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Krenn,\ M.*\ ; Wagner,\ M.\ ; Trimmel,\ K.*\ ; Bonelli,\ S.*\ ; Rath,\ J.*\ ; Jud,\ J.*\ ; Schwarz,\ M.*\ ; Milenkovic,\ I.*\ ; Weng,\ R.*\ ; Koren,\ J.*\ ; Baumgartner,\ C.*\ ; Brugger,\ M.*\ ; Brunet,\ T.*\ ; Graf,\ E.*\ ; Winkelmann,\ J.\ ; Aull-Watschinger,\ S.*\ ; Zimprich,\ F.*\ ; Pataraia,\ E.*
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Holistic exome-based genetic testing in adults with epilepsy.
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Neurol. Genet. 11:e200260 (2025)
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Hildebrand,\ M.S.*\ ; Braden,\ R.O.*\ ; Lauretta,\ M.L.*\ ; Kaspi,\ A.*\ ; Leventer,\ R.J.*\ ; Anderson,\ M.C.*\ ; Goel,\ H.*\ ; Bahlo,\ M.*\ ; Scheffer,\ I.E.*\ ; Amor,\ D.J.*\ ; Janowski,\ R.\ ; Niessing,\ D.\ ; Morgan,\ A.T.*
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Inherited \PURA\ pathogenic variant associated with a mild neurodevelopmental disorder.
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Neurol. Genet. 10:e200181 (2024)
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Indelicato,\ E.*\ ; Pfeilstetter,\ J.*\ ; Zech,\ M.\ ; Unterberger,\ I.*\ ; Wanschitz,\ J.*\ ; Berweck,\ S.*\ ; Boesch,\ S.*
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New-onset refractory status epilepticus due to a novel MT-TF variant: Time for acute genetic testing before treatment?
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Neurol. Genet. 9:e200063 (2023)
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Neuhofer,\ C.M.*\ ; Catarino,\ C.B.*\ ; Schmidt,\ H.*\ ; Seelos,\ K.*\ ; Alhaddad,\ B.\ ; Haack,\ T.B.\ ; Klopstock,\ T.*
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LINS1-associated neurodevelopmental disorder family with novel mutation expands the phenotypic spectrum.
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Neurol. Genet. 6:e500 (2020)
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Radelfahr,\ F.*\ ; Riedhammer,\ K.M.*\ ; Keidel,\ L.F.*\ ; Gramer,\ G.*\ ; Meitinger,\ T.\ ; Klopstock,\ T.*\ ; Wagner,\ M.
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Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
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Neurol. Genet. 6:e525 (2020)
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Stendel,\ C.*\ ; Neuhofer,\ C.*\ ; Floride,\ E.*\ ; Yuqing,\ S.*\ ; Ganetzky,\ R.D.*\ ; Park,\ J.*\ ; Freisinger,\ P.*\ ; Kornblum,\ C.*\ ; Kleinle,\ S.*\ ; Schöls,\ L.*\ ; Distelmaier,\ F.*\ ; Stettner,\ G.M.*\ ; Büchner,\ B.*\ ; Falk,\ M.J.*\ ; Mayr,\ J.A.*\ ; Synofzik,\ M.*\ ; Abicht,\ A.*\ ; Haack,\ T.B.*\ ; Prokisch,\ H.\ ; Wortmann,\ S.B.\ ; Murayama,\ K.*\ ; Fang,\ F.*\ ; Klopstock,\ T.*
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Delineating MT-ATP6-associated disease.
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Neurol. Genet. 6:e393 (2020)
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Johannesen,\ K.*\ ; Mitter,\ D.*\ ; Janowski,\ R.\ ; Roth,\ C.*\ ; Toulouse,\ J.*\ ; Poulat,\ A.*\ ; Ville,\ D.M.*\ ; Chatron,\ N.*\ ; Brilstra,\ E.*\ ; Geleijns,\ K.*\ ; Born,\ A.P.*\ ; McLean,\ S.*\ ; Nugent,\ K.*\ ; Baynam,\ G.*\ ; Poulton,\ C.*\ ; Dreyer,\ L.*\ ; Gration,\ D.*\ ; Schulz,\ S.*\ ; Dieckmann,\ A.*\ ; Helbig,\ K.L.*\ ; Merkenschlager,\ A.*\ ; Jamra,\ R.*\ ; Finck,\ A.*\ ; Gardella,\ E.*\ ; Hjalgrim,\ H.*\ ; Mirzaa,\ G.*\ ; Brancati,\ F.*\ ; Bierhals,\ T.*\ ; Denecke,\ J.*\ ; Hempel,\ M.*\ ; Lemke,\ J.R.*\ ; Rubboli,\ G.*\ ; Muschke,\ P.*\ ; Guerrini,\ R.*\ ; Vetro,\ A.*\ ; Niessing,\ D.\ ; Lesca,\ G.*\ ; Moller,\ R.S.*
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Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
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Neurol. Genet. 5:e373 (2019)
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Krenn,\ M.*\ ; Milenkovic,\ I.*\ ; Eckstein,\ G.\ ; Zimprich,\ F.*\ ; Meitinger,\ T.\ ; Foki,\ T.*\ ; Wagner,\ M.
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Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.
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Neurol. Genet. 5:e346 (2019)
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Pulit,\ S.L.*\ ; Weng,\ L.C.*\ ; McArdle,\ P.F.*\ ; Trinquart,\ L.*\ ; Choi,\ S.H.*\ ; Mitchell,\ B.D.*\ ; Rosand,\ J.*\ ; de Bakker,\ P.I.W.*\ ; Benjamin,\ E.J.*\ ; Ellinor,\ P.T.*\ ; Kittner,\ S.J.*\ ; Lubitz,\ S.A.*\ ; Anderson,\ C.D.*\ ; AFGen Consortium (Roselli,\ C. ; Müller-Nurasyid,\ M. ; Perz,\ S. ; Waldenberger,\ M. ; Lichtner,\ P. ; Peters,\ A. ; Kriebel,\ J.)
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Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes.
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Neurol. Genet. 4:e293 (2018)
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Reinthaler,\ E.M.*\ ; Graf,\ E.\ ; Zrzavy,\ T.*\ ; Wieland,\ T.\ ; Hotzy,\ C.*\ ; Kopecky,\ C.*\ ; Pferschy,\ S.*\ ; Schmied,\ C.*\ ; Leutmezer,\ F.*\ ; Keilani,\ M.*\ ; Lill,\ C.M.*\ ; Hoffjan,\ S.*\ ; Epplen,\ J.T.*\ ; Zettl,\ U.K.*\ ; Hecker,\ M.*\ ; Deutschländer,\ A.*\ ; Meuth,\ S.G.*\ ; Ahram,\ M.*\ ; Mustafa,\ B.*\ ; El-Khateeb,\ M.*\ ; Vilariño-Güell,\ C.*\ ; Sadovnick,\ A.D.*\ ; Zimprich,\ F.*\ ; Tomkinson,\ B.*\ ; Strom,\ T.M.\ ; Kristoferitsch,\ W.*\ ; Lassmann,\ H.*\ ; Zimprich,\ A.*
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TPP2 mutation associated with sterile brain inflammation mimicking MS.
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Neurol. Genet. 4:e285 (2018)
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Lesage,\ S.*\ ; Bras,\ J.*\ ; Cormier-Dequaire,\ F.*\ ; Condroyer,\ C.*\ ; Nicolas,\ A.*\ ; Darwent,\ L.*\ ; Guerreiro,\ R.*\ ; Majounie,\ E.*\ ; Federoff,\ M.*\ ; Heutink,\ P.*\ ; Wood,\ N.W.*\ ; Gasser,\ T.*\ ; Hardy,\ J.*\ ; Tison,\ F.*\ ; Singleton,\ A.*\ ; Brice,\ A.*\ ; International Parkinson\'s Disease Genomics Consortium (IPDGC) (Illig,\ T. ; Lichtner,\ P.)
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Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.
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Neurol. Genet. 1:e9 (2015)
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