247 related articles for article (PubMed ID: 10686465)
21. [Hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy].
Hattori A; Sasaki M; Sakuma H; Saito Y; Komaki H; Nakagawa E; Sugai K
No To Hattatsu; 2010 Nov; 42(6):454-7. PubMed ID: 21077357
[TBL] [Abstract][Full Text] [Related]
22. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C; Latypova X; Rollier P; Khan TN; Stamberger H; McWalter K; Cho MT; Kjaergaard S; Weckhuysen S; Lesca G; Besnard T; Õunap K; Schema L; Chiocchetti AG; McDonald M; de Bellescize J; Vincent M; Van Esch H; Sattler S; Forghani I; Thiffault I; Freitag CM; Barbouth DS; Cadieux-Dion M; Willaert R; Guillen Sacoto MJ; Safina NP; Dubourg C; Grote L; Carré W; Saunders C; Pajusalu S; Farrow E; Boland A; Karlowicz DH; Deleuze JF; Wojcik MH; Pressman R; Isidor B; Vogels A; Van Paesschen W; Al-Gazali L; Al Shamsi AM; Claustres M; Pujol A; Sanders SJ; Rivier F; Leboucq N; Cogné B; Sasorith S; Sanlaville D; Retterer K; Odent S; Katsanis N; Bézieau S; Koenig M; Davis EE; Pasquier L; Küry S
Am J Hum Genet; 2018 May; 102(5):744-759. PubMed ID: 29656859
[TBL] [Abstract][Full Text] [Related]
23. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Le Ber I; Moreira MC; Rivaud-Péchoux S; Chamayou C; Ochsner F; Kuntzer T; Tardieu M; Saïd G; Habert MO; Demarquay G; Tannier C; Beis JM; Brice A; Koenig M; Dürr A
Brain; 2003 Dec; 126(Pt 12):2761-72. PubMed ID: 14506070
[TBL] [Abstract][Full Text] [Related]
24. [Carcinomatous neuropathy: clinical and pathologic findings of sural nerve biopsy in 7 cases].
Guo YP
Zhonghua Shen Jing Jing Shen Ke Za Zhi; 1989 Aug; 22(4):216-9, 253-4. PubMed ID: 2559834
[TBL] [Abstract][Full Text] [Related]
25. [Mutation of the aprataxin gene presenting with Charcot-Marie-Tooth-like neuropathy and cerebellar ataxia].
Ochsner F; Le Ber I; Said G; Moreira MC; Michel P; Koenig M; Dürr A; Brice A; Kuntzer T
Rev Neurol (Paris); 2005 Mar; 161(3):331-6. PubMed ID: 15800456
[TBL] [Abstract][Full Text] [Related]
26. Autonomic nerve calcification and peripheral neuropathy in olivopontocerebellar atrophy.
Staal A; Stefanko SZ; Busch HF; Jennekens FG; De Bruinj WC
J Neurol Sci; 1981 Sep; 51(3):383-94. PubMed ID: 7276985
[TBL] [Abstract][Full Text] [Related]
27. [Marinesco-Sjögren syndrome associated with peripheral nerve involvement--report of three cases in a family (author's transl)].
Yamanaga H; Ideta T; Okajima T; Morimoto K; Nagaki J
Rinsho Shinkeigaku; 1980 May; 20(5):326-32. PubMed ID: 6250757
[No Abstract] [Full Text] [Related]
28. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
Trudeau MM; Dalton JC; Day JW; Ranum LP; Meisler MH
J Med Genet; 2006 Jun; 43(6):527-30. PubMed ID: 16236810
[TBL] [Abstract][Full Text] [Related]
29. Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity.
Sabatelli M; Mignogna T; Lippi G; Servidei S; Zollino M; Padua L; Lo Monaco M; De Armas L; Mereu ML; Tonali P
Am J Med Genet; 1998 Jan; 75(3):309-13. PubMed ID: 9475604
[TBL] [Abstract][Full Text] [Related]
30. Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a clinicopathological report.
Baraitser M; Gooddy W; Halliday AM; Harding AE; Rudge P; Scaravilli F
J Neurol Neurosurg Psychiatry; 1984 Jan; 47(1):21-5. PubMed ID: 6319613
[TBL] [Abstract][Full Text] [Related]
31. Behr's syndrome. A family exhibiting pseudodominant inheritance.
Thomas PK; Workman JM; Thage O
J Neurol Sci; 1984 May; 64(2):137-48. PubMed ID: 6747661
[TBL] [Abstract][Full Text] [Related]
32. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.
Kawarai T; Tajima A; Kuroda Y; Saji N; Orlacchio A; Terasawa H; Shimizu H; Kita Y; Izumi Y; Mitsui T; Imoto I; Kaji R
J Neurol Neurosurg Psychiatry; 2016 Jun; 87(6):656-62. PubMed ID: 26157035
[TBL] [Abstract][Full Text] [Related]
33. Phenotypic characterization of hypomyelination and congenital cataract.
Biancheri R; Zara F; Bruno C; Rossi A; Bordo L; Gazzerro E; Sotgia F; Pedemonte M; Scapolan S; Bado M; Uziel G; Bugiani M; Lamba LD; Costa V; Schenone A; Rozemuller AJ; Tortori-Donati P; Lisanti MP; van der Knaap MS; Minetti C
Ann Neurol; 2007 Aug; 62(2):121-7. PubMed ID: 17683097
[TBL] [Abstract][Full Text] [Related]
34. Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family.
Sekijima Y; Ohara S; Nakagawa S; Tabata K; Yoshida K; Ishigame H; Shimizu Y; Yanagisawa N
J Neurol Sci; 1998 Jun; 158(1):30-7. PubMed ID: 9667774
[TBL] [Abstract][Full Text] [Related]
35. Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.
Watanabe M; Sugai Y; Concannon P; Koenig M; Schmitt M; Sato M; Shizuka M; Mizushima K; Ikeda Y; Tomidokoro Y; Okamoto K; Shoji M
Ann Neurol; 1998 Aug; 44(2):265-9. PubMed ID: 9708552
[TBL] [Abstract][Full Text] [Related]
36. Diagnostic yield of testing for
Van Daele SH; Vermeer S; Van Eesbeeck A; Lannoo L; Race V; van Damme P; Claeys K; Vandenberghe W
J Neurol Neurosurg Psychiatry; 2020 Nov; 91(11):1233-1234. PubMed ID: 32732387
[No Abstract] [Full Text] [Related]
37. [Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients].
Pascual-Castroviejo I; Pascual-Pascual SI; Quijano-Roy S; Gutiérrez-Molina M; Morales MC; Velázquez-Fragua R; Maties M
Rev Neurol; 2006 Jun 16-30; 42(12):723-8. PubMed ID: 16775797
[TBL] [Abstract][Full Text] [Related]
38. Pathology and pathogenesis of sensory neuropathy in Friedreich's ataxia.
Morral JA; Davis AN; Qian J; Gelman BB; Koeppen AH
Acta Neuropathol; 2010 Jul; 120(1):97-108. PubMed ID: 20339857
[TBL] [Abstract][Full Text] [Related]
39. Atypical presentation of ataxia-oculomotor apraxia type 1.
Shahwan A; Byrd PJ; Taylor AM; Nestor T; Ryan S; King MD
Dev Med Child Neurol; 2006 Jun; 48(6):529-32. PubMed ID: 16700949
[TBL] [Abstract][Full Text] [Related]
40. Friedreich's ataxia: clinical aspects and pathogenesis.
Pandolfo M
Semin Neurol; 1999; 19(3):311-21. PubMed ID: 12194387
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
