeannet P.Y., 2011. European Journal of Paediatric Neurology, 15 (6) pp. 544-546.
[DOI][WoS][Pmid][serval:BIB_65C72A63DE56]
 
Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Klein A., Lillis S., Oprea I., Scoto M., Robb S., Manzur A., Straub V., Roper H., Jeannet P.Y., Kingston H. et al., 2011. p. 694 dans 16th International Congress of the World Muscle Society, Neuromuscular Disorders.
[DOI][WoS][serval:BIB_1950D120A040]
 
Continuous monitoring and quantification of multiple parameters of daily physical activity in ambulatory Duchenne muscular dystrophy patients.
Jeannet P.Y., Aminian K., Bloetzer C., Najafi B., Paraschiv-Ionescu A., 2011. European Journal of Paediatric Neurology, 15 (1) pp. 40-47.
[DOI][WoS][Pmid][serval:BIB_E074895AF57E]
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.
Treves S., Vukcevic M., Jeannet P.Y., Levano S., Girard T., Urwyler A., Fischer D., Voit T., Jungbluth H., Lillis S. et al., 2011. Human Molecular Genetics, 20 (3) pp. 589-600.
[URN][DOI][WoS][Pmid][serval:BIB_AF80EAD1E0C4]
 
Familial aplasia of the trapezius muscle: clinical and MRI findings.
Newman C.J., Jacquemont S., Theumann N., Jeannet P.Y., 2011. Acta Paediatrica, 100 (3) pp. 464-466.
[DOI][WoS][Pmid][serval:BIB_1BECC178C955]
2010
 
Recent skin injuries in children with motor disabilities.
Newman C.J., Holenweg-Gross C., Vuillerot C., Jeannet P.Y., Roulet-Perez E., 2010/05. Archives of disease in childhood, 95 (5) pp. 387-390. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_E29E5935B52A]
Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes.
Degueldre S.C., Chockalingam P., Mivelaz Y., Di Bernardo S., Pfammatter J.P., Barrea C., Sekarski N., Jeannet P.Y., Fouron J.C., Vial Y. et al., 2010. Cardiology In the Young, 20 (1) pp. 18-24.
[URN][DOI][WoS][Pmid][serval:BIB_B3B7160AA3EF]
Early onset collagen VI myopathies: Genetic and clinical correlations.
Briñas L., Richard P., Quijano-Roy S., Gartioux C., Ledeuil C., Lacène E., Makri S., Ferreiro A., Maugenre S., Topaloglu H. et al., 2010. Annals of Neurology, 68 (4) pp. 511-520. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_8CF325435E1C]
 
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
Krahn M., Goicoechea M., Hanisch F., Groen E., Bartoli M., Pécheux C., Garcia-Bragado F., Leturcq F., Jeannet P.Y., Lobrinus J.A. et al., 2010. Clinical Genetics, 80 (4) pp. 398-402.
[DOI][WoS][Pmid][serval:BIB_643E05B90510]
Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.
Ballhausen D., Guerry F., Hahn D., Schaller A., Nuoffer J.M., Bonafé L., Jeannet P.Y., Jacquemont S., 2010. Journal of Inherited Metabolic Disease, 33 Suppl 3 (Suppl 3) pp. S219-S226.
[URN][DOI][WoS][Pmid][serval:BIB_1B93A7D53BDC]
2009
 
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.
Dunand M., Lobrinus J.A., Jeannet P.Y., Behin A., Claeys K.G., Selcen D., Kuntzer T., 2009/11. Neuromuscular disorders : NMD, 19 (11) p. 802. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_0F81AEFE8A90]
 
Cerebellar cleft: confirmation of the neuroimaging pattern.
Poretti A., Huisman T.A., Cowan F.M., Del Giudice E., Jeannet P.Y., Prayer D., Rutherford M.A., du Plessis A.J., Limperopoulos C., Boltshauser E., 2009. Neuropediatrics, 40 (5) pp. 228-233.
[DOI][WoS][Pmid][serval:BIB_846A893A1FB5]
 
Orofacial dysfunction in Duchenne muscular dystrophy.
Botteron S., Verdebout C.M., Jeannet P.Y., Kiliaridis S., 2009. Archives of Oral Biology, 54 (1) pp. 26-31.
[DOI][WoS][Pmid][serval:BIB_7C1350B4748E]
 
Pédiatrie 2008. [Pediatrics]
Fanconi S., Giannoni E., Roth-Kleiner M., Pittet I., Suris J.C., Spehrs-Ciaffi V., Jeannet P.Y., Hafen G.M., 2009. Revue Médicale Suisse, 5 (185) pp. 53-58.
[Pmid][serval:BIB_E3A8BA26966D]
 
Respiratory surveillance of patients with Duchenne and Becker muscular dystrophy.
Spehrs-Ciaffi V., Fitting J.W., Cotting J., Jeannet P.Y., 2009. Journal of Pediatric Rehabilitation Medicine, 2 (2) pp. 115-122.
[DOI][Pmid][serval:BIB_5C20BDBDD61F]
2008
Pédiatrie [Pediatrics]
Fanconi S., Reinberg O., Gapany C., Meyrat B.J., Frey P., Vaudaux B., Di Bernardo S., Boulos T., Sekarski N., Spehrs-Ciaffi V. et al., 2008/01/09. Revue medicale suisse, 4 (139) pp. 61-66. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_1BF5C4D6BEA7]
 
Comprehensive considerations for prenatal counseling in presence of fetal cardiac rhabdomyomas Comprehensive considerations for prenatal counseling in presence of fetal cardiac rhabdomyoma
Chockalingam P., Delguedre S., Mivelaz Y., Di Bernardo S., Pfammatter J.P., Barrea C., Sekarski N., Jeannet P.Y., Fouron J.C., Vial Y. et al., 2008. p. 70 dans 43rd Annual AEPC Meeting 18th Spring Meeting of ECHSA, Cardiology in the Young.
[serval:BIB_F770BE78F03E]
 
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Quijano-Roy S., Mbieleu B., Bönnemann C.G., Jeannet P.Y., Colomer J., Clarke N.F., Cuisset J.M., Roper H., De Meirleir L., D'Amico A. et al., 2008. Annals of Neurology, 64 (2) pp. 177-186. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A95FD804D115]
 
Isolated facial and bulbar paresis: a persistent manifestation of neonatal myasthenia gravis.
Jeannet P.Y., Marcoz J.P., Kuntzer T., Roulet-Perez E., 2008/01. Neurology, 70 (3) pp. 237-238. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C85B37774829]
 
Lethal dilated cardiomyopathy in a girl with SCAD deficiency
Ballhausen D., Sekarski N., Jeannet P.Y., Boulat O., Gregersen N., Bonafe L., 2008. pp. S35 dans Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
[DOI][WoS][serval:BIB_FA635F771245]
 
Retinopathy, progressive intracerebral calcification and epilepsy in a premature new-born: case report of a new entity
Gygax M.J., De Ribeaupierre S., Wolfensberger T.J., Bonafe L., Maeder P., Roulet-Perez E., Jeannet P.Y., 2008. pp. 45S dans Annual Joint Meeting of the Swiss Societies for Paediatrics, Child and Adolescent Psychiatry, Paediatric Surgery, Swiss Medical Weekly. Peer-reviewed.
[WoS][serval:BIB_8B9AA5A2DDDF]
2007
 
Le role du pathologiste dans la prise en charge des maladies neuromusculaires. [The role of pathology in neuromuscular diseases]
Lobrinus J. A., Jeannet P. Y., Kohler A., Dunand M., Kuntzer T., 2007/07. Revue Médicale Suisse, 3 (119) pp. 1733-6. Peer-reviewed.
[Pmid][serval:BIB_FF7CB58CE053]
 
Atypical presentation of Prader-Willi syndrome with cerebral venous thrombosis: association or fortuity?
Beretta L., Hauschild M., Jeannet P.Y., Addor M.C., Maeder P., Truttmann A.C., 2007. Neuropediatrics, 38 (4) pp. 204-206. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_033C89A8B682]
 
Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci
Jeannet P. Y., Mittaz L., Dunand M., Lobrinus J. A., Bonafe L., Kuntzer T., 2007/01. Neuromuscular Disorders, 17 (1) pp. 6-12. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_53C448963634]
 
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders.
Michel P., Sternberg D., Jeannet P.Y., Dunand M., Thonney F., Kress W., Fontaine B., Fournier E., Kuntzer T., 2007. Muscle & Nerve, 36 (5) pp. 643-650. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_23B852DAD45C]
 
Early onset severe myopathy due to the A3302G mutation in the mitochondrial tRNA LEU(UUR).
Hahn D., Schaller A., Gallati S., Ballhausen D., Jacquemont S., Jeannet P.Y., Bonafé L., Nuoffer J.M., 2007. p. 72 dans 44th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Journal of Inherited Metabolic Disease. Peer-reviewed.
[WoS][serval:BIB_FA71A3AF0784]
2006
 
Transient dystonic toe-walking: differentiation from cerebral palsy and a rare explanation for some unexplained cases of idiopathic toe-walking
Newman C. J., Ziegler A. L., Jeannet P. Y., Roulet-Perez E., Deonna T. W., 2006/02. Developmental Medicine and Child Neurology, 48 (2) pp. 96-102.
[DOI][WoS][Pmid][serval:BIB_4BDB160BC350]
2005
 
Mutations in dynamin 2 cause dominant centronuclear myopathy
Bitoun M., Maugenre S., Jeannet P. Y., Lacene E., Ferrer X., Laforet P., Martin J. J., Laporte J., Lochmuller H., Beggs A. H. et al., 2005/11. Nature Genetics, 37 (11) pp. 1207-9.
[DOI][WoS][Pmid][serval:BIB_ADC611C8775A]
The role of posterior fossa decompression in acute cerebellitis.
de Ribaupierre S., Meagher-Villemure K., Villemure J.G., Cotting J., Jeannet P.Y., Porchet F., Roulet E., Bloch J., 2005/11. Child's Nervous System, 21 (11) pp. 970-974. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A9D5F55F4233]
 
Hirayama disease associated with a severe rhythmic movement disorder involving neck flexions
Jeannet P. Y., Kuntzer T., Deonna T., Roulet-Perez E., 2005/04. Neurology, 64 (8) pp. 1478-9. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_AC5BF5A607E5]
 
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
Lobrinus J. A., Schorderet D. F., Payot M., Jeanrenaud X., Bottani A., Superti-Furga A., Schlaepfer J., Fromer M., Jeannet P. Y., 2005/04. Neuromuscular Disorders, 15 (4) pp. 293-8.
[DOI][WoS][Pmid][serval:BIB_07972D894995]
2004
 
Clinical and histologic findings in autosomal centronuclear myopathy
Jeannet P. Y., Bassez G., Eymard B., Laforet P., Urtizberea J. A., Rouche A., Guicheney P., Fardeau M., Romero N. B., 2004/05. Neurology, 62 (9) pp. 1484-90.
[WoS][Pmid][serval:BIB_D2FFD5BAE4B4]
2001
 
Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy
Jeannet P. Y., Watts G. D., Bird T. D., Chance P. F., 2001/12. Neurology, 57 (11) pp. 1963-8.
[WoS][Pmid][serval:BIB_1BE072477AAF]
1999
 
Home and hospital treatment of acute seizures in children with nasal midazolam.
Jeannet P.Y., Roulet E., Maeder-Ingvar M., Gehri M., Jutzi A., Deonna T., 1999. European Journal of Paediatric Neurology, 3 (2) pp. 73-77. Peer-reviewed.
[DOI][Pmid][serval:BIB_72F21B03652F]
1997
 
Local variability in respiratory syncytial virus disease severity
Brandenburg A. H., Jeannet P. Y., Steensel-Moll H. A., Ott A., Rothbarth P. H., Wunderli W., Suter S., Neijens H. J., Osterhaus A. D., Siegrist C. A., 1997/11. Archives of Disease in Childhood, 77 (5) pp. 410-4.
[DOI][WoS][Pmid][serval:BIB_0496813594FB]
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