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Items: 1 to 50 of 106

1.

Proposal for a simplified classification of IMD based on a pathophysiological approach: a practical guide for clinicians.

Saudubray JM, Mochel F, Lamari F, Garcia Cazorla A.

J Inherit Metab Dis. 2019 Mar 18. doi: 10.1002/jimd.12086. [Epub ahead of print]

PMID:
30883825
2.

Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.

Genin EC, Madji Hounoum B, Bannwarth S, Fragaki K, Lacas-Gervais S, Mauri-Crouzet A, Lespinasse F, Neveu J, Ropert B, Augé G, Cochaud C, Lefebvre-Omar C, Bigou S, Chiot A, Mochel F, Boillée S, Lobsiger CS, Bohl D, Ricci JE, Paquis-Flucklinger V.

Acta Neuropathol. 2019 Mar 14. doi: 10.1007/s00401-019-01988-z. [Epub ahead of print]

PMID:
30874923
3.

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.

Synofzik M, Puccio H, Mochel F, Schöls L.

Neuron. 2019 Feb 20;101(4):560-583. doi: 10.1016/j.neuron.2019.01.049. Review.

PMID:
30790538
4.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.

PMID:
30773687
5.

Domino liver transplantation: the risk of disease recurrence.

Conti F, Mochel F, Calmus Y.

Clin Res Hepatol Gastroenterol. 2019 Feb 14. pii: S2210-7401(19)30032-4. doi: 10.1016/j.clinre.2019.01.004. [Epub ahead of print] No abstract available.

PMID:
30773354
6.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F.

Neurology. 2019 Mar 12;92(11):e1225-e1237. doi: 10.1212/WNL.0000000000007098. Epub 2019 Feb 8.

PMID:
30737337
7.

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.

Ward JM, Stoyas CA, Switonski PM, Ichou F, Fan W, Collins B, Wall CE, Adanyeguh I, Niu C, Sopher BL, Kinoshita C, Morrison RS, Durr A, Muotri AR, Evans RM, Mochel F, La Spada AR.

Cell Rep. 2019 Jan 29;26(5):1189-1202.e6. doi: 10.1016/j.celrep.2019.01.028.

8.

Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs.

Hannah-Shmouni F, Stratakis CA, Sechi A, Langeveld M, Hiwot TG, Tchan MC, Mochel F, Lynd LD, Sirrs S.

Lancet Diabetes Endocrinol. 2019 Feb;7(2):82-84. doi: 10.1016/S2213-8587(18)30369-3. No abstract available.

PMID:
30683215
9.

Making a 'JUMP' from paediatric to adult healthcare: A transitional program for young adults with chronic neurological disease.

Mc Govern EM, Maillart E, Bourgninaud M, Manzato E, Guillonnet C, Mochel F, Bourmaleau J, Lubetzki C, Baulac M, Roze E.

J Neurol Sci. 2018 Dec 15;395:77-83. doi: 10.1016/j.jns.2018.09.030. Epub 2018 Sep 26.

PMID:
30296734
10.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A.

Genet Med. 2018 Aug 31. doi: 10.1038/s41436-018-0143-0. [Epub ahead of print]

PMID:
30166628
11.

Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing.

Boland B, Yu WH, Corti O, Mollereau B, Henriques A, Bezard E, Pastores GM, Rubinsztein DC, Nixon RA, Duchen MR, Mallucci GR, Kroemer G, Levine B, Eskelinen EL, Mochel F, Spedding M, Louis C, Martin OR, Millan MJ.

Nat Rev Drug Discov. 2018 Sep;17(9):660-688. doi: 10.1038/nrd.2018.109. Epub 2018 Aug 17. Review.

PMID:
30116051
12.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases.

Codjia P, Ayrignac X, Mochel F, Mouzat K, Carra-Dalliere C, Castelnovo G, Ellie E, Etcharry-Bouyx F, Verny C, Belliard S, Hannequin D, Marelli C, Nadjar Y, Le Ber I, Dorboz I, Samaan S, Boespflug-Tanguy O, Lumbroso S, Labauge P.

AJNR Am J Neuroradiol. 2018 Sep;39(9):1657-1661. doi: 10.3174/ajnr.A5744. Epub 2018 Aug 16.

PMID:
30115677
13.

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration.

Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F.

Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098.

14.

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes.

Adanyeguh IM, Perlbarg V, Henry PG, Rinaldi D, Petit E, Valabregue R, Brice A, Durr A, Mochel F.

Neuroimage Clin. 2018 Jun 14;19:858-867. doi: 10.1016/j.nicl.2018.06.011. eCollection 2018.

15.

Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).

Chabrol B, Jacquin P, Francois L, Broué P, Dobbelaere D, Douillard C, Dubois S, Feillet F, Perrier A, Fouilhoux A, Labarthe F, Lamireau D, Mazodier K, Maillot F, Mochel F, Schiff M, Belmatoug N.

Arch Pediatr. 2018 Jun 15. pii: S0929-693X(18)30115-5. doi: 10.1016/j.arcped.2018.05.009. [Epub ahead of print]

PMID:
29914755
16.

The phenotype of adult versus pediatric patients with inborn errors of metabolism.

Saudubray JM, Mochel F.

J Inherit Metab Dis. 2018 Sep;41(5):753-756. doi: 10.1007/s10545-018-0209-9. Epub 2018 Jun 6.

17.

Lipids and synaptic functions.

Mochel F.

J Inherit Metab Dis. 2018 Nov;41(6):1117-1122. doi: 10.1007/s10545-018-0204-1. Epub 2018 Jun 4.

18.

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.

Giron C, Roze E, Degos B, Méneret A, Jardel C, Lannuzel A, Mochel F.

Tremor Other Hyperkinet Mov (N Y). 2018 Apr 18;8:554. doi: 10.7916/D8VM5VBQ. eCollection 2018.

19.

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.

Amador MDM, Masingue M, Debs R, Lamari F, Perlbarg V, Roze E, Degos B, Mochel F.

J Inherit Metab Dis. 2018 Sep;41(5):799-807. doi: 10.1007/s10545-018-0162-7. Epub 2018 Mar 20.

20.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network.

JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121.

21.

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.

Masingue M, Adanyeguh I, Tchikviladzé M, Maisonobe T, Jardel C, Galanaud D, Mochel F.

Mitochondrion. 2019 Mar;45:22-28. doi: 10.1016/j.mito.2018.02.001. Epub 2018 Feb 21.

PMID:
29474836
22.

Targeted versus untargeted omics - the CAFSA story.

Del Mar Amador M, Colsch B, Lamari F, Jardel C, Ichou F, Rastetter A, Sedel F, Jourdan F, Frainay C, Wevers RA, Roze E, Depienne C, Junot C, Mochel F.

J Inherit Metab Dis. 2018 May;41(3):447-456. doi: 10.1007/s10545-017-0134-3. Epub 2018 Feb 8.

PMID:
29423831
23.

Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult.

Mezouar N, Mochel F, An-Gourfinkel I, Baulac M, Gales A.

Rev Neurol (Paris). 2018 Mar;174(3):173-175. doi: 10.1016/j.neurol.2017.06.028. Epub 2018 Feb 1. No abstract available.

PMID:
29366491
24.

Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy.

Adanyeguh IM, Monin ML, Rinaldi D, Freeman L, Durr A, Lehéricy S, Henry PG, Mochel F.

NMR Biomed. 2018 Mar;31(3). doi: 10.1002/nbm.3880. Epub 2018 Jan 9.

25.

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F.

Brain. 2018 Jan 1;141(1):72-84. doi: 10.1093/brain/awx297.

PMID:
29228183
26.

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.

Schiffmann R, Wallace ME, Rinaldi D, Ledoux I, Luton MP, Coleman S, Akman HO, Martin K, Hogrel JY, Blankenship D, Turner J, Mochel F.

J Inherit Metab Dis. 2018 Sep;41(5):877-883. doi: 10.1007/s10545-017-0103-x. Epub 2017 Nov 6.

PMID:
29110179
27.

A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia.

Garali I, Adanyeguh IM, Ichou F, Perlbarg V, Seyer A, Colsch B, Moszer I, Guillemot V, Durr A, Mochel F, Tenenhaus A.

Brief Bioinform. 2018 Nov 27;19(6):1356-1369. doi: 10.1093/bib/bbx060.

PMID:
29106465
28.

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL Working Group.

Ann Neurol. 2017 Dec;82(6):892-899. doi: 10.1002/ana.25084. Epub 2017 Nov 21.

PMID:
29059497
29.

A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood.

Hainque E, Caillet S, Leroy S, Flamand-Roze C, Adanyeguh I, Charbonnier-Beaupel F, Retail M, Le Toullec B, Atencio M, Rivaud-Péchoux S, Brochard V, Habarou F, Ottolenghi C, Cormier F, Méneret A, Ruiz M, Doulazmi M, Roubergue A, Corvol JC, Vidailhet M, Mochel F, Roze E.

Orphanet J Rare Dis. 2017 Oct 2;12(1):160. doi: 10.1186/s13023-017-0713-2.

30.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rötig A, Delahodde A, Marlin S.

Am J Hum Genet. 2017 Oct 5;101(4):630-637. doi: 10.1016/j.ajhg.2017.09.007. Epub 2017 Sep 28.

31.

Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.

Weiss N, Mochel F, Rudler M, Demeret S, Lebray P, Conti F, Galanaud D, Ottolenghi C, Bonnefont JP, Dommergues M, Bernuau J, Thabut D.

J Hepatol. 2017 Sep 20. pii: S0168-8278(17)32289-4. doi: 10.1016/j.jhep.2017.09.009. [Epub ahead of print] Review.

PMID:
28939132
32.

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.

Dard R, Meyniel C, Touitou V, Stevanin G, Lamari F, Durr A, Ewenczyk C, Mochel F.

Eur J Med Genet. 2017 Dec;60(12):639-642. doi: 10.1016/j.ejmg.2017.08.015. Epub 2017 Aug 14.

PMID:
28818478
33.

Triheptanoin for the treatment of brain energy deficit: A 14-year experience.

Mochel F.

J Neurosci Res. 2017 Nov;95(11):2236-2243. doi: 10.1002/jnr.24111. Epub 2017 Jul 8. Review.

PMID:
28688166
34.

Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome.

Maranci JB, Roze E, Benoist JF, Mochel F, Rigal O, Arnulf I.

Sleep Med. 2017 Aug;36:184-185. doi: 10.1016/j.sleep.2017.05.001. Epub 2017 May 27. No abstract available.

PMID:
28629702
35.

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.

Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, Hentati F, Stevanin G, Amouri R, Durr A, Singleton AB.

Neurodegener Dis. 2017;17(4-5):208-212. doi: 10.1159/000464445. Epub 2017 May 31.

36.

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.

Gras D, Cousin C, Kappeler C, Fung CW, Auvin S, Essid N, Chung BH, Da Costa L, Hainque E, Luton MP, Petit V, Vuillaumier-Barrot S, Boespflug-Tanguy O, Roze E, Mochel F.

Ann Neurol. 2017 Jul;82(1):133-138. doi: 10.1002/ana.24970.

37.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A.

Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.

38.

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.

Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network.

Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081.

PMID:
28444220
39.

Imaging and spectroscopic approaches to probe brain energy metabolism dysregulation in neurodegenerative diseases.

Bonvento G, Valette J, Flament J, Mochel F, Brouillet E.

J Cereb Blood Flow Metab. 2017 Jun;37(6):1927-1943. doi: 10.1177/0271678X17697989. Epub 2017 Mar 9. Review.

40.

Low cancer prevalence in polyglutamine expansion diseases.

Coarelli G, Diallo A, Thion MS, Rinaldi D, Calvas F, Boukbiza OL, Tataru A, Charles P, Tranchant C, Marelli C, Ewenczyk C, Tchikviladzé M, Monin ML, Carlander B, Anheim M, Brice A, Mochel F, Tezenas du Montcel S, Humbert S, Durr A.

Neurology. 2017 Mar 21;88(12):1114-1119. doi: 10.1212/WNL.0000000000003725. Epub 2017 Feb 15.

PMID:
28202696
41.

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière JB, Thauvin-Robinet C, Beaudet AL, Faivre L.

Clin Genet. 2017 Aug;92(2):188-198. doi: 10.1111/cge.12985. Epub 2017 Mar 1.

PMID:
28155230
42.

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.

Masingue M, Adanyeguh I, Nadjar Y, Sedel F, Galanaud D, Mochel F.

Orphanet J Rare Dis. 2017 Feb 2;12(1):22. doi: 10.1186/s13023-017-0579-3.

43.

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V.

Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15.

44.

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.

Degos B, Nadjar Y, Amador Mdel M, Lamari F, Sedel F, Roze E, Couvert P, Mochel F.

Orphanet J Rare Dis. 2016 Apr 16;11:41. doi: 10.1186/s13023-016-0419-x.

45.

Myopathy with Deficiency of ISCU.

Mochel F, Haller RG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Mar 31 [updated 2016 Mar 3].

46.

Unexplicated hyperammonemic encephalopathy: remember the old urinary diversions!

Champigneulle B, Jamme M, Knebelmann B, Mochel F, Mira JP.

Acta Neurol Belg. 2016 Dec;116(4):677-678. Epub 2016 Feb 1. No abstract available.

PMID:
26830648
47.

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Héron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E.

J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3.

48.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.

Sirrs S, Hollak C, Merkel M, Sechi A, Glamuzina E, Janssen MC, Lachmann R, Langendonk J, Scarpelli M, Ben Omran T, Mochel F; SFEIM-A Study Group, Tchan MC.

JIMD Rep. 2016;27:85-91. doi: 10.1007/8904_2015_435. Epub 2015 Oct 9.

49.

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F.

Dev Med Child Neurol. 2015 Dec;57(12):1183-6. doi: 10.1111/dmcn.12927. Epub 2015 Sep 23.

50.

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Coutelier M, Mochel F, Saudubray JM, Ottolenghi C, Stevanin G.

Brain. 2016 Jan;139(Pt 1):e4. doi: 10.1093/brain/awv248. Epub 2015 Aug 21. No abstract available.

PMID:
26297557

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