Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 227


A novel variant in the spatacsin gene causing SPG11 in a Malian family.

Landouré G, Dembélé K, Diarra S, Cissé L, Samassékou O, Bocoum A, Yalcouyé A, Traoré M, Fischbeck KH, Guinto CO; H3Africa Consortium.

J Neurol Sci. 2020 Apr 15;411:116675. doi: 10.1016/j.jns.2020.116675. Epub 2020 Jan 7. No abstract available.


Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.

Grunseich C, Patankar A, Amaya J, Watts JA, Li D, Ramirez P, Schindler AB, Fischbeck KH, Cheung VG.

Ann Neurol. 2020 Apr;87(4):547-555. doi: 10.1002/ana.25681. Epub 2020 Jan 28.


Hereditary spastic paraplegia type 35 in a family from Mali.

Landouré G, Dembélé K, Cissé L, Samassékou O, Diarra S, Bocoum A, Dembélé ME, Fischbeck KH, Guinto CO; from The H3Africa Consortium.

Am J Med Genet A. 2019 Jul;179(7):1122-1125. doi: 10.1002/ajmg.a.61179. Epub 2019 May 14.


Oligonucleotide Treatment for Huntington's Disease.

Fischbeck KH, Wexler NS.

N Engl J Med. 2019 Jun 13;380(24):2373-2374. doi: 10.1056/NEJMe1904861. Epub 2019 May 6. No abstract available.


Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S.

Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.


Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.

Grunseich C, Miller R, Swan T, Glass DJ, El Mouelhi M, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH; BVS857 study group.

Lancet Neurol. 2018 Dec;17(12):1043-1052. doi: 10.1016/S1474-4422(18)30320-X. Epub 2018 Oct 15.


Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents.

Pourshafie N, Lee PR, Chen KL, Harmison GG, Bott LC, Fischbeck KH, Rinaldi C.

J Vis Exp. 2018 Aug 10;(138). doi: 10.3791/55724.


Nucleocytoplasmic transport defect in a North American patient with ALS8.

Guber RD, Schindler AB, Budron MS, Chen KL, Li Y, Fischbeck KH, Grunseich C.

Ann Clin Transl Neurol. 2018 Feb 4;5(3):369-375. doi: 10.1002/acn3.515. eCollection 2018 Mar.


Spinal muscular atrophy.

Arnold ES, Fischbeck KH.

Handb Clin Neurol. 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. Review.


Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.

Grunseich C, Wang IX, Watts JA, Burdick JT, Guber RD, Zhu Z, Bruzel A, Lanman T, Chen K, Schindler AB, Edwards N, Ray-Chaudhury A, Yao J, Lehky T, Piszczek G, Crain B, Fischbeck KH, Cheung VG.

Mol Cell. 2018 Feb 1;69(3):426-437.e7. doi: 10.1016/j.molcel.2017.12.030. Epub 2018 Jan 27.


Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy.

Guber RD, Takyar V, Kokkinis A, Fox DA, Alao H, Kats I, Bakar D, Remaley AT, Hewitt SM, Kleiner DE, Liu CY, Hadigan C, Fischbeck KH, Rotman Y, Grunseich C.

Neurology. 2017 Dec 12;89(24):2481-2490. doi: 10.1212/WNL.0000000000004748. Epub 2017 Nov 15.


Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy.

Mankodi A, Kovacs W, Norato G, Hsieh N, Bandettini WP, Bishop CA, Shimellis H, Newbould RD, Kim E, Fischbeck KH, Arai AE, Yao J.

Ann Clin Transl Neurol. 2017 Jul 28;4(9):655-662. doi: 10.1002/acn3.440. eCollection 2017 Sep.


Patient-identified impact of symptoms in spinal and bulbar muscular atrophy.

Guber RD, Kokkinis AD, Schindler AB, Bendixen RM, Heatwole CR, Fischbeck KH, Grunseich C.

Muscle Nerve. 2018 Jan;57(1):40-44. doi: 10.1002/mus.25957. Epub 2017 Sep 25.


Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy.

Mankodi A, Azzabou N, Bulea T, Reyngoudt H, Shimellis H, Ren Y, Kim E, Fischbeck KH, Carlier PG.

Neuromuscul Disord. 2017 Aug;27(8):705-714. doi: 10.1016/j.nmd.2017.04.008. Epub 2017 Apr 28.


Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion.

Martin JE, Nguyen TT, Grunseich C, Nofziger JH, Lee PR, Fields D, Fischbeck KH, Foran E.

J Neurosci. 2017 May 24;37(21):5309-5318. doi: 10.1523/JNEUROSCI.3472-16.2017. Epub 2017 Apr 27.


A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.

Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G.

Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr.


Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy.

Gaur L, Hanna A, Bandettini WP, Fischbeck KH, Arai AE, Mankodi A.

Ann Clin Transl Neurol. 2016 Oct 19;3(12):948-955. doi: 10.1002/acn3.367. eCollection 2016 Dec.


Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy.

Polanco MJ, Parodi S, Piol D, Stack C, Chivet M, Contestabile A, Miranda HC, Lievens PM, Espinoza S, Jochum T, Rocchi A, Grunseich C, Gainetdinov RR, Cato AC, Lieberman AP, La Spada AR, Sambataro F, Fischbeck KH, Gozes I, Pennuto M.

Sci Transl Med. 2016 Dec 21;8(370):370ra181. doi: 10.1126/scitranslmed.aaf9526.


ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice.

Abera MB, Xiao J, Nofziger J, Titus S, Southall N, Zheng W, Moritz KE, Ferrer M, Cherry JJ, Androphy EJ, Wang A, Xu X, Austin C, Fischbeck KH, Marugan JJ, Burnett BG.

JCI Insight. 2016 Nov 17;1(19):e88427. doi: 10.1172/jci.insight.88427.


Sexual Reassignment Fails to Prevent Kennedy's Disease.

Lanman TA, Bakar D, Badders NM, Burke A, Kokkinis A, Shrader JA, Joe GO, Schindler AB, Bott LC, Harmison GG, Taylor JP, Fischbeck KH, Grunseich C.

J Neuromuscul Dis. 2016 Mar 3;3(1):121-125.


Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy.

Mankodi A, Bishop CA, Auh S, Newbould RD, Fischbeck KH, Janiczek RL.

Neuromuscul Disord. 2016 Oct;26(10):650-658. doi: 10.1016/j.nmd.2016.07.013. Epub 2016 Jul 28.


The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex.

Bott LC, Salomons FA, Maric D, Liu Y, Merry D, Fischbeck KH, Dantuma NP.

Sci Rep. 2016 Jun 17;6:27703. doi: 10.1038/srep27703.


Genetics and genomic medicine in Mali: challenges and future perspectives.

Landouré G, Samassékou O, Traoré M, Meilleur KG, Guinto CO, Burnett BG, Sumner CJ, Fischbeck KH.

Mol Genet Genomic Med. 2016 Mar 17;4(2):126-34. doi: 10.1002/mgg3.212. eCollection 2016 Mar.


A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy.

Bott LC, Badders NM, Chen KL, Harmison GG, Bautista E, Shih CC, Katsuno M, Sobue G, Taylor JP, Dantuma NP, Fischbeck KH, Rinaldi C.

Hum Mol Genet. 2016 May 15;25(10):1979-1989. Epub 2016 Mar 8.


Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo.

Hjelm BE, Grunseich C, Gowing G, Avalos P, Tian J, Shelley BC, Mooney M, Narwani K, Shi Y, Svendsen CN, Wolfe JH, Fischbeck KH, Pierson TM.

Gene Ther. 2016 May;23(5):424-37. doi: 10.1038/gt.2016.13. Epub 2016 Feb 10.


CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy.

Foran E, Kwon DY, Nofziger JH, Arnold ES, Hall MD, Fischbeck KH, Burnett BG.

Neurobiol Dis. 2016 Apr;88:118-24. doi: 10.1016/j.nbd.2016.01.008. Epub 2016 Jan 11.


MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy.

Pourshafie N, Lee PR, Chen KL, Harmison GG, Bott LC, Katsuno M, Sobue G, Burnett BG, Fischbeck KH, Rinaldi C.

Mol Ther. 2016 May;24(5):937-45. doi: 10.1038/mt.2016.13. Epub 2016 Jan 12.


Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

Sangare M, Dicko I, Guinto CO, Sissoko A, Dembele K, Coulibaly Y, Coulibaly SY, Landoure G, Diallo A, Dolo M, Dolo H, Maiga B, Traore M, Karembe M, Traore K, Toure A, Sylla M, Togora A, Coulibaly S, Traore SF, Hendrickson B, Bricceno K, Schindler AB, Kokkinis A, Meilleur KG, Sangho HA, Diakite B, Kassogue Y, Coulibaly YI, Burnett B, Maiga Y, Doumbia S, Fischbeck KH.

eNeurologicalSci. 2016 Jan 4;3:17-20. doi: 10.1016/j.ensci.2015.12.001. eCollection 2016 Jun.


Spinal and Bulbar Muscular Atrophy Overview.

Fischbeck KH.

J Mol Neurosci. 2016 Mar;58(3):317-20. doi: 10.1007/s12031-015-0674-7. Epub 2015 Nov 7. Review.


Spinal and Bulbar Muscular Atrophy.

Grunseich C, Fischbeck KH.

Neurol Clin. 2015 Nov;33(4):847-54. doi: 10.1016/j.ncl.2015.07.002. Epub 2015 Sep 8. Review.


Epilepsy genetics in Africa: challenges and future perspectives.

Landouré G, Maiga Y, Samassékou O, Nimaga K, Traoré M, Fischbeck KH.

North Afr Middle East Epilepsy J. 2014 Sep-Oct;3(5):5-7.


A randomized controlled trial of exercise in spinal and bulbar muscular atrophy.

Shrader JA, Kats I, Kokkinis A, Zampieri C, Levy E, Joe GO, Woolstenhulme JG, Drinkard BE, Smith MR, Ching W, Ghosh L, Fox D, Auh S, Schindler AB, Fischbeck KH, Grunseich C.

Ann Clin Transl Neurol. 2015 Jul;2(7):739-47. doi: 10.1002/acn3.208. Epub 2015 May 7.


The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity.

Belikov S, Bott LC, Fischbeck KH, Wrange Ö.

Biochem Biophys Rep. 2015 Jul 26;3:134-139. doi: 10.1016/j.bbrep.2015.07.014. eCollection 2015 Sep.


A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study.

Hashizume A, Katsuno M, Suzuki K, Banno H, Suga N, Mano T, Araki A, Hijikata Y, Grunseich C, Kokkinis A, Hirakawa A, Watanabe H, Yamamoto M, Fischbeck KH, Sobue G.

Neuromuscul Disord. 2015 Jul;25(7):554-62. doi: 10.1016/j.nmd.2015.03.008. Epub 2015 Mar 20.


Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH.

JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. Erratum in: JAMA Neurol. 2015 May;72(5):608.


Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.

Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhury A, Lehky TJ, Baker EH, Maragakis NJ, Tifft CJ, Fischbeck KH.

J Neurol. 2015;262(4):1066-8. doi: 10.1007/s00415-015-7683-x. Epub 2015 Mar 4. No abstract available.


Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.

Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG.

Neuromuscul Disord. 2015 Jan;25(1):43-54. doi: 10.1016/j.nmd.2014.09.010. Epub 2014 Sep 28.


Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.

Grunseich C, Kats IR, Bott LC, Rinaldi C, Kokkinis A, Fox D, Chen KL, Schindler AB, Mankodi AK, Shrader JA, Schwartz DP, Lehky TJ, Liu CY, Fischbeck KH.

Neuromuscul Disord. 2014 Nov;24(11):978-81. doi: 10.1016/j.nmd.2014.06.441. Epub 2014 Jul 3.


Research capacity. Enabling the genomic revolution in Africa.

H3Africa Consortium, Rotimi C, Abayomi A, Abimiku A, Adabayeri VM, Adebamowo C, Adebiyi E, Ademola AD, Adeyemo A, Adu D, Affolabi D, Agongo G, Ajayi S, Akarolo-Anthony S, Akinyemi R, Akpalu A, Alberts M, Alonso Betancourt O, Alzohairy AM, Ameni G, Amodu O, Anabwani G, Andersen K, Arogundade F, Arulogun O, Asogun D, Bakare R, Balde N, Baniecki ML, Beiswanger C, Benkahla A, Bethke L, Boehnke M, Boima V, Brandful J, Brooks AI, Brosius FC, Brown C, Bucheton B, Burke DT, Burnett BG, Carrington-Lawrence S, Carstens N, Chisi J, Christoffels A, Cooper R, Cordell H, Crowther N, Croxton T, de Vries J, Derr L, Donkor P, Doumbia S, Duncanson A, Ekem I, El Sayed A, Engel ME, Enyaru JC, Everett D, Fadlelmola FM, Fakunle E, Fischbeck KH, Fischer A, Folarin O, Gamieldien J, Garry RF, Gaseitsiwe S, Gbadegesin R, Ghansah A, Giovanni M, Goesbeck P, Gomez-Olive FX, Grant DS, Grewal R, Guyer M, Hanchard NA, Happi CT, Hazelhurst S, Hennig BJ, Hertz- C, Fowler, Hide W, Hilderbrandt F, Hugo-Hamman C, Ibrahim ME, James R, Jaufeerally-Fakim Y, Jenkins C, Jentsch U, Jiang PP, Joloba M, Jongeneel V, Joubert F, Kader M, Kahn K, Kaleebu P, Kapiga SH, Kassim SK, Kasvosve I, Kayondo J, Keavney B, Kekitiinwa A, Khan SH, Kimmel P, King MC, Kleta R, Koffi M, Kopp J, Kretzler M, Kumuthini J, Kyobe S, Kyobutungi C, Lackland DT, Lacourciere KA, Landouré G, Lawlor R, Lehner T, Lesosky M, Levitt N, Littler K, Lombard Z, Loring JF, Lyantagaye S, Macleod A, Madden EB, Mahomva CR, Makani J, Mamven M, Marape M, Mardon G, Marshall P, Martin DP, Masiga D, Mason R, Mate-Kole M, Matovu E, Mayige M, Mayosi BM, Mbanya JC, McCurdy SA, McCarthy MI, McIlleron H, Mc'Ligeyo SO, Merle C, Mocumbi AO, Mondo C, Moran JV, Motala A, Moxey-Mims M, Mpoloka WS, Msefula CL, Mthiyane T, Mulder N, Mulugeta Gh, Mumba D, Musuku J, Nagdee M, Nash O, Ndiaye D, Nguyen AQ, Nicol M, Nkomazana O, Norris S, Nsangi B, Nyarko A, Nyirenda M, Obe E, Obiakor R, Oduro A, Ofori-Acquah SF, Ogah O, Ogendo S, Ohene-Frempong K, Ojo A, Olanrewaju T, Oli J, Osafo C, Ouwe Missi Oukem-Boyer O, Ovbiagele B, Owen A, Owolabi MO, Owolabi L, Owusu-Dabo E, Pare G, Parekh R, Patterton HG, Penno MB, Peterson J, Pieper R, Plange-Rhule J, Pollak M, Puzak J, Ramesar RS, Ramsay M, Rasooly R, Reddy S, Sabeti PC, Sagoe K, Salako T, Samassékou O, Sandhu MS, Sankoh O, Sarfo FS, Sarr M, Shaboodien G, Sidibe I, Simo G, Simuunza M, Smeeth L, Sobngwi E, Soodyall H, Sorgho H, Sow Bah O, Srinivasan S, Stein DJ, Susser ES, Swanepoel C, Tangwa G, Tareila A, Tastan Bishop O, Tayo B, Tiffin N, Tinto H, Tobin E, Tollman SM, Traoré M, Treadwell MJ, Troyer J, Tsimako-Johnstone M, Tukei V, Ulasi I, Ulenga N, van Rooyen B, Wachinou AP, Waddy SP, Wade A, Wayengera M, Whitworth J, Wideroff L, Winkler CA, Winnicki S, Wonkam A, Yewondwos M, sen T, Yozwiak N, Zar H.

Science. 2014 Jun 20;344(6190):1346-8. doi: 10.1126/science.1251546. No abstract available.


Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients.

Grunseich C, Zukosky K, Kats IR, Ghosh L, Harmison GG, Bott LC, Rinaldi C, Chen KL, Chen G, Boehm M, Fischbeck KH.

Neurobiol Dis. 2014 Oct;70:12-20. doi: 10.1016/j.nbd.2014.05.038. Epub 2014 Jun 9.


Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool.

Harris-Love MO, Fernandez-Rhodes L, Joe G, Shrader JA, Kokkinis A, La Pean Kirschner A, Auh S, Chen C, Li L, Levy E, Davenport TE, Di Prospero NA, Fischbeck KH.

Rehabil Res Pract. 2014;2014:873872. doi: 10.1155/2014/873872. Epub 2014 May 5.


CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.

Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A.

Neurobiol Dis. 2014 Aug;68:180-9. doi: 10.1016/j.nbd.2014.04.020. Epub 2014 May 5.


Nicotinamide in Friedreich's ataxia: useful or not?

Lynch DR, Fischbeck KH.

Lancet. 2014 Aug 9;384(9942):474-5. doi: 10.1016/S0140-6736(14)60573-0. Epub 2014 Apr 30. No abstract available.


Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.

Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG.

Hum Mol Genet. 2014 Sep 15;23(18):4745-57. doi: 10.1093/hmg/ddu189. Epub 2014 Apr 23.


Muscle matters in Kennedy's disease.

Rinaldi C, Bott LC, Fischbeck KH.

Neuron. 2014 Apr 16;82(2):251-3. doi: 10.1016/j.neuron.2014.04.005.


Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.

Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, Kaufman JD, Wingfield PT, Griggs RC, Fischbeck KH, Mankodi A.

J Biol Chem. 2014 May 9;289(19):13615-26. doi: 10.1074/jbc.M114.550418. Epub 2014 Mar 25.


Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH.

Ann Neurol. 2014 Apr;75(4):525-32. doi: 10.1002/ana.24114. Epub 2014 Apr 2.


Proceedings of the fourth international conference on central hypoventilation.

Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G; European Central Hypoventilation Syndrome Consortium.

Orphanet J Rare Dis. 2014 Dec 5;9:194. doi: 10.1186/s13023-014-0194-5. Review.


Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center, Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG.

Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12.

Supplemental Content

Loading ...
Support Center