Stéphanie Christen-zäch

Publications | Mémoires et thèses

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68 publications

Sous presse | 2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2003 | 2002 | 2001 | 2000 |
Sous presse
 
Line-field confocal optical coherence tomography and the diagnosis of cutaneous mastocytoma and juvenile xanthogranuloma.
Del Río-Sancho S., Christen-Zaech S. International journal of dermatology. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_BC374FAE2737]
 
Comparing Line-Field Confocal Optical Coherence Tomography and Reflectance Confocal Microscopy on the In Vivo Healing Process of Lesions Induced by Fractional Photothermolysis.
Del Río-Sancho S., Christen-Zaech S., Alvarez Martinez D., Pünchera J., Merat R., Laubach H.J. Lasers in surgery and medicine. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_FD32C0EF49B8]
2024
Italian S3-Guideline on the treatment of Atopic Eczema - First Update, adapted from EuroGuiDerm by the Italian Society of Dermatology and STD (SIDEMAST), the Italian Association of Hospital Dermatologists (ADOI) and the Italian Society of Allergological and Occupational Dermatology (SIDAPA).
Argenziano G., Cusano F., Corazza M., Amato S., Amerio P., Naldi L., Patruno C., Pigatto P.D., Quaglino P., Gisondi P. et al., 2024/06. Italian journal of dermatology and venereology, 159 (3) pp. 279-284. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_77ADA693A54C]
Italian S3-Guideline on the treatment of Atopic Eczema - Part 1: Systemic therapy, adapted from EuroGuiDerm by the Italian Society of Dermatology and STD (SIDEMAST), the Italian Association of Hospital Dermatologists (ADOI) and the Italian Society of Allergological and Environmental Dermatology (SIDAPA).
Argenziano G., Cusano F., Corazza M., Amato S., Amerio P., Naldi L., Patruno C., Pigatto P.D., Quaglino P., Gisondi P. et al., 2024/06. Italian journal of dermatology and venereology, 159 (3) pp. 223-250. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_616FCBA6BC3F]
Italian S3-Guideline on the treatment of Atopic Eczema - Part 2: non-systemic treatments and treatment recommendations for special AE patient populations, adapted from EuroGuiDerm by the Italian Society of Dermatology and STD (SIDEMAST), the Italian Association of Hospital Dermatologists (ADOI) and the Italian Society of Allergological and Occupational Dermatology (SIDAPA).
Argenziano G., Cusano F., Corazza M., Amato S., Amerio P., Naldi L., Patruno C., Pigatto P.D., Quaglino P., Gisondi P. et al., 2024/06. Italian journal of dermatology and venereology, 159 (3) pp. 251-278. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_05C83EFC979A]
2023
 
First update of the living European guideline (EuroGuiDerm) on atopic eczema.
Wollenberg A., Kinberger M., Arents B., Aszodi N., Barbarot S., Bieber T., Brough H.A., Pinton P.C., Christen-Zaech S., Deleuran M. et al., 2023/11. Journal of the European Academy of Dermatology and Venereology, 37 (11) pp. e1283-e1287. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_DE7C33D57C8F]
 
Non-invasive imaging of agminated Spitz nevi with line-field confocal optical coherence tomography.
Del Río-Sancho S., Gallay C., Ventéjou S., Christen-Zaech S., 2023/05. Journal of the European Academy of Dermatology and Venereology, 37 (5) pp. e658-e659. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_1A18D77249B6]
2022
European guideline (EuroGuiDerm) on atopic eczema - part II: non-systemic treatments and treatment recommendations for special AE patient populations.
Wollenberg A., Kinberger M., Arents B., Aszodi N., Avila Valle G., Barbarot S., Bieber T., Brough H.A., Calzavara Pinton P., Christen-Zäch S. et al., 2022/11. Journal of the European Academy of Dermatology and Venereology, 36 (11) pp. 1904-1926. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5CE55F845CF2]
 
Noninvasive in vivo characterization of laser-induced microscopic treatment zones: A new standard procedure.
Del Río-Sancho S., Martinez D.A., Merat R., Christen-Zaech S., Laubach H., 2022/11. Lasers in surgery and medicine, 54 (9) pp. 1183-1185. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0D8514835059]
European guideline (EuroGuiDerm) on atopic eczema: part I - systemic therapy.
Wollenberg A., Kinberger M., Arents B., Aszodi N., Avila Valle G., Barbarot S., Bieber T., Brough H.A., Calzavara Pinton P., Christen-Zäch S. et al., 2022/09. Journal of the European Academy of Dermatology and Venereology, 36 (9) pp. 1409-1431. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E37300840AC5]
 
An atypical presentation of borrelial lymphocytoma in 4 children.
Ventéjou S., Bourban-Jirounek C., Christen-Zaech S., Morren M.A., 2022/03. Annales de dermatologie et de venereologie, 149 (1) pp. 61-63. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D35713D3A331]
2021
 
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.
Theiler M., Weibel L., Christen-Zaech S., Carmignac V., Sorlin A., Neuhaus K., Chevarin M., Thauvin-Robinet C., Philippe C., Faivre L. et al., 2021/10. Journal of the European Academy of Dermatology and Venereology, 35 (10) pp. 2085-2090. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_366FC0D987F5]
 
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah I., Quinodoz M., Campos-Xavier B., Peter V.G., Fouriki A., Bonvin C., Bottani A., Kumps C., Angelini F., Bellutti Enders F. et al., 2021/06. Clinical genetics, 99 (6) pp. 780-788. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_ED69F497CA09]
 
Risk of severe allergic reactions to COVID-19 vaccines among patients with allergic skin diseases - practical recommendations. A position statement of ETFAD with external experts.
Ring J., Worm M., Wollenberg A., Thyssen J.P., Jakob T., Klimek L., Bangert C., Barbarot S., Bieber T., de Bruin-Weller M.S. et al., 2021/06. Journal of the European Academy of Dermatology and Venereology, 35 (6) pp. e362-e365. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A3E713D81992]
 
European Task Force on Atopic Dermatitis: position on vaccination of adult patients with atopic dermatitis against COVID-19 (SARS-CoV-2) being treated with systemic medication and biologics.
Thyssen J.P., Vestergaard C., Barbarot S., de Bruin-Weller M.S., Bieber T., Taieb A., Seneschal J., Cork M.J., Paul C., Flohr C. et al., 2021/05. Journal of the European Academy of Dermatology and Venereology, 35 (5) pp. e308-e311. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_89F413CA6F8C]
La peau vue par différentes méthodes d’imagerie cutanée non invasive [Cutaneous visualization by different non-invasive skin imaging methods]
Gallay C., Ventéjou S., Gaide O., Christen-Zaech S., 2021/03/31. Revue medicale suisse, 17 (732) pp. 624-629. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_E7E795AB66BA]
 
Eccrine naevus: Case report with dermoscopic findings.
Ventéjou S., Hohl D., Bogiatzi S., Christen-Zaech S., Morren M.A., 2021/03. Annales de dermatologie et de venereologie, 148 (1) pp. 66-68. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_30CA1D2BE819]
Case Report: Pansclerotic Morphea-Clinical Features, Differential Diagnoses and Modern Treatment Concepts.
Ventéjou S., Schwieger-Briel A., Nicolai R., Christen-Zaech S., Schnider C., Hofer M., Bogiatzi S., Hohl D., De Benedetti F., Morren M.A., 2021. Frontiers in immunology, 12 p. 656407. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_F62DE0476303]
 
Distal-type epitheloid sarcoma mimicking a wart in a child: A diagnosis not to be missed.
George K., Morren M.A., Christen T., Letovanec I., Christen-Zaech S., 2021/01. Pediatric dermatology, 38 (1) pp. 187-190. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D6933828ECA1]
2020
 
ETFAD/EADV Eczema task force 2020 position paper on diagnosis and treatment of atopic dermatitis in adults and children.
Wollenberg A., Christen-Zäch S., Taieb A., Paul C., Thyssen J.P., de Bruin-Weller M., Vestergaard C., Seneschal J., Werfel T., Cork M.J. et al., 2020/12. Journal of the European Academy of Dermatology and Venereology, 34 (12) pp. 2717-2744. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_9048A14B7E3B]
 
European Task Force on Atopic Dermatitis (ETFAD): treatment targets and treatable traits in atopic dermatitis.
Thyssen J.P., Vestergaard C., Deleuran M., de Bruin-Weller M.S., Bieber T., Taieb A., Seneschal J., Cork M.J., Paul C., Flohr C. et al., 2020/12. Journal of the European Academy of Dermatology and Venereology, 34 (12) pp. e839-e842. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_27C399B5FF28]
 
Outbreak of Trichophyton soudanense causing tinea capitis in an orphanage in Myanmar.
Norrenberg S., Monod M., Christen-Zaech S., 2020/12. Journal de mycologie medicale, 30 (4) p. 101013. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_5E2A8CF39DA2]
 
Genetic predisposition and environmental factors associated with the development of atopic dermatitis in infancy: a prospective birth cohort study.
Gallay C., Meylan P., Mermoud S., Johannsen A., Lang C., Rivolta C., Christen-Zaech S., 2020/09. European journal of pediatrics, 179 (9) pp. 1367-1377. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4A4AC997797C]
Bilateral Alopecia in a Six-year-old Boy: A Quiz.
Ventéjou S., Morren M.A., George K., Vernez M., Hohl D., Christen-Zäch S., 2020/04/06. Acta dermato-venereologica, 100 (8) pp. adv00104. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E81069F30E8D]
2019
 
European task force on atopic dermatitis position paper: treatment of parental atopic dermatitis during preconception, pregnancy and lactation period.
Vestergaard C., Wollenberg A., Barbarot S., Christen-Zaech S., Deleuran M., Spuls P., Flohr C., Trzeciak M., von Kobyletzki L., Seneschal J. et al., 2019/09. Journal of the European Academy of Dermatology and Venereology, 33 (9) pp. 1644-1659. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C2F45FADA937]
 
Reply to a correspondence addressing the European guideline for treatment of atopic eczema, functional textiles and the CLOTHES trial.
Wollenberg A., Schmid-Grendelmeier P., Christen-Zäch S., Ring J., 2019/04. Journal of the European Academy of Dermatology and Venereology, 33 (4) pp. e153-e154. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_3E7BF0CCA9C4]
Télémédecine en dermatologie pédiatrique : mise au point sur les pratiques actuelles [Telemedicine in pediatric dermatology:focus on current practices]
Ventéjou S., Lévy J.L., Morren M.A., Christen-Zaech S., 2019/03/27. Revue medicale suisse, 15 (644) pp. 674-677. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_0E485180C845]
 
Bakterielle und virale Hautinfektionen im Kindesalter
Morren A-M, Ventéjou S, Asner S, Christen-Zäch S, 2019. Paediatrica sept pp. 30-33. Peer-reviewed.
[serval:BIB_DE4A2889D43C]
 
Dermatite atopique (Version 2)
Christen-Zäch S, Donghi D, Simon D, 2019..
[serval:BIB_C32F782119C1]
 
Télédermatologie en pédiatrie
Christen-Zäch S, Ventéjou S, Lévy J-L, 2019. dans La télédermatologie en pratique libérale , Sauramps Medical (Montpellier).
[serval:BIB_A05E44DC71DE]
2018
 
Consensus-based European guidelines for treatment of atopic eczema (atopic dermatitis) in adults and children: part II.
Wollenberg A., Barbarot S., Bieber T., Christen-Zaech S., Deleuran M., Fink-Wagner A., Gieler U., Girolomoni G., Lau S., Muraro A. et al., 2018/06. Journal of the European Academy of Dermatology and Venereology, 32 (6) pp. 850-878. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8AFB4F82172E]
 
Consensus-based European guidelines for treatment of atopic eczema (atopic dermatitis) in adults and children: part I.
Wollenberg A., Barbarot S., Bieber T., Christen-Zaech S., Deleuran M., Fink-Wagner A., Gieler U., Girolomoni G., Lau S., Muraro A. et al., 2018/05. Journal of the European Academy of Dermatology and Venereology, 32 (5) pp. 657-682. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_0B5A7203D2BE]
 
Altérations unguéales de l’enfant [Nail alterations in children]
Kaparos N., Norrenberg S., Al-Dhafiri M., Christen-Zaech S., 2018/03/28. Revue medicale suisse, 14 (600) pp. 676-682. Peer-reviewed.
[Pmid][serval:BIB_63779F1FD256]
 
Quoi de neuf dans la prise en charge de la dermatite atopique de l’enfant et de l’adolescent ? [What's new in the management of atopic dermatitis in children and adolescents ?]
Czernielewski J., Comte Krieger É., Christen-Zaech S., 2018/03/28. Revue medicale suisse, 14 (600) pp. 692-697. Peer-reviewed.
[Pmid][serval:BIB_25BB5D9C88F7]
2017
 
Maladies vasculaires rares, mise en place d’un centre multidisciplinaire spécialisé au CHUV [Rare vascular diseases, building dedicated multidisciplinary specialized center]
Krieger C., Baud D., Bouchardy J., Christen-Zaech S., De Buys A., Deglise S., El Ezzi O., Fresa M., Hofer M., Hohl D. et al., 2017/12/06. Revue medicale suisse, 13 (586) pp. 2109-2115. Peer-reviewed.
[Pmid][serval:BIB_87537126CDFD]
 
Skin Colonization by Staphylococcus aureus Precedes the Clinical Diagnosis of Atopic Dermatitis in Infancy.
Meylan P., Lang C., Mermoud S., Johannsen A., Norrenberg S., Hohl D., Vial Y., Prod'hom G., Greub G., Kypriotou M. et al., 2017/12. The Journal of investigative dermatology, 137 (12) pp. 2497-2504. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_42E090DFCA70]
 
Atopisches Ekzem – neue Therapien - Dermatite atopique: nouvelles thérapies émergeantes.
Czernielewski J, Christen-Zäch S, 2017. Derm Hel , 29 (10) pp. 22-25.
[serval:BIB_35BECD6B332B]
2016
 
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.
Fellmann F., Angelini F., Wassenberg J., Perreau M., Arenas Ramirez N., Simon G., Boyman O., Demaria O., Christen-Zaech S., Hohl D. et al., 2016. Journal of Allergy and Clinical Immunology, 137 (4) pp. 1189-96.e1-2. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D933D1DD0E0F]
 
Schweizer Richtlinien zur Propranolol-Therapie infantiler Hamangiome
Smith A, Theiler M, Klima Lange D, Hauser V, Angst R, Seeger M, Esslinger P, Cholewag D, Bronnimann E, Christen-Zäch S et al., 2016. Paediatrica, 27 (2) pp. 11-16.
[serval:BIB_B63075B1A7D5]
2015
 
Dermatite Atopique (version 1)
Christen-Zäch S, Donghi D, Simon D, 2015..
[serval:BIB_4F4076556682]
2014
 
Chemical depilatories in ancient Rome: the torpedo formula.
Karamanou M., Christen-Zäch S., 2014. Jama Dermatology, 150 (11) p. 1196. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_54F97A1F16C3]
 
Les traitements laser en dermatologie pédiatrique [Laser treatments in pediatric dermatology].
Lévy J.L., Almebayadh M., Christen-Zaech S., 2014. Revue Médicale Suisse, 10 (424) pp. 760, 762-760, 765.
[Pmid][serval:BIB_6BD2E613C7F8]
 
Managment of atopic dermatitis
Takeuchi Y, Christen-Zäch S, 2014. dans Vade-Mecum de Pédiatrie, Baby Guide.
[serval:BIB_70AAB4700C98]
2013
 
Dermatite atopique de l'enfant: principes généraux de la prise en charge [Atopic dermatitis in children: general principles of management].
Takeuchi Y.L., Christen-Zaech S., 2013. Revue Médicale Suisse, 9 (380) pp. 712, 714-712, 717.
[Pmid][serval:BIB_B76F5BF56432]
2011
 
So Schwinden Warzen bei Kindern
Lang C, Christen-Zäch S, 2011. Der Allgemeinarzt, 8 pp. 34-37.
[serval:BIB_AB37CFB111E8]
 
Warzenbehandlung bei Kindern
Lang C, Christen-Zäch S, 2011. Ars Medici 8 pp. 324-329.
[serval:BIB_72BAB8A14A96]
 
Was hilft gegen Warzen bei Kindern?
Lang C, Christen-Zäch S, 2011. Pädiatrie 1 pp. 4-7.
[serval:BIB_AE3F670F49B9]
2010
Des taches blanches sur la peau [White skin marks]
Vernez M., Christen-Zaech S., 2010. Revue Médicale Suisse, 6 (254) pp. 1308-1309. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_09174DE4AC0D]
 
Pathogenèse de la dermatite atopique [Pathogenesis of atopic dermatitis]
Lang C., Kypriotou M., Christen-Zaech S., 2010. Revue Médicale Suisse, 6 (246) pp. 860-865.
[Pmid][serval:BIB_A3FFD4E7F15C]
2009
 
Histoplasma capsulatum var. duboisii infection in a patient with AIDS: rapid diagnosis using polymerase chain reaction-sequencing.
Pellaton C., Cavassini M., Jaton-Ogay K., Carron P.N., Christen-Zaech S., Calandra T., Bille J., Hauser P.M., 2009. Diagnostic Microbiology and Infectious Disease, 64 (1) pp. 85-89.
[DOI][WoS][Pmid][serval:BIB_78EA1DBCF74D]
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.
Christen-Zaech S., Imoto K., Khan S.G., Oh K.S., Tamura D., Digiovanna J.J., Boyle J., Patronas N.J., Schiffmann R., Kraemer K.H. et al., 2009. Archives of Dermatology, 145 (11) pp. 1285-1291. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_508241C079E4]
2008
 
Pediatric morphea (localized scleroderma): review of 136 patients.
Christen-Zaech S., Hakim M.D., Afsar F.S., Paller A.S., 2008. Journal of the American Academy of Dermatology, 59 (3) pp. 385-396. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A0E0FB787319]
 
Persistent association of nailfold capillaroscopy changes and skin involvement over thirty-six months with duration of untreated disease in patients with juvenile dermatomyositis.
Christen-Zaech S., Seshadri R., Sundberg J., Paller A.S., Pachman L.M., 2008. Arthritis and Rheumatism, 58 (2) pp. 571-576. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CBB1DF1F2285]
 
Recurrent cutaneous Geomyces pannorum infection in three brothers with ichthyosis.
Christen-Zaech S., Patel S., Mancini A.J., 2008. Journal of the American Academy of Dermatology, 58 (5 Suppl 1) pp. S112-113. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_A1181297FD56]
 
Syndromes néoplasiques héréditaires avec atteinte cutanée [Cutaneous lesions in genetic tumor syndromes]
Christen-Zaech S., Vernez M., 2008. Revue Médicale Suisse, 4 (155) pp. 1095-1102.
[Pmid][serval:BIB_81BB9AA8E5CD]
2007
 
SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda
Favre B., Plantard L., Aeschbach L., Brakch N., Christen-Zaech S., de Viragh P. A., Sergeant A., Huber M., Hohl D., 2007/02. Journal of Investigative Dermatology, 127 (2) pp. 301-8.
[DOI][WoS][Pmid][serval:BIB_09F8B3BFCBB3]
 
An 11-year-old girl with knuckle plaques. Knuckle pads.
Christen-Zaech S., Chamlin S.L., 2007. Pediatric Annals, 36 (8) pp. 459-460. Peer-reviewed.
[WoS][Pmid][serval:BIB_8E92809F08A8]
 
An 8-year-old girl with hair loss. Trichotillomania.
Christen-Zaech S., Chamlin S.L., 2007. Pediatric Annals, 36 (5) pp. 258-259. Peer-reviewed.
[WoS][Pmid][serval:BIB_F27898EA120C]
 
Infliximab for the treatment of disseminated pyoderma gangrenosum associated with ulcerative colitis. Case report and literature review
Juillerat P., Christen-Zach S., Troillet F. X., Gallot-Lavallee S., Pannizzon R. G., Michetti P., 2007. Dermatology, 215 (3) pp. 245-51.
[DOI][WoS][Pmid][serval:BIB_BD02DE37717F]
2006
 
Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data
Christen-Zach S., Huber M., Struk B., Lindpaintner K., Munier F., Panizzon R. G., Hohl D., 2006/07. British Journal of Dermatology, 155 (1) pp. 89-93.
[DOI][WoS][Pmid][serval:BIB_663079B1A178]
 
Trigeminal trophic syndrome: a pediatric case.
Tee R.G., Sharma V., Christen-Zach S., Horii K.A., Mancini A.J., 2006. Archives of Dermatology, 142 (7) pp. 941-942. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_F0519BED1715]
2005
 
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6
Miksch S., Lumsden A., Guenther U. P., Foernzler D., Christen-Zach S., Daugherty C., Ramesar R. K., Lebwohl M., Hohl D., Neldner K. H. et al., 2005/09. Human Mutation, 26 (3) pp. 235-48.
[DOI][WoS][Pmid][serval:BIB_8EE1465A1476]
2003
 
Early olfactory involvement in Alzheimer's disease.
Christen-Zaech S., Kraftsik R., Pillevuit O., Kiraly M., Martins R., Khalili K., Miklossy J., 2003/02. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 30 (1) pp. 20-25. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D0EECC47CEA0]
2002
 
Postanoxic generalized dystonia improved by bilateral Voa thalamic deep brain stimulation
Ghika J., Villemure J. G., Miklossy J., Temperli P., Pralong E., Christen-Zaech S., Pollo C., Maeder P., Bogousslavsky J., Vingerhoets F., 2002/01. Neurology, 58 (2) pp. 311-3. Peer-reviewed.
[WoS][Pmid][serval:BIB_8CBDEDCFD769]
2001
 
A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum
Cai L., Lumsden A., Guenther U. P., Neldner S. A., Zach S., Knoblauch H., Ramesar R., Hohl D., Callen D. F., Neldner K. H. et al., 2001/09. Journal of Molecular Medicine, 79 (9) pp. 536-46.
[DOI][WoS][Pmid][serval:BIB_23A38F8BA384]
 
A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene.
de Freitas G.R., Miklossy J., Christen-Zäch S., Reichhart M., Bogousslavsky J., 2001. Journal of the Neurological Sciences, 193 (1) pp. 43-47.
[WoS][Pmid][serval:BIB_21098]
2000
 
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
Cai L., Struk B., Adams M. D., Ji W., Haaf T., Kang H. L., Dho S. H., Xu X., Ringpfeil F., Nancarrow J. et al., 2000. Journal of Molecular Medicine, 78 (1) pp. 36-46.
[DOI][WoS][Pmid][serval:BIB_A7462AFF0444]
 
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
Struk B., Cai L., Zach S., Ji W., Chung J., Lumsden A., Stumm M., Huber M., Schaen L., Kim C. A. et al., 2000. Journal of Molecular Medicine, 78 (5) pp. 282-6.
[DOI][WoS][Pmid][serval:BIB_85B1952165E6]
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