Výsledky vyhledávání - "Ann Löfgren"

Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family

Autor: J Zidar, Vincent Timmerman, Dušan Butinar, Ann Löfgren, C. Van Broeckhoven, L Leonardis, Mara Popović

Publikováno v: Pflugers archives

In a Slovene Gypsy family of 19 subjects from. four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy Lom (HMSNL), were found. They had severe distal and milder proximal muscle atrophy an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fde7357c3030c7467ced21c4895585e
https://pubmed.ncbi.nlm.nih.gov/28176125

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Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse

Autor: Ann Löfgren, Ricardo E. Madrid, Jonathan Baets, Vincent Timmerman

Publikováno v: Neuromuscular disorders

We describe a patient with a longstanding history of hypertrophic neuropathy of DejerineSottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene. The patient ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68029bc385d90dcc6d3b8190b39e375b
https://doi.org/10.1016/j.nmd.2012.12.005

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Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation

Autor: P. De Jonghe, Kristl Claeys, Eva Nelis, Ann Löfgren, Vincent Timmerman, M. Sirotković-Skerlev, Nina Barišić

Publikováno v: Annals of Human Genetics. 72:416-441

Summary Charcot-Marie-Tooth disease (CMT) is the most common neuromuscular disorder. It represents a group of clinically and genetically heterogeneous inherited neuropathies. Here, we review the results of molecular genetic investigations and the cli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5fadf8003d49000ad60cf0670341b8dc
https://doi.org/10.1111/j.1469-1809.2007.00412.x

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Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

Autor: Peter Hackman, Helena Kääriäinen, Teppo Varilo, Laurence A. Bindoff, Ann Löfgren, Petri Luoma, Anu Suomalainen, Seppo Kaakkola, Gert Van Goethem, Kari Majamaa, Silja Heiskanen, Bjarne Udd, Anders Paetau, Ilse Lappalainen, Maria Rantamäki, Vesa Juvonen, Anna H. Hakonen

Publikováno v: The American journal of human genetics

Mutations in the catalytic subunit of the mitochondrial DNA polymerase g ( POLG) have been found to be an important cause of neurological disease. Recently, we and collaborators reported a new neurodegenerative disorder with autosomal recessive ataxi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec5f93a21f1f8f10bdd02f1cf23176f1
https://doi.org/10.1086/444548

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De novoSCN1Amutations are a major cause of severe myoclonic epilepsy of infancy

Autor: Christine Van Broeckhoven, Jurgen Del-Favero, Berten Ceulemans, Nicole I. Wolf, Barbara Plecko, Sirpa Ala-Mello, Paul Thiry, Salmo Raskin, Katrien Smets, L Claes, Peter De Jonghe, Lina Basel-Vanagaite, Dominique Audenaert, Ann Löfgren

Publikováno v: Human Mutation. 21:615-621

Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without a family history of a similar disorder. The earliest disease manifestations are usually fever-associated seizures. Later in li

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::473b39802ffed5caaf7e6881b23a5ba5
https://doi.org/10.1002/humu.10217

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A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths

Autor: Christine Van Broeckhoven, Sevim Erdem, Ersin Tan, Ann Löfgren, Haluk Topaloglu, Vincent Timmerman, Eva Nelis, Peter De Jonghe, Chantal Ceuterick

Publikováno v: Neuromuscular disorders

Mutations in the myotubularin-related protein 2 gene on chromosome 11q22 are known to cause autosomal recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths. We screened the coding region of the myotubularin-related protein

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728c21042f12d377d12c1736dc96e78b
https://doi.org/10.1016/s0960-8966(02)00046-9

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A novel 3′-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

Autor: C. Van Broeckhoven, J. Meuleman, J. J. Martin, A. Pou-Serradell, Chantal Ceuterick, P. De Jonghe, Vincent Timmerman, Ann Löfgren

Publikováno v: Neuromuscular disorders

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating peripheral neuropathy. Clinical hallmarks are recurrent painless focal neuropathies mostly preceded by minor trauma or compression at entrapment s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01d7dc1c59ba11b5947a94015bdc0dc0
https://doi.org/10.1016/s0960-8966(00)00214-5

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Nonfibrillar diffuse amyloid deposition due to a gamma42-secretase site mutation points to an essential role for N-truncated Abeta42 in Alzheimer's disease

Autor: Peter M. Kroisel, Christine Van Broeckhoven, Ann Löfgren, Reinhold Kleinert, Rong Wang, Eugeen Vanmechelen, Bart De Strooper, Samir Kumar-Singh, Marc Cruts, Hugo Vanderstichele, H Backhovens, Marc Mercken, Inge Vanderhoeven, Chris De Jonghe

Publikováno v: Human molecular genetics

Amyloidogenic processing of the amyloid precursor protein (APP) with deposition in brain of the 42 amino acid long amyloid beta-peptide (A beta(42)) is considered central to Alzheimer's disease (AD) pathology. However, it is generally believed that n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3774f773331dc0ed217201c9c0217e5
https://doi.org/10.1093/hmg/9.18.2589

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Screening for mutations in the peripheral myelin genesPMP22,MPZ andCx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

Autor: Vincent Timmerman, Christine Van Broeckhoven, Irina V. Mersiyanova, Eva Nelis, Alexandr Vladimirovich Polyakov, Elena L. Dadali, V P Fedotov, Oleg V. Evgrafov, Sookhrat M. Ismailov, Ann Löfgren

Publikováno v: Human Mutation. 15:340-347

Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, and hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three mye

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e423c932a0d1c7ccee6234fe8fd85bb9
https://doi.org/10.1002/(sici)1098-1004(200004)15:4<340::aid-humu6>3.0.co

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Spinocerebellar ataxia type 7 (SCA7) – correlations between phenotype and genotype in one large Belgian family

Autor: Jurgen Del-Favero, Jean-Jacques Martin, Ann Löfgren, Nicole Van Regemorter, Christine Van Broeckhoven

Publikováno v: Journal of the neurological sciences

Spinocerebellar ataxia type 7 (SCA7), in which the degenerative process also affect the retina, belongs to the category of the autosomal dominant cerebellar ataxia type II (ADCA II). We have described the neuropathology of this condition [Martin JJ,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb435cb5315366b843318145de42d8b3
https://doi.org/10.1016/s0022-510x(99)00176-8

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