Zobrazeno 1 - 10
of 213
pro vyhledávání: '"Peter G. Barth"'
Publikováno v:
European Medical Journal Neurology, Vol 7, Iss 1, Pp 52-61 (2019)
Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of congenital neurodegenerative diseases. Patients are afflicted by severe motor and mental impairments and most patients die at a young age. The hallmark of PCH is hypoplasia of the c
Externí odkaz:
https://doaj.org/article/0c2cb737bf41468487003526291f55f8
Autor:
Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers, Alan L. Shields
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting la
Externí odkaz:
https://doaj.org/article/b8086c2c7af8476fbc352a104b80e760
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)
Abstract Background Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of su
Externí odkaz:
https://doaj.org/article/3bc9fa9447a34a439da244b6d643e061
Autor:
Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, Jeffrey A. Towbin, Juliet M. Taylor, Paul G. Ekert, David R. Thorburn, Arnold Munnich, Ronald J.A. Wanders, Peter G. Barth, Frédéric M. Vaz
Publikováno v:
Journal of Lipid Research, Vol 46, Iss 6, Pp 1182-1195 (2005)
Barth syndrome (BTHS) is an X-linked recessive disorder that is biochemically characterized by low cellular levels of the mitochondrial phospholipid cardiolipin (CL). Previously, we discovered that the yeast disruptant of the TAZ ortholog in Saccharo
Externí odkaz:
https://doaj.org/article/c824b2a692ff4f359af39127a00e106a
Publikováno v:
Neuropediatrics, 52(3), 163-169. Hippokrates Verlag GmbH
Neuropediatrics. GEORG THIEME VERLAG KG
Neuropediatrics
Neuropediatrics. GEORG THIEME VERLAG KG
Neuropediatrics
Background Pontocerebellar hypoplasia (PCH) is a rare group of disorders mainly affecting the cerebellum and pons. Supratentorial structures are variably involved. We assessed brain growth patterns in patients with the most frequent forms of PCH, nam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00ad134526ba535d50d4271ec147d911
https://pure.amc.nl/en/publications/postnatal-brain-growth-patterns-in-pontocerebellar-hypoplasia(a1369eef-ebe7-40f4-91e5-63b4d0478b7e).html
https://pure.amc.nl/en/publications/postnatal-brain-growth-patterns-in-pontocerebellar-hypoplasia(a1369eef-ebe7-40f4-91e5-63b4d0478b7e).html
Publikováno v:
EMJ Neurology. :52-61
Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of congenital neurodegenerative diseases. Patients are afflicted by severe motor and mental impairments and most patients die at a young age. The hallmark of PCH is hypoplasia of the c
Autor:
Eleonora Aronica, Eugen Boltshauser, Frank Baas, S. Fox, Marian A. J. Weterman, Peter G. Barth, Kees Fluiter, Andrea Poretti, Douglas C. Miller, Brian Harding, Mariarita Santi
Publikováno v:
Neuropathology and Applied Neurobiology
Neuropathology and Applied Neurobiology, 43(4), 358-365
Neuropathology and applied neurobiology, 43(4), 358-365. Wiley-Blackwell
Neuropathology and Applied Neurobiology, 43(4), 358-365
Neuropathology and applied neurobiology, 43(4), 358-365. Wiley-Blackwell
Congenital brainstem disconnection (CBSD) is an enigmatic embryo-fetal defect presenting as (sub)total absence of a segment between mesencephalon and lower brainstem. Rostro-caudal limits of the defect vary while the basal pons is always involved and
Autor:
Bart Appelhof, Bwee Tien Poll-The, Peter G. Barth, Tessa van Dijk, Liesbeth Reneman, Frank Baas
Publikováno v:
American Journal of Medical Genetics Part A, 173(1), 207-212
American journal of medical genetics. Part A, 173A(1), 207-212. Wiley-Liss Inc.
American journal of medical genetics. Part A, 173A(1), 207-212. Wiley-Liss Inc.
We report a de novo missense mutation (c.7649T>A) in the inositol, 1,4,5 triphosphate receptor type 1 (ITPR1) gene in a patient with severe pontocerebellar hypoplasia. The mutation results in an amino acid substitution of a highly conserved isoleucin
Autor:
Johannes H. T. M. Koelman, Bwee Tien Poll-The, Ronald J.A. Wanders, Hans R. Waterham, Kevin Berendse, Peter G. Barth, Marc Engelen, Sacha Ferdinandusse, Charles B. L. M. Majoie, Frédéric M. Vaz
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, 39(1), 93-106. Springer Netherlands
Journal of inherited metabolic disease, 39(1), 93-106. Springer Netherlands
Introduction We describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood. Methods Retrospective cohort study in patients with a genetically confirmed ZSD. Results All patients (n = 19; aged 16–35 ye
Publikováno v:
Orphanet Journal of Rare Diseases, 13
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)
Background Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with variable involvement of supratentor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4ed416c1d8366b345121b70ef8c34e0
https://hdl.handle.net/1887/79025
https://hdl.handle.net/1887/79025