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1 . Academic Journal
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice
저자
by
De Wachter, Matthias
;
Schoonjans, An-Sofie
;
Weckhuysen, Sarah
;
Van Schil, Kristof
;
Löfgren, Ann
, et al.
소스
In
European Journal of Paediatric Neurology
January 2024 48:46-60
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7 . Academic Journal
A family with X-linked dominant Charcot–Marie–Tooth caused by a connexin32 mutation
저자
by
Verhelst, Helene E
;
Lofgren, Ann
;
Van Coster, Rudy N
.
소스
In
European Journal of Paediatric Neurology
September 2000 4(5):235-238
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5 . Academic Journal
Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse
저자
by
Madrid, Ricardo E.
;
Lofgren, Ann
;
Baets, Jonathan
;
Timmerman, Vincent
.
소스
In
Neuromuscular Disorders
April 2013 23(4):345-348
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6 . Academic Journal
Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy.
저자
by
Scalais, Emmanuel
;
Francois, Baudouin
;
Schlesser, Patrick
;
Stevens, Rene
;
Nuttin, Christian
, et al.
소스
European Journal of Paediatric Neurology; Sep2012, Vol. 16 Issue 5, p542-548, 7p
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7 . Academic Journal
A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes
저자
by
Kurt, Bulent
;
Jaeken, Jaak
;
Van Hove, Johan
;
Lagae, Lieven
;
Löfgren, Ann
, et al.
소스
Archives of Neurology
. Feb 01, 2010 67(2):239-244
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Scopus
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7 . Academic Journal
Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy.
저자
by
Ivanova, Neviana
;
Claeys, Kristl G.
;
Deconinck, Tine
;
Litvinenko, Ivan
;
Jordanova, Albena
, et al.
소스
Archives of Neurology; May2007, Vol. 64, p706-713, 8p
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7 . Academic Journal
Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin.
저자
by
Hakonen, Anna H.
;
Heiskanen, Slija
;
Juvonen, Vesa
;
Lappalainen, Ilse
;
Luoma, Petri T.
, et al.
소스
American Journal of Human Genetics
. Sep2005, Vol. 77 Issue 3, p430-441. 12p.
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7 . Academic Journal
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths
저자
by
Nelis, Eva
;
Erdem, Sevim
;
Tan, Ersin
;
Löfgren, Ann
;
Ceuterick, Chantal
, et al.
소스
Neuromuscular Disorders
. Nov2002, Vol. 12 Issue 9, p869. 5p.
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7 . Academic Journal
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 ( GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
저자
by
Mersiyanova, Irina V.
;
Ismailov, Sookhrat M.
;
Polyakov, Alexandr V.
;
Dadali, Elena L.
;
Fedotov, Valeriy P.
, et al.
소스
Human Mutation; Apr2000, Vol. 15 Issue 4, p340-347, 8p
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7 . Academic Journal
A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized by a Mild Phenotype.
저자
by
De Jonghe, Peter
;
Timmerman, Vincent
;
Nelis, Eva
;
De Vriendt, Els
;
Löfgren, Ann
, et al.
소스
Archives of Neurology; Oct99, Vol. 56 Issue 10, p1283, 6p
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