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Items: 1 to 50 of 363

1.

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.

Zehavi Y, Mandel H, Eran A, Ravid S, Abu Rashid M, Jansen EEW, Wamelink MMC, Saada A, Shaag A, Elpeleg O, Spiegel R.

Metab Brain Dis. 2019 Jan 12. doi: 10.1007/s11011-019-0384-x. [Epub ahead of print]

PMID:
30637540
2.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.

Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3.

PMID:
30612693
3.

Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.

Chen CW, Wang HL, Huang CW, Huang CY, Lim WK, Tu IC, Koorapati A, Hsieh ST, Kan HW, Tzeng SR, Liao JC, Chong WM, Naroditzky I, Kidron D, Eran A, Nijim Y, Sela E, Feldman HB, Kalfon L, Raveh-Barak H, Falik-Zaccai TC, Elpeleg O, Mandel H, Chang ZF.

Proc Natl Acad Sci U S A. 2019 Jan 8;116(2):566-574. doi: 10.1073/pnas.1818629116. Epub 2018 Dec 26.

PMID:
30587587
4.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.

Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.

5.

Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment.

DeBarber AE, Kalfon L, Fedida A, Fleisher Sheffer V, Ben Haroush S, Chasnyk N, Shuster Biton E, Mandel H, Jeffries K, Shinwell ES, Falik-Zaccai TC.

J Lipid Res. 2018 Nov;59(11):2214-2222. doi: 10.1194/jlr.M087999. Epub 2018 Aug 22.

PMID:
30135217
6.

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA.

Neurol Genet. 2018 Mar 21;4(2):e223. doi: 10.1212/NXG.0000000000000223. eCollection 2018 Apr.

7.

A Second Look at the Process of Occupational Feminization and Pay Reduction in Occupations.

Mandel H.

Demography. 2018 Apr;55(2):669-690. doi: 10.1007/s13524-018-0657-8.

PMID:
29569029
8.

EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.

Horibata Y, Elpeleg O, Eran A, Hirabayashi Y, Savitzki D, Tal G, Mandel H, Sugimoto H.

J Lipid Res. 2018 Jun;59(6):1015-1026. doi: 10.1194/jlr.P081620. Epub 2018 Mar 2.

PMID:
29500230
9.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL.

Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019.

PMID:
29474921
10.

Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease.

Bar-Yoseph R, Mandel H, Mainzer G, Gur M, Tal G, Shalloufeh G, Bentur L.

Pediatr Pulmonol. 2018 Mar;53(3):366-373. doi: 10.1002/ppul.23830. Epub 2018 Jan 22.

PMID:
29356433
11.

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 May;22(3):525-531. doi: 10.1016/j.ejpn.2017.12.012. Epub 2017 Dec 26.

PMID:
29337005
12.

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D.

Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7.

13.

Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes.

Hallas T, Eisen B, Shemer Y, Ben Jehuda R, Mekies LN, Naor S, Schick R, Eliyahu S, Reiter I, Vlodavsky E, Katz YS, Õunap K, Lorber A, Rodenburg R, Mandel H, Gherghiceanu M, Binah O.

J Cell Mol Med. 2018 Feb;22(2):913-925. doi: 10.1111/jcmm.13392. Epub 2017 Nov 28.

14.

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.

Falik-Zaccai TC, Barsheshet Y, Mandel H, Segev M, Lorber A, Gelberg S, Kalfon L, Ben Haroush S, Shalata A, Gelernter-Yaniv L, Chaim S, Raviv Shay D, Khayat M, Werbner M, Levi I, Shoval Y, Tal G, Shalev S, Reuveni E, Avitan-Hersh E, Vlodavsky E, Appl-Sarid L, Goldsher D, Bergman R, Segal Z, Bitterman-Deutsch O, Avni O.

EMBO Mol Med. 2017 Sep;9(9):1326. doi: 10.15252/emmm.201708209. No abstract available.

15.

Cue-dependent inhibition in posttraumatic stress disorder and attention-deficit/hyperactivity disorder.

Adams ZW, Meinzer M, Mandel H, Voltin J, Caughron B, Sallee FR, Hamner M, Wang Z.

J Anxiety Disord. 2017 Oct;51:1-6. doi: 10.1016/j.janxdis.2017.08.003. Epub 2017 Aug 9.

PMID:
28818658
16.

Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.

Kurolap A, Eshach-Adiv O, Hershkovitz T, Paperna T, Mory A, Oz-Levi D, Zohar Y, Mandel H, Chezar J, Azoulay D, Peleg S, Half EE, Yahalom V, Finkel L, Weissbrod O, Geiger D, Tabib A, Shaoul R, Magen D, Bonstein L, Mevorach D, Baris HN.

N Engl J Med. 2017 Jul 6;377(1):87-89. doi: 10.1056/NEJMc1707173. Epub 2017 Jun 28. No abstract available.

PMID:
28657861
17.

Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation).

Yardeni M, Weisman O, Mandel H, Weinberger R, Quarta G, Salazar-Mendiguchía J, Garcia-Pavia P, Lobato-Rodríguez MJ, Simon LF, Dov F, Arad M, Gothelf D.

Am J Med Genet A. 2017 Sep;173(9):2461-2466. doi: 10.1002/ajmg.a.38320. Epub 2017 Jun 19.

18.

[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].

Kalfon L, Weissman I, Hershkovits M, Nasser Samra N, Edri N, Khayat M, Tanus M, Shihab S, Mandel H, Falik-Zaccai T.

Harefuah. 2017 Mar;156(3):156-162. Hebrew.

PMID:
28551940
19.

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

Zehavi Y, Mandel H, Zehavi A, Rashid MA, Straussberg R, Jabur B, Shaag A, Elpeleg O, Spiegel R.

Eur J Med Genet. 2017 Jun;60(6):317-320. doi: 10.1016/j.ejmg.2017.04.001. Epub 2017 Apr 5.

PMID:
28389307
20.

Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N.

J Hum Genet. 2017 Apr;62(5):587. doi: 10.1038/jhg.2017.13. Epub 2017 Feb 16. No abstract available.

PMID:
28202951
21.

The relation between GAD1 and PTSD symptoms: Shared risk for depressive symptoms.

Bountress K, Sheerin C, Amstadter AB, Mandel H, Voltin J, Wang Z.

Psychiatry Res. 2017 Dec;258:607-608. doi: 10.1016/j.psychres.2017.01.010. Epub 2017 Jan 5. No abstract available.

22.

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N.

J Hum Genet. 2017 Apr;62(5):525-529. doi: 10.1038/jhg.2016.163. Epub 2017 Jan 12.

PMID:
28077841
23.

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.

Falik-Zaccai TC, Barsheshet Y, Mandel H, Segev M, Lorber A, Gelberg S, Kalfon L, Ben Haroush S, Shalata A, Gelernter-Yaniv L, Chaim S, Raviv Shay D, Khayat M, Werbner M, Levi I, Shoval Y, Tal G, Shalev S, Reuveni E, Avitan-Hersh E, Vlodavsky E, Appl-Sarid L, Goldsher D, Bergman R, Segal Z, Bitterman-Deutsch O, Avni O.

EMBO Mol Med. 2017 Mar;9(3):319-336. doi: 10.15252/emmm.201606523. Erratum in: EMBO Mol Med. 2017 Sep;9(9):1326.

24.

Relationships between GAT1 and PTSD, Depression, and Substance Use Disorder.

Bountress KE, Wei W, Sheerin C, Chung D, Amstadter AB, Mandel H, Wang Z.

Brain Sci. 2017 Jan 5;7(1). pii: E6. doi: 10.3390/brainsci7010006.

25.

Duration of Oxytocin and Rupture of the Membranes Before Diagnosing a Failed Induction of Labor.

Mandel HC.

Obstet Gynecol. 2016 Nov;128(5):1183. No abstract available.

PMID:
27776060
26.

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN.

Am J Hum Genet. 2016 Nov 3;99(5):1172-1180. doi: 10.1016/j.ajhg.2016.09.004. Epub 2016 Oct 20.

27.

TBCK-related intellectual disability syndrome: Case study of two patients.

Mandel H, Khayat M, Chervinsky E, Elpeleg O, Shalev S.

Am J Med Genet A. 2017 Feb;173(2):491-494. doi: 10.1002/ajmg.a.38019. Epub 2016 Oct 17.

PMID:
27748029
28.

Pulmonary manifestations of prolidase deficiency.

Nir V, Ilivitky A, Hakim F, Yoseph RB, Gur M, Mandel H, Bentur L.

Pediatr Pulmonol. 2016 Nov;51(11):1229-1233. doi: 10.1002/ppul.23435. Epub 2016 May 1.

PMID:
27132891
29.

Direct Measurement of Correlation Responses in Drosophila Elementary Motion Detectors Reveals Fast Timescale Tuning.

Salazar-Gatzimas E, Chen J, Creamer MS, Mano O, Mandel HB, Matulis CA, Pottackal J, Clark DA.

Neuron. 2016 Oct 5;92(1):227-239. doi: 10.1016/j.neuron.2016.09.017.

30.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ.

Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.

31.

An exploratory approach demonstrating immune skewing and a loss of coordination among cytokines in plasma and saliva of Veterans with combat-related PTSD.

Wang Z, Mandel H, Levingston CA, Young MRI.

Hum Immunol. 2016 Aug;77(8):652-657. doi: 10.1016/j.humimm.2016.05.018. Epub 2016 May 20.

32.

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O.

J Med Genet. 2016 Oct;53(10):690-6. doi: 10.1136/jmedgenet-2016-103922. Epub 2016 May 12.

PMID:
27208207
34.

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

Gal M, Magen D, Zahran Y, Ravid S, Eran A, Khayat M, Gafni C, Levanon EY, Mandel H.

Eur J Med Genet. 2016 Apr;59(4):204-9. doi: 10.1016/j.ejmg.2016.02.007. Epub 2016 Feb 23.

PMID:
26923739
35.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

36.

Preparedness of Obstetrics and Gynecology Residents for Fellowship Training.

Mandel HC.

Obstet Gynecol. 2016 Jan;127(1):161. doi: 10.1097/AOG.0000000000001218. No abstract available.

PMID:
26695563
37.

The role of occupational attributes in gender earnings inequality, 1970-2010.

Mandel H.

Soc Sci Res. 2016 Jan;55:122-38. doi: 10.1016/j.ssresearch.2015.09.007. Epub 2015 Oct 22.

PMID:
26680293
38.

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.

Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN.

Clin Genet. 2016 Jul;90(1):84-9. doi: 10.1111/cge.12707. Epub 2016 Jan 20.

PMID:
26661508
39.

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.

Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman-Sagie T, Zerem A, Podeh B, Anikster Y, Shaag A, Luder A, Staretz Chacham O, Spiegel R.

J Inherit Metab Dis. 2016 Mar;39(2):211-7. doi: 10.1007/s10545-015-9899-4. Epub 2015 Nov 13.

PMID:
26566957
40.

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P.

J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11.

41.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL.

Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.

42.

Exploring the association between a cholecystokinin promoter polymorphism (rs1799923) and posttraumatic stress disorder in combat veterans.

Badour CL, Hirsch RL, Zhang J, Mandel H, Hamner M, Wang Z.

J Anxiety Disord. 2015 Dec;36:78-83. doi: 10.1016/j.janxdis.2015.09.009. Epub 2015 Sep 28.

PMID:
26454231
43.

Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy.

Jacob R, Mandel H, Shehadeh N.

Child Neurol Open. 2015 Oct 6;2(4):2329048X15609606. doi: 10.1177/2329048X15609606. eCollection 2015 Oct-Dec.

44.

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M.

Brain. 2015 Oct;138(Pt 10):2847-58. doi: 10.1093/brain/awv226. Epub 2015 Aug 10.

45.

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Riemersma M, Mandel H, van Beusekom E, Gazzoli I, Roscioli T, Eran A, Gershoni-Baruch R, Gershoni M, Pietrokovski S, Vissers LE, Lefeber DJ, Willemsen MA, Wevers RA, van Bokhoven H.

Neurology. 2015 May 26;84(21):2177-82. doi: 10.1212/WNL.0000000000001615. Epub 2015 May 1.

PMID:
25934851
46.

The Effects of Inattentiveness and Hyperactivity on Posttraumatic Stress Symptoms: Does a Diagnosis of Posttraumatic Stress Disorder Matter?

Adams Z, Adams T, Stauffacher K, Mandel H, Wang Z.

J Atten Disord. 2015 Apr 16. pii: 1087054715580846. [Epub ahead of print]

47.

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. No abstract available.

PMID:
25778942
48.

Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H.

Hum Genet. 2015 Mar;134(3):315. doi: 10.1007/s00439-015-1530-0. No abstract available.

PMID:
25609191
49.

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H.

Hum Genet. 2015 Mar;134(3):305-14. doi: 10.1007/s00439-014-1522-5. Epub 2015 Jan 6. Erratum in: Hum Genet. 2015 Mar;134(3):315. Katib, Nassser [corrected to Katib, Nasser]; Zur, Shay [corrected to Tzur, Shay].

PMID:
25560765
50.

Long-Term Follow-Up of Pompe Patients in Israel and Gaza: Insights into Therapeutic Effects of Enzyme Replacement Therapy.

Mandel H, Hershkovitz E, Zecharia A, Lorber A, Bentur L, Dumin E.

J Neuromuscul Dis. 2015;2(s1):S65-S66. No abstract available.

PMID:
27858654

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