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A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.

Forouhideh Y, Müller K, Ruf W, Assi M, Seker T, Tunca C, Knehr A, Strom TM, Gorges M, Schradt F, Meitinger T, Ludolph AC, Pinkhardt EH, Basak AN, Kassubek J, Uttner I, Weishaupt JH.

Brain. 2019 Jan 12. doi: 10.1093/brain/awy343. [Epub ahead of print] No abstract available.


Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice.

Brenner D, Sieverding K, Bruno C, Lüningschrör P, Buck E, Mungwa S, Fischer L, Brockmann SJ, Ulmer J, Bliederhäuser C, Philibert CE, Satoh T, Akira S, Boillée S, Mayer B, Sendtner M, Ludolph AC, Danzer KM, Lobsiger CS, Freischmidt A, Weishaupt JH.

J Exp Med. 2019 Jan 11. pii: jem.20180729. doi: 10.1084/jem.20180729. [Epub ahead of print]


Neurofilaments and tau in CSF in an infant with SMA type 1 treated with nusinersen.

Winter B, Guenther R, Ludolph AC, Hermann A, Otto M, Wurster CD.

J Neurol Neurosurg Psychiatry. 2019 Jan 10. pii: jnnp-2018-320033. doi: 10.1136/jnnp-2018-320033. [Epub ahead of print] No abstract available.


[Treatment evaluation in patients with 5q-associated spinal muscular atrophy : Real-world experience].

Walter MC, Dräger B, Günther R, Hermann A, Hagenacker T, Kleinschnitz C, Löscher W, Meyer T, Schrank B, Schwersenz I, Wurster CD, Ludolph AC, Kirschner J.

Nervenarzt. 2019 Jan 7. doi: 10.1007/s00115-018-0653-7. [Epub ahead of print] Review. German.


Glial Fibrillary Acidic Protein in Serum Is Increased in Alzheimer's Disease and Correlates with Cognitive Impairment.

Oeckl P, Halbgebauer S, Anderl Straub S, Steinacker P, Huss AM, Neugebauer H, von Arnim CAF, Diehl Schmid J, Grimmer T, Kornhuber J, Lewczuk P, Danek A, Ludolph AC, Otto M.

J Alzheimers Dis. 2018 Dec 24. doi: 10.3233/JAD-180325. [Epub ahead of print]


Moral judgment in patients with behavioral variant of frontotemporal dementia and amyotrophic lateral sclerosis: no impairment of the moral position, but rather its execution.

Semler E, Petersdorff L, Anderl-Straub S, Böhm S, Lulé D, Fangerau H, Ludolph AC, Otto M, Uttner I.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Dec 4:1-7. doi: 10.1080/21678421.2018.1534972. [Epub ahead of print]


Cognitive and behavioral impairments in German and Chinese ALS populations - a post-hoc comparison of national study data.

Ye S, Rosenbohm A, Böhm S, Uttner I, Ji Y, Ludolph AC, Lulé D, Fan D.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Nov 26:1-9. doi: 10.1080/21678421.2018.1542535. [Epub ahead of print]


Endothelial damage, vascular bagging and remodeling of the microvascular bed in human microangiopathy with deep white matter lesions.

Forsberg KME, Zhang Y, Reiners J, Ander M, Niedermayer A, Fang L, Neugebauer H, Kassubek J, Katona I, Weis J, Ludolph AC, Del Tredici K, Braak H, Yilmazer-Hanke D.

Acta Neuropathol Commun. 2018 Nov 23;6(1):128. doi: 10.1186/s40478-018-0632-z.


Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients.

Wurster CD, Winter B, Wollinsky K, Ludolph AC, Uzelac Z, Witzel S, Schocke M, Schneider R, Kocak T.

J Neurol. 2018 Nov 20. doi: 10.1007/s00415-018-9124-0. [Epub ahead of print]


Amyloid precursor protein-fragments-containing inclusions in cardiomyocytes with basophilic degeneration and its association with cerebral amyloid angiopathy and myocardial fibrosis.

Krämer LM, Brettschneider J, Lennerz JK, Walcher D, Fang L, Rosenbohm A, Balakrishnan K, Benckendorff J, Möller P, Just S, Willem M, Ludolph AC, Thal DR.

Sci Rep. 2018 Nov 9;8(1):16594. doi: 10.1038/s41598-018-34808-7.


Non-invasive ventilation and hypercapnia-associated symptoms in amyotrophic lateral sclerosis.

Dorst J, Behrendt G, Ludolph AC.

Acta Neurol Scand. 2019 Feb;139(2):128-134. doi: 10.1111/ane.13043. Epub 2018 Nov 19.


Cortico-efferent tract involvement in primary lateral sclerosis and amyotrophic lateral sclerosis: A two-centre tract of interest-based DTI analysis.

Müller HP, Agosta F, Gorges M, Kassubek R, Spinelli EG, Riva N, Ludolph AC, Filippi M, Kassubek J.

Neuroimage Clin. 2018;20:1062-1069. doi: 10.1016/j.nicl.2018.10.005. Epub 2018 Oct 9.


Analysis of CACNA1A CAG repeat lengths in patients with familial ALS.

Brenner D, Müller K, Gastl R, Gorges M, Otto M, Pinkhardt EH, Kassubek J, Weishaupt JH, Ludolph AC.

Neurobiol Aging. 2019 Feb;74:235.e5-235.e8. doi: 10.1016/j.neurobiolaging.2018.09.019. Epub 2018 Sep 22.


Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.

Tazelaar GHP, Dekker AM, van Vugt JJFA, van der Spek RA, Westeneng HJ, Kool LJBG, Kenna KP, van Rheenen W, Pulit SL, McLaughlin RL, Sproviero W, Iacoangeli A, Hübers A, Brenner D, Morrison KE, Shaw PJ, Shaw CE, Panadés MP, Mora Pardina JS, Glass JD, Hardiman O, Al-Chalabi A, van Damme P, Robberecht W, Landers JE, Ludolph AC, Weishaupt JH, van den Berg LH, Veldink JH, van Es MA; Project MinE ALS Sequencing Consortium.

Neurobiol Aging. 2019 Feb;74:234.e9-234.e15. doi: 10.1016/j.neurobiolaging.2018.09.012. Epub 2018 Sep 22.


Corticoefferent pathology distribution in amyotrophic lateral sclerosis: in vivo evidence from a meta-analysis of diffusion tensor imaging data.

Gorges M, Del Tredici K, Dreyhaupt J, Braak H, Ludolph AC, Müller HP, Kassubek J.

Sci Rep. 2018 Oct 18;8(1):15389. doi: 10.1038/s41598-018-33830-z.


Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis.

Verde F, Steinacker P, Weishaupt JH, Kassubek J, Oeckl P, Halbgebauer S, Tumani H, von Arnim CAF, Dorst J, Feneberg E, Mayer B, Müller HP, Gorges M, Rosenbohm A, Volk AE, Silani V, Ludolph AC, Otto M.

J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):157-164. doi: 10.1136/jnnp-2018-318704. Epub 2018 Oct 11.


Short-term and long-term effects of immunoadsorption in refractory chronic inflammatory demyelinating polyneuropathy: a prospective study in 17 patients.

Dorst J, Ludolph AC, Senel M, Tumani H.

J Neurol. 2018 Dec;265(12):2906-2915. doi: 10.1007/s00415-018-9082-6. Epub 2018 Oct 6.


Story of the ALS-FTD continuum retold: rather two distinct entities.

Lulé DE, Aho-Özhan HEA, Vázquez C, Weiland U, Weishaupt JH, Otto M, Anderl-Straub S, Semler E, Uttner I, Ludolph AC.

J Neurol Neurosurg Psychiatry. 2018 Sep 26. pii: jnnp-2018-318800. doi: 10.1136/jnnp-2018-318800. [Epub ahead of print]


Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase.

Oeckl P, Weydt P, Steinacker P, Anderl-Straub S, Nordin F, Volk AE, Diehl-Schmid J, Andersen PM, Kornhuber J, Danek A, Fassbender K, Fliessbach K; German Consortium for Frontotemporal Lobar Degeneration, Jahn H, Lauer M, Müller K, Knehr A, Prudlo J, Schneider A, Thal DR, Yilmazer-Hanke D, Weishaupt JH, Ludolph AC, Otto M.

J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):4-10. doi: 10.1136/jnnp-2018-318868. Epub 2018 Sep 17.


Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.

Volk AE, Weishaupt JH, Andersen PM, Ludolph AC, Kubisch C.

Med Genet. 2018;30(2):252-258. doi: 10.1007/s11825-018-0185-3. Epub 2018 Jul 13. Review.

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