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Journal of Neurology, ISSN 0340-5354, 12/2014, Volume 261, Issue 12, pp. 2411 - 2423
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 09/2018, Volume 392, pp. 1 - 2
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.jns.2018.06.016 
Oliver McFarlane syndrome | PNPLA6 mutation | Polyneuropathy | Chorioretinal dystrophy | Cerebellar ataxia | Multiple pituitary deficits | BOUCHER-NEUHAUSER | SPECTRUM | NEUROSCIENCES | CLINICAL NEUROLOGY | Neurosciences | Genetic aspects | Medical genetics
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2014, Volume 99, Issue 10, pp. E2067 - E2075
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2019, Volume 40, Issue 3, pp. 267 - 275
Purpose: To confirm the pathogenic role of a novel mutation in PNPLA6 and detail the phenotype of a patient presenting with choroideremia-like chorioretinal... 
OCT | choroidal dystrophy | PNPLA6 | ataxia | choroideremia | Boucher-Neuhäuser | PROTEIN | DEGENERATION | FAMILY | SPINOCEREBELLAR ATAXIA | NEUROPATHY TARGET ESTERASE | CEREBELLAR-ATAXIA | GENETICS & HEREDITY | Boucher-Neuhauser | CHORIORETINAL DYSTROPHY | OPHTHALMOLOGY | HYPOGONADOTROPIC HYPOGONADISM | RETINITIS-PIGMENTOSA | NTE
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1232 - 1237
Animal studies have demonstrated the critical roles of the patatin-like protein family plays in cellular growth, lipid homeostasis, and second messenger... 
METABOLISM | IPLAGAMMA | GENETICS & HEREDITY | MUTATIONS | ATAXIA | BOUCHER-NEUHAUSER SYNDROME
Journal Article
Korean Journal of Ophthalmology, ISSN 1011-8942, 2008, Volume 22, Issue 4, pp. 263 - 267
To report a case of Boucher-Neuhauser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal... 
Boucher-Neuhauser syndrome | Chorioretinal dystrophy
Journal Article
Current Opinion in Neurology, ISSN 1350-7540, 08/2015, Volume 28, Issue 4, pp. 413 - 422
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/1997, Volume 34, Issue 9, pp. 767 - 771
Journal Article
Journal Article
ANNALES D ENDOCRINOLOGIE, ISSN 0003-4266, 12/2005, Volume 66, Issue 6, pp. 545 - 551
Journal Article
Annales d'Endocrinologie, ISSN 0003-4266, 2005, Volume 66, Issue 6, pp. 545 - 551
Cet article rapporte le cas d’un homme présentant une ataxie cérébelleuse d’évolution progressive depuis l’enfance associée à un hypogonadisme hypogonadotrope... 
syndrome de Richards-Rundle | Hypogonadotropic hypogonadism | cerebellar ataxia | syndrome de Boucher-Neuhauser | Hypogonadisme hypogonadotrope | Holmes ataxia | ataxie de Holmes | Boucher-Neuhauser syndrome | ataxie cérébelleuse | Richards-Rundle syndrome
Journal Article
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