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Items: 1 to 50 of 90

1.

A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.

Chen T, Zhang B, Ziegenhals T, Prusty AB, Fröhler S, Grimm C, Hu Y, Schaefke B, Fang L, Zhang M, Kraemer N, Kaindl AM, Fischer U, Chen W.

PLoS Genet. 2019 Oct 31;15(10):e1008460. doi: 10.1371/journal.pgen.1008460. eCollection 2019 Oct.

2.

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

von der Hagen M, Becker LL, Wienker TF, Smitka M, Musante L, Ropers HH, Huebner A, Hu H, Kaindl AM.

Neuropediatrics. 2019 Oct 18. doi: 10.1055/s-0039-1695787. [Epub ahead of print]

PMID:
31627234
3.

Congenital microcephaly-linked CDK5RAP2 affects eye development.

Zaqout S, Ravindran E, Stoltenburg-Didinger G, Kaindl AM.

Ann Hum Genet. 2019 Jul 29. doi: 10.1111/ahg.12343. [Epub ahead of print]

PMID:
31355417
4.

Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease.

Nikolaus M, Tietze A, Schweizer L, Kaindl AM, Stenzel W, Schuelke M, Knierim E.

Brain Dev. 2019 Nov;41(10):901-904. doi: 10.1016/j.braindev.2019.07.002. Epub 2019 Jul 22.

PMID:
31345444
5.

Altered inhibition and excitation in neocortical circuits in congenital microcephaly.

Zaqout S, Blaesius K, Wu YJ, Ott S, Kraemer N, Becker LL, Rosário M, Rosenmund C, Strauss U, Kaindl AM.

Neurobiol Dis. 2019 Sep;129:130-143. doi: 10.1016/j.nbd.2019.05.008. Epub 2019 May 15.

PMID:
31102767
6.

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.

Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K.

Ann Clin Transl Neurol. 2019 Mar 3;6(4):655-668. doi: 10.1002/acn3.735. eCollection 2019 Apr.

7.

Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.

Toubiana S, Velasco G, Chityat A, Kaindl AM, Hershtig N, Tzur-Gilat A, Francastel C, Selig S.

Hum Mol Genet. 2018 Oct 15;27(20):3568-3581. doi: 10.1093/hmg/ddy265.

PMID:
30010917
8.

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.

Abbasi AA, Blaesius K, Hu H, Latif Z, Picker-Minh S, Khan MN, Farooq S, Khan MA, Kaindl AM.

Am J Med Genet B Neuropsychiatr Genet. 2017 Dec;174(8):839-845. doi: 10.1002/ajmg.b.32602. Epub 2017 Oct 14.

PMID:
29031008
9.

Corrigendum: Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system.

Baxter PS, Bell KFS, Hasel P, Kaindl AM, Fricker M, Thomson D, Cregan SP, Gillingwater TH, Hardingham GE.

Nat Commun. 2017 Sep 11;8:16158. doi: 10.1038/ncomms16158.

10.

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M.

Mitochondrion. 2017 Nov;37:46-54. doi: 10.1016/j.mito.2017.06.007. Epub 2017 Jul 4.

PMID:
28687512
11.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
12.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Ravindran E, Hu H, Yuzwa SA, Hernandez-Miranda LR, Kraemer N, Ninnemann O, Musante L, Boltshauser E, Schindler D, Hübner A, Reinecker HC, Ropers HH, Birchmeier C, Miller FD, Wienker TF, Hübner C, Kaindl AM.

PLoS Genet. 2017 Apr 28;13(4):e1006746. doi: 10.1371/journal.pgen.1006746. eCollection 2017 Apr.

13.

Autosomal Recessive Primary Microcephaly (MCPH): An Update.

Zaqout S, Morris-Rosendahl D, Kaindl AM.

Neuropediatrics. 2017 Jun;48(3):135-142. doi: 10.1055/s-0037-1601448. Epub 2017 Apr 11. Review.

PMID:
28399591
14.

Lacosamide Lowers Valproate and Levetiracetam Levels.

Tountopoulou M, Weschke B, Kaindl AM.

Neuropediatrics. 2017 Jun;48(3):188-189. doi: 10.1055/s-0037-1600112. Epub 2017 Mar 21.

PMID:
28324910
15.

Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.

Picker-Minh S, Hartenstein S, Proquitté H, Fröhler S, Raile V, Kraemer N, Apeshiotis S, Leipoldt M, Kalache KD, Morris-Rosendahl D, Boltshauser E, Chen W, Kaindl AM.

J Child Neurol. 2017 Mar;32(3):334-340. doi: 10.1177/0883073816680748. Epub 2016 Dec 20. Review.

PMID:
28193110
16.

PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

Doe J, Kaindl AM, Jijiwa M, de la Vega M, Hu H, Griffiths GS, Fontelonga TM, Barraza P, Cruz V, Van Ry P, Ramos JW, Burkin DJ, Matter ML.

Hum Mol Genet. 2017 Apr 15;26(8):1458-1464. doi: 10.1093/hmg/ddx048.

17.

CDK5RAP2 Is Required to Maintain the Germ Cell Pool during Embryonic Development.

Zaqout S, Bessa P, Krämer N, Stoltenburg-Didinger G, Kaindl AM.

Stem Cell Reports. 2017 Feb 14;8(2):198-204. doi: 10.1016/j.stemcr.2017.01.002. Epub 2017 Feb 2.

18.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 Feb;49(2):238-248. doi: 10.1038/ng.3743. Epub 2017 Jan 9. Erratum in: Nat Genet. 2017 May 26;49(6):969.

19.

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.

Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Gräf R, van den Heuvel L, Ropers HH, Wienker TF, Hübner C, Langer T, Kaindl AM.

Elife. 2016 Aug 6;5. pii: e16078. doi: 10.7554/eLife.16078.

20.

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Picker-Minh S, Mignot C, Doummar D, Hashem M, Faqeih E, Josset P, Dubern B, Alkuraya FS, Kraemer N, Kaindl AM.

Orphanet J Rare Dis. 2016 Apr 29;11(1):52. doi: 10.1186/s13023-016-0433-z.

21.

Golgi-Cox Staining Step by Step.

Zaqout S, Kaindl AM.

Front Neuroanat. 2016 Mar 31;10:38. doi: 10.3389/fnana.2016.00038. eCollection 2016.

22.

Acute Disseminated Encephalomyelitis After Human Parechovirus Infection.

Obermeier PE, Karsch K, Hoppe C, Seeber L, Schneider J, Mühlhans S, Chen X, Tief F, Kaindl AM, Weschke B, Böttcher S, Diedrich S, Rath B.

Pediatr Infect Dis J. 2016 Jan;35(1):35-8. doi: 10.1097/INF.0000000000000928.

PMID:
26741581
23.

Genetic causes of MCPH in consanguineous Pakistani families.

Kraemer N, Picker-Minh S, Abbasi AA, Fröhler S, Ninnemann O, Khan MN, Ali G, Chen W, Kaindl AM.

Clin Genet. 2016 Jun;89(6):744-5. doi: 10.1111/cge.12685. Epub 2015 Nov 8. No abstract available.

PMID:
26548919
24.

Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis.

Harbort CJ, Soeiro-Pereira PV, von Bernuth H, Kaindl AM, Costa-Carvalho BT, Condino-Neto A, Reichenbach J, Roesler J, Zychlinsky A, Amulic B.

Blood. 2015 Dec 24;126(26):2842-51. doi: 10.1182/blood-2015-05-645424. Epub 2015 Oct 21.

25.

Novel Alternative Splice Variants of Mouse Cdk5rap2.

Kraemer N, Issa-Jahns L, Neubert G, Ravindran E, Mani S, Ninnemann O, Kaindl AM.

PLoS One. 2015 Aug 31;10(8):e0136684. doi: 10.1371/journal.pone.0136684. eCollection 2015.

26.

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

Morris-Rosendahl DJ, Kaindl AM.

Mol Cell Probes. 2015 Oct;29(5):271-81. doi: 10.1016/j.mcp.2015.05.015. Epub 2015 Jun 4. Review.

27.

Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes.

Kraemer N, Ravindran E, Zaqout S, Neubert G, Schindler D, Ninnemann O, Gräf R, Seiler AE, Kaindl AM.

Cell Cycle. 2015;14(13):2044-57. doi: 10.1080/15384101.2015.1044169.

28.

Synaptic NMDA receptor activity is coupled to the transcriptional control of the glutathione system.

Baxter PS, Bell KF, Hasel P, Kaindl AM, Fricker M, Thomson D, Cregan SP, Gillingwater TH, Hardingham GE.

Nat Commun. 2015 Apr 9;6:6761. doi: 10.1038/ncomms7761.

29.

Redefining the MED13L syndrome.

Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM.

Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.

30.

Is microcephaly a so-far unrecognized feature of XYY syndrome?

Nguyen-Minh S, Bührer C, Hübner C, Kaindl AM.

Meta Gene. 2014 Jan 31;2:160-3. doi: 10.1016/j.mgene.2013.10.013. eCollection 2014 Dec.

31.

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.

Hoppe A, Heinemeyer J, Klopocki E, Graul-Neumann LM, Spors B, Bittigau P, Kaindl AM.

Meta Gene. 2014 Jan 11;2:72-82. doi: 10.1016/j.mgene.2013.10.014. eCollection 2014 Dec.

32.

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.

Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrötter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hübner C, Kaindl AM.

Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. doi: 10.1002/acn3.149. Epub 2014 Dec 3.

33.

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Picker-Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hübner C, Horn D, Kaindl AM.

Orphanet J Rare Dis. 2014 Oct 21;9:113. doi: 10.1186/s13023-014-0113-9.

34.

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).

von Bernuth H, Ravindran E, Du H, Fröhler S, Strehl K, Krämer N, Issa-Jahns L, Amulic B, Ninnemann O, Xiao MS, Eirich K, Kölsch U, Hauptmann K, John R, Schindler D, Wahn V, Chen W, Kaindl AM.

Orphanet J Rare Dis. 2014 Oct 21;9:116. doi: 10.1186/s13023-014-0116-6.

35.

Autosomal recessive primary microcephalies (MCPH).

Kaindl AM.

Eur J Paediatr Neurol. 2014 Jul;18(4):547-8. doi: 10.1016/j.ejpn.2014.03.010. Epub 2014 Apr 16.

PMID:
24780602
36.

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Hu H, Suckow V, Musante L, Roggenkamp V, Kraemer N, Ropers HH, Hübner C, Wienker TF, Kaindl AM.

Cell Cycle. 2014;13(10):1650-1. doi: 10.4161/cc.28706. Epub 2014 Apr 1. No abstract available.

37.

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.

von der Hagen M, Pivarcsi M, Liebe J, von Bernuth H, Didonato N, Hennermann JB, Bührer C, Wieczorek D, Kaindl AM.

Dev Med Child Neurol. 2014 Aug;56(8):732-41. doi: 10.1111/dmcn.12425. Epub 2014 Mar 12. Review.

38.

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.

Farag HG, Froehler S, Oexle K, Ravindran E, Schindler D, Staab T, Huebner A, Kraemer N, Chen W, Kaindl AM.

Orphanet J Rare Dis. 2013 Nov 14;8:178. doi: 10.1186/1750-1172-8-178.

39.

Growth and psychomotor development of patients with Duchenne muscular dystrophy.

Sarrazin E, von der Hagen M, Schara U, von Au K, Kaindl AM.

Eur J Paediatr Neurol. 2014 Jan;18(1):38-44. doi: 10.1016/j.ejpn.2013.08.008. Epub 2013 Sep 25.

PMID:
24100172
40.

WITHDRAWN: Is microcephaly a so-far unrecognized feature of XYY syndrome?

Nguyen-Minh S, Bührer C, Hübner C, Kaindl AM.

Gene. 2013 Sep 12. pii: S0378-1119(13)01183-9. doi: 10.1016/j.gene.2013.09.009. [Epub ahead of print]

PMID:
24035900
41.

Microcephaly.

Passemard S, Kaindl AM, Verloes A.

Handb Clin Neurol. 2013;111:129-41. doi: 10.1016/B978-0-444-52891-9.00013-0. Review.

PMID:
23622158
42.

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.

Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl AM, Morris-Rosendahl DJ.

Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59.

43.

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Nguyen-Minh S, Drossel K, Horn D, Rost I, Spors B, Kaindl AM.

Gene. 2013 Jul 1;523(1):92-8. doi: 10.1016/j.gene.2013.03.078. Epub 2013 Apr 5.

PMID:
23566840
44.

G protein-coupled receptor kinase 2 and group I metabotropic glutamate receptors mediate inflammation-induced sensitization to excitotoxic neurodegeneration.

Degos V, Peineau S, Nijboer C, Kaindl AM, Sigaut S, Favrais G, Plaisant F, Teissier N, Gouadon E, Lombet A, Saliba E, Collingridge GL, Maze M, Nicoletti F, Heijnen C, Mantz J, Kavelaars A, Gressens P.

Ann Neurol. 2013 May;73(5):667-78. doi: 10.1002/ana.23868. Epub 2013 Mar 14.

45.

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

Neubert G, von Au K, Drossel K, Tzschach A, Horn D, Nickel R, Kaindl AM.

Gene. 2013 Jan 10;512(2):453-5. doi: 10.1016/j.gene.2012.10.061. Epub 2012 Nov 1.

PMID:
23124039
46.

Activation of microglial N-methyl-D-aspartate receptors triggers inflammation and neuronal cell death in the developing and mature brain.

Kaindl AM, Degos V, Peineau S, Gouadon E, Chhor V, Loron G, Le Charpentier T, Josserand J, Ali C, Vivien D, Collingridge GL, Lombet A, Issa L, Rene F, Loeffler JP, Kavelaars A, Verney C, Mantz J, Gressens P.

Ann Neurol. 2012 Oct;72(4):536-49. doi: 10.1002/ana.23626.

PMID:
23109148
47.

CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly.

Issa L, Kraemer N, Rickert CH, Sifringer M, Ninnemann O, Stoltenburg-Didinger G, Kaindl AM.

Cereb Cortex. 2013 Sep;23(9):2245-60. doi: 10.1093/cercor/bhs212. Epub 2012 Jul 17.

PMID:
22806269
48.

Reference genes in the developing murine brain and in differentiating embryonic stem cells.

Kraemer N, Neubert G, Issa L, Ninnemann O, Seiler AE, Kaindl AM.

Neurol Res. 2012 Sep;34(7):664-8. doi: 10.1179/1743132812Y.0000000060. Epub 2012 Jun 26.

PMID:
22735032
49.

[Treating Neonates with Levetiracetam: a survey among German University Hospitals].

Koppelstäetter A, Bührer C, Kaindl AM.

Klin Padiatr. 2011 Dec;223(7):450-2. doi: 10.1055/s-0031-1287822. Epub 2011 Nov 21. German.

PMID:
22105561
50.

The yin and yang of microglia.

Czeh M, Gressens P, Kaindl AM.

Dev Neurosci. 2011;33(3-4):199-209. doi: 10.1159/000328989. Epub 2011 Jul 15. Review.

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