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Items: 1 to 50 of 85

1.

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.

2.

Neurodevelopmental outcomes in children with large temporal arachnoid cysts.

Schertz M, Constantini S, Eshel R, Sela AH, Roth J, Fattal-Valevski A.

J Neurosurg Pediatr. 2018 Mar 9:1-9. doi: 10.3171/2017.11.PEDS17490. [Epub ahead of print]

PMID:
29521605
3.

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A.

J Hum Genet. 2018 May;63(5):673-676. doi: 10.1038/s10038-018-0421-3. Epub 2018 Feb 28.

PMID:
29491473
4.

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

Guen VJ, Edvardson S, Fraenkel ND, Fattal-Valevski A, Jalas C, Anteby I, Shaag A, Dor T, Gillis D, Kerem E, Lees JA, Colas P, Elpeleg O.

Am J Med Genet A. 2018 Jan;176(1):92-98. doi: 10.1002/ajmg.a.38506. Epub 2017 Nov 12.

PMID:
29130579
5.

Detection of copy number variations in epilepsy using exome data.

Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N.

Clin Genet. 2018 Mar;93(3):577-587. doi: 10.1111/cge.13144. Epub 2018 Jan 25.

PMID:
28940419
6.

Treatment Response in Pediatric Patients With Pseudotumor Cerebri Syndrome.

Tovia E, Reif S, Oren A, Mitelpunkt A, Fattal-Valevski A.

J Neuroophthalmol. 2017 Dec;37(4):393-397. doi: 10.1097/WNO.0000000000000516.

PMID:
28787297
7.

The effect of subclinical infantile thiamine deficiency on motor function in preschool children.

Harel Y, Zuk L, Guindy M, Nakar O, Lotan D, Fattal-Valevski A.

Matern Child Nutr. 2017 Oct;13(4). doi: 10.1111/mcn.12397. Epub 2017 Jan 29.

PMID:
28133900
8.

Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.

Fox J, Ben-Shachar S, Uliel S, Svirsky R, Saitsu H, Matsumoto N, Fattal-Valevski A.

Am J Med Genet A. 2017 Mar;173(3):744-748. doi: 10.1002/ajmg.a.38027. Epub 2017 Jan 27.

PMID:
28127866
9.

Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

Fattal-Valevski A, Eliyahu H, Fraenkel ND, Elmaliach G, Hausman-Kedem M, Shaag A, Mandel D, Pines O, Elpeleg O.

Neurogenetics. 2017 Jan;18(1):57-61. doi: 10.1007/s10048-016-0507-z. Epub 2017 Jan 5.

PMID:
28058510
10.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS, Taylor RW.

Am J Hum Genet. 2016 Dec 1;99(6):1405. doi: 10.1016/j.ajhg.2016.11.001. No abstract available.

11.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW.

Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2016 Dec 1;99(6):1405.

12.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N.

Am J Hum Genet. 2016 Oct 6;99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005. Epub 2016 Sep 22.

13.

Cortical Reorganization following Injury Early in Life.

Artzi M, Shiran SI, Weinstein M, Myers V, Tarrasch R, Schertz M, Fattal-Valevski A, Miller E, Gordon AM, Green D, Ben Bashat D.

Neural Plast. 2016;2016:8615872. doi: 10.1155/2016/8615872. Epub 2016 May 19.

14.

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.

Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N.

J Hum Genet. 2016 May;61(5):451-5. doi: 10.1038/jhg.2015.163. Epub 2016 Jan 14.

PMID:
26763878
15.

Brain Plasticity following Intensive Bimanual Therapy in Children with Hemiparesis: Preliminary Evidence.

Weinstein M, Myers V, Green D, Schertz M, Shiran SI, Geva R, Artzi M, Gordon AM, Fattal-Valevski A, Ben Bashat D.

Neural Plast. 2015;2015:798481. doi: 10.1155/2015/798481. Epub 2015 Nov 10.

16.

Imaging Predictors of Improvement From a Motor Learning-Based Intervention for Children With Unilateral Cerebral Palsy.

Schertz M, Shiran SI, Myers V, Weinstein M, Fattal-Valevski A, Artzi M, Ben Bashat D, Gordon AM, Green D.

Neurorehabil Neural Repair. 2016 Aug;30(7):647-60. doi: 10.1177/1545968315613446. Epub 2015 Nov 11.

PMID:
26564999
17.

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

Edvardson S, Kose S, Jalas C, Fattal-Valevski A, Watanabe A, Ogawa Y, Mamada H, Fedick AM, Ben-Shachar S, Treff NR, Shaag A, Bale S, Gärtner J, Imamoto N, Elpeleg O.

J Med Genet. 2016 Feb;53(2):132-7. doi: 10.1136/jmedgenet-2015-103232. Epub 2015 Nov 6.

PMID:
26545878
18.

The Role of Prematurity in Patients With Hemiplegic Cerebral Palsy.

Zelnik N, Lahat E, Heyman E, Livne A, Schertz M, Sagie L, Fattal-Valevski A.

J Child Neurol. 2016 May;31(6):678-82. doi: 10.1177/0883073815610430. Epub 2015 Oct 23.

PMID:
26500242
19.

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.

J Neurol Neurosurg Psychiatry. 2016 Feb;87(2):212-6. doi: 10.1136/jnnp-2014-310084. Epub 2015 May 20.

PMID:
25995486
20.

Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.

Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Sagiv N, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Valevski A, Stern N.

Orphanet J Rare Dis. 2015 Apr 17;10:45. doi: 10.1186/s13023-015-0260-7.

21.

Broad Spectrum of c.2015 G>A Mutation in the GAA Gene Manifesting as a Mild Infantile Variant of Pompe Disease in Jordanian Patients.

Fattal-Valevski A, Sagi L, Kuzminsky A, Bali D.

J Neuromuscul Dis. 2015;2(s1):S41. No abstract available.

PMID:
27858635
22.

Thiamine deficiency in infancy: long-term follow-up.

Mimouni-Bloch A, Goldberg-Stern H, Strausberg R, Brezner A, Heyman E, Inbar D, Kivity S, Zvulunov A, Sztarkier I, Fogelman R, Fattal-Valevski A.

Pediatr Neurol. 2014 Sep;51(3):311-6. doi: 10.1016/j.pediatrneurol.2014.05.010. Epub 2014 May 15.

PMID:
25160536
23.

Is there a relationship between executive functions and academic success in children with neurofibromatosis type 1?

Gilboa Y, Rosenblum S, Fattal-Valevski A, Toledano-Alhadef H, Josman N.

Neuropsychol Rehabil. 2014;24(6):918-35. doi: 10.1080/09602011.2014.920262. Epub 2014 May 30.

PMID:
24875728
24.

MRI-based radiologic scoring system for extent of brain injury in children with hemiplegia.

Shiran SI, Weinstein M, Sirota-Cohen C, Myers V, Ben Bashat D, Fattal-Valevski A, Green D, Schertz M.

AJNR Am J Neuroradiol. 2014 Dec;35(12):2388-96. doi: 10.3174/ajnr.A3950. Epub 2014 May 22.

25.

Underlying mechanisms of writing difficulties among children with neurofibromatosis type 1.

Gilboa Y, Josman N, Fattal-Valevski A, Toledano-Alhadef H, Rosenblum S.

Res Dev Disabil. 2014 Jun;35(6):1310-6. doi: 10.1016/j.ridd.2014.03.021. Epub 2014 Mar 30.

PMID:
24691356
26.

Interhemispheric and intrahemispheric connectivity and manual skills in children with unilateral cerebral palsy.

Weinstein M, Green D, Geva R, Schertz M, Fattal-Valevski A, Artzi M, Myers V, Shiran S, Gordon AM, Gross-Tsur V, Bashat DB.

Brain Struct Funct. 2014 May;219(3):1025-40. doi: 10.1007/s00429-013-0551-5. Epub 2013 Apr 10.

PMID:
23571779
27.

A multi-site study of functional outcomes following a themed approach to hand-arm bimanual intensive therapy for children with hemiplegia.

Green D, Schertz M, Gordon AM, Moore A, Schejter Margalit T, Farquharson Y, Ben Bashat D, Weinstein M, Lin JP, Fattal-Valevski A.

Dev Med Child Neurol. 2013 Jun;55(6):527-33. doi: 10.1111/dmcn.12113. Epub 2013 Mar 5. Erratum in: Dev Med Child Neurol. 2016 Mar;58(3):316.

28.

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.

Nevo Y, Ben-Zeev B, Tabib A, Straussberg R, Anikster Y, Shorer Z, Fattal-Valevski A, Ta-Shma A, Aharoni S, Rabie M, Zenvirt S, Goldshmidt H, Fellig Y, Shaag A, Mevorach D, Elpeleg O.

Blood. 2013 Jan 3;121(1):129-35. doi: 10.1182/blood-2012-07-441857. Epub 2012 Nov 13.

29.

Does a normalizing electroencephalogram in benign childhood epilepsy with centrotemporal spikes abort attention deficit hyperactivity disorder?

Schneebaum-Sender N, Goldberg-Stern H, Fattal-Valevski A, Kramer U.

Pediatr Neurol. 2012 Oct;47(4):279-83. doi: 10.1016/j.pediatrneurol.2012.06.009. Review.

PMID:
22964442
30.

Auditory system dysfunction due to infantile thiamine deficiency: long-term auditory sequelae.

Attias J, Raveh E, Aizer-Dannon A, Bloch-Mimouni A, Fattal-Valevski A.

Audiol Neurootol. 2012;17(5):309-20. doi: 10.1159/000339356. Epub 2012 Jun 27.

PMID:
22739497
31.

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.

Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC.

J Med Genet. 2012 Jul;49(7):462-72. doi: 10.1136/jmedgenet-2012-100742. Epub 2012 Jun 20.

PMID:
22717650
32.

Seizures as the clinical presenting symptom in children with brain tumors.

Fattal-Valevski A, Nissan N, Kramer U, Constantini S.

J Child Neurol. 2013 Mar;28(3):292-6. doi: 10.1177/0883073812445786. Epub 2012 May 23.

PMID:
22628219
33.

Is the test of variables of attention reliable for the diagnosis of attention-deficit hyperactivity disorder (ADHD)?

Zelnik N, Bennett-Back O, Miari W, Goez HR, Fattal-Valevski A.

J Child Neurol. 2012 Jun;27(6):703-7. doi: 10.1177/0883073811423821. Epub 2012 Feb 28.

PMID:
22378668
34.

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.

Steenweg ME, Vanderver A, Ceulemans B, Prabhakar P, Régal L, Fattal-Valevski A, Richer L, Simonetti BG, Barkhof F, Rodenburg RJ, Pouwels PJ, van der Knaap MS.

Arch Neurol. 2012 Jun;69(6):718-22. doi: 10.1001/archneurol.2011.1048.

35.

Blood pressure values in 8-12 year old children with a history of intrauterine growth retardation.

Fattal-Valevski A, Bassan H, Bernheim J, Redianu B, Leitner Y, Harel S.

Isr Med Assoc J. 2011 Aug;13(8):480-4.

36.

Diagnostic delay of pediatric brain tumors in Israel: a retrospective risk factor analysis.

Shay V, Fattal-Valevski A, Beni-Adani L, Constantini S.

Childs Nerv Syst. 2012 Jan;28(1):93-100. doi: 10.1007/s00381-011-1564-0. Epub 2011 Aug 26.

PMID:
21870085
37.

Using a Virtual Classroom environment to describe the attention deficits profile of children with Neurofibromatosis type 1.

Gilboa Y, Rosenblum S, Fattal-Valevski A, Toledano-Alhadef H, Rizzo AS, Josman N.

Res Dev Disabil. 2011 Nov-Dec;32(6):2608-13. doi: 10.1016/j.ridd.2011.06.014. Epub 2011 Jul 14.

PMID:
21757320
38.

The prevalence of atypical presentations and comorbidities of benign childhood epilepsy with centrotemporal spikes.

Tovia E, Goldberg-Stern H, Ben Zeev B, Heyman E, Watemberg N, Fattal-Valevski A, Kramer U.

Epilepsia. 2011 Aug;52(8):1483-8. doi: 10.1111/j.1528-1167.2011.03136.x. Epub 2011 Jun 21.

39.

Pediatric temporal low-grade glial tumors: epilepsy outcome following resection in 48 children.

Uliel-Sibony S, Kramer U, Fried I, Fattal-Valevski A, Constantini S.

Childs Nerv Syst. 2011 Sep;27(9):1413-8. doi: 10.1007/s00381-011-1454-5. Epub 2011 Jun 21.

PMID:
21691825
40.

Gliomatosis cerebri presenting as idiopathic intracranial hypertension in a child.

Zunz E, Ben Sira L, Constantini S, Fattal-Valevski A, Yalon M, Roth J, Cagnano E, Kesler A.

J Neuroophthalmol. 2011 Dec;31(4):339-41. doi: 10.1097/WNO.0b013e31821a6d22.

PMID:
21566531
41.

The crucial role of thiamine in the development of syntax and lexical retrieval: a study of infantile thiamine deficiency.

Fattal I, Friedmann N, Fattal-Valevski A.

Brain. 2011 Jun;134(Pt 6):1720-39. doi: 10.1093/brain/awr068. Epub 2011 May 9.

PMID:
21558277
42.

Therapeutic hypothermia for asphyxiated newborns: experience of an Israeli tertiary center.

Landau Y, Berger I, Marom R, Mandel D, Ben Sira L, Fattal-Valevski A, Peylan T, Levi L, Dolberg S, Bassan H.

Isr Med Assoc J. 2011 Jan;13(1):29-33.

43.

Intrauterine growth-restricted neonates born at term or preterm: how different?

Bassan H, Stolar O, Geva R, Eshel R, Fattal-Valevski A, Leitner Y, Waron M, Jaffa A, Harel S.

Pediatr Neurol. 2011 Feb;44(2):122-30. doi: 10.1016/j.pediatrneurol.2010.09.012.

PMID:
21215912
44.

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs.

Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Amir-Levi Y, Katzburg S, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Stern N, Valevski A.

Mol Genet Metab. 2011 Mar;102(3):356-63. doi: 10.1016/j.ymgme.2010.11.163. Epub 2010 Dec 4.

PMID:
21185210
45.

Pediatric Neurologic Complications Associated With Influenza A H1N1.

Landau YE, Grisaru-Soen G, Reif S, Fattal-Valevski A.

Pediatr Neurol. 2011 Jan;44(1):47-51. doi: 10.1016/j.pediatrneurol.2010.08.011.

PMID:
21147387
46.

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O.

Am J Hum Genet. 2010 Nov 12;87(5):667-70. doi: 10.1016/j.ajhg.2010.09.016. Epub 2010 Oct 14.

47.

Botulinum toxin a injections to the upper limbs in children with cerebral palsy: duration of effect.

Fattal-Valevski A, Sagi L, Domenievitz D.

J Child Neurol. 2011 Feb;26(2):166-70. doi: 10.1177/0883073810376446. Epub 2010 Oct 6.

PMID:
20929909
48.

How to evaluate the child presenting with an apparent life-threatening event?

Weiss K, Fattal-Valevski A, Reif S.

Isr Med Assoc J. 2010 Mar;12(3):154-7.

49.

Upper extremity function and occupational performance in children with spastic cerebral palsy following lower extremity botulinum toxin injections.

Keren-Capelovitch T, Jarus T, Fattal-Valevski A.

J Child Neurol. 2010 Jun;25(6):694-700. doi: 10.1177/0883073809344621.

PMID:
20508235
50.

Botulinum toxin injections for pediatric patients with hereditary spastic paraparesis.

Geva-Dayan K, Domenievitz D, Zahalka R, Fattal-Valevski A.

J Child Neurol. 2010 Aug;25(8):969-75. doi: 10.1177/0883073809356037. Epub 2010 Apr 20.

PMID:
20406997

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