Publications by authors named "Sylvie Forlani"

51Publications

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.

Neurobiol Aging 2020 07 21;91:167.e1-167.e9. Epub 2020 Feb 21.

Sorbonne Université, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de Référence des Démences Rares ou Précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Institut du Cerveau et de la Moelle épinière (ICM), FrontLab, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2020.02.014DOI Listing
July 2020

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2019 22;9. Epub 2019 Nov 22.

INSERM, U 1127, CNRS UMR 7225, Faculté de Médecine de Sorbonne Université, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FR.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7916/tohm.v0.693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878848PMC
September 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.

Neurobiol Aging 2020 01 10;85:154.e9-154.e11. Epub 2019 Jun 10.

Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2019.06.002DOI Listing
January 2020

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.

Neurobiol Aging 2019 02 19;74:234.e1-234.e8. Epub 2018 Sep 19.

Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière ICM, Hôpital Pitié-Salpêtrière, Paris, France; National Reference Center for Rare or Early Dementias, Institute of Memory and Alzheimer's Disease IM2A, Department of Neurology, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01974580183033
Publisher Site
http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.010DOI Listing
February 2019

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Neurobiol Aging 2018 12 30;72:187.e11-187.e14. Epub 2018 Jun 30.

Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.037DOI Listing
December 2018

Survival and severity in dominant cerebellar ataxias.

Ann Clin Transl Neurol 2015 Feb 7;2(2):202-7. Epub 2015 Jan 7.

AP-HP, Genetic Department, Pitié-Salpêtrière University Hospital F-75013, Paris, France ; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06 UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital F-75013, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338960PMC
February 2015

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.

Mov Disord 2015 Feb 27;30(2):262-6. Epub 2014 Dec 27.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, Queen Square, London, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318767PMC
http://dx.doi.org/10.1002/mds.26059DOI Listing
February 2015

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Brain 2014 Sep 26;137(Pt 9):2444-55. Epub 2014 Jun 26.

4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France27 Ecole Pratique des Hautes Etudes, heSam Université, laboratoire de neurogénétique, ICM, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awu174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132646PMC
September 2014

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.

Am J Med Genet B Neuropsychiatr Genet 2007 Oct;144B(7):854-61

INSERM U679, Pierre and Marie Curie Paris 6 University, Pitié-Salpêtrière Hospital, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30518DOI Listing
October 2007

Glypicans are differentially expressed during patterning and neurogenesis of early mouse brain.

Biochem Biophys Res Commun 2007 Jan 10;352(1):55-60. Epub 2006 Nov 10.

IBDML-CNRS UMR 6216, INSERM UMR623, Campus de Luminy, Case 907, 13288 Marseille Cedex 09, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2006.10.185DOI Listing
January 2007

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Brain 2006 Jun 24;129(Pt 6):1456-62. Epub 2006 Jan 24.

INSERM U679, Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awl012DOI Listing
June 2006

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

Ann Neurol 2005 Nov;58(5):720-9

Institut National de la Sante et de la Recherche Médicale U679 (formerly U289) and Institut Fédératif de Recherche en Neurosciences, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.20628DOI Listing
November 2005

CpG content affects gene silencing in mice: evidence from novel transgenes.

Genome Biol 2003 14;4(9):R53. Epub 2003 Aug 14.

Unité de Biologie moléculaire du Développement, Institut Pasteur, rue du Dr Roux, 75724 Paris Cédex 15, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2003-4-9-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC193653PMC
December 2003

Acquisition of Hox codes during gastrulation and axial elongation in the mouse embryo.

Development 2003 Aug;130(16):3807-19

Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1242/dev.00573DOI Listing
August 2003

Hox cluster polarity in early transcriptional availability: a high order regulatory level of clustered Hox genes in the mouse.

Mech Dev 2002 Nov;119(1):81-90

Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0925-4773(02)00329-5DOI Listing
November 2002

Cdx1 and Cdx2 have overlapping functions in anteroposterior patterning and posterior axis elongation.

Development 2002 May;129(9):2181-93

Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
May 2002