نتائج البحث

Vitamin D 3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.

• Authors : Ehnert S; Siegfried Weller Research Institute at the BG Unfallklinik Tübingen, Department of Trauma and Reconstructive Surgery, University of Tübingen, Schnarrenbergstr. 95, 72076, Tübingen, Germany.; Hauser S

Subjects: Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/genetics ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/metabolism ; Oxysterols*

• Source: Scientific reports [Sci Rep] 2024 Mar 27; Vol. 14 (1), pp. 7335. Date of Electronic Publication: 2024 Mar 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.

• Authors : Alecu JE; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Saffari A

Subjects: Psychotic Disorders*/Psychotic Disorders*/Psychotic Disorders*/genetics ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/genetics; Adolescent

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Apr; Vol. 9 (4), pp. 570-576. Date of Electronic Publication: 2022 Mar 16.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.

• Authors : Hayakawa M; Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, 1-2-3 Jujodai Kita-ku, Tokyo, 114-0033, Japan.; Matsubara T

Subjects: Corpus Callosum* ; Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/Spastic Paraplegia, Hereditary*/genetics; Adolescent

• Source: BMC neurology [BMC Neurol] 2022 Jan 03; Vol. 22 (1), pp. 2. Date of Electronic Publication: 2022 Jan 03.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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SPG8 mutations in Italian families: clinical data and literature review.

• Authors : Ginanneschi F; Department of Medical, Surgical and Neurological Sciences, University of Siena, Policlinico Le Scotte. Viale Bracci 1, 53100, Siena, Italy. .; D'Amore A

Subjects: Paraplegia/Paraplegia/Paraplegia/*genetics ; Paraplegia/Paraplegia/Paraplegia/*physiopathology ; Proteins/Proteins/Proteins/*genetics Spastic Paraplegia Type 8

• Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Mar; Vol. 41 (3), pp. 699-703. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A case report of SPG11 mutations in a Chinese ARHSP-TCC family.

• Authors : Zhang L; Department of Neurology, China-Japan Friendship Hospital, 2 Yinghua Dongjie, Hepingli, 100029, Beijing, China.; McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, United States of America.

Subjects: Mutation*; Asian People/Asian People/Asian People/*genetics ; Proteins/Proteins/Proteins/*genetics

• Source: BMC neurology [BMC Neurol] 2016 Jun 03; Vol. 16, pp. 87. Date of Electronic Publication: 2016 Jun 03.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.

• Authors : Cafforio G; Department of Neuroscience O U of Neurology, S Chiara Hospital, University of Pisa, Pisa, Italy.; Calabrese R

Subjects: GTP-Binding Protein gamma Subunits/GTP-Binding Protein gamma Subunits/GTP-Binding Protein gamma Subunits/*genetics ; Hereditary Sensory and Motor Neuropathy/Hereditary Sensory and Motor Neuropathy/Hereditary Sensory and Motor Neuropathy/*genetics ; Movement Disorders/Movement Disorders/Movement Disorders/*genetics

• Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2008 Jun; Vol. 29 (3), pp. 189-91. DatePublisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings.

• Authors : Okuda B; Division of Neurology, Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya, Japan. ; Iwamoto Y

Subjects: Agenesis of Corpus Callosum*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Cataract/Cataract/Cataract/*congenital

• Source: Acta neurologica Scandinavica [Acta Neurol Scand] 2002 Oct; Vol. 106 (4), pp. 222-4.Publisher: Wiley-Blackwell Country of Publication: Denmark NLM ID: 0370336 Publication Model: Print Cited Medium: Print ISSN: 0001-6314 (Print)

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Physiotherapy in Hereditary Spastic Paraplegia

• Authors : Prof. Dr. Ludger Schöls, Principal Investigator

• Source: Design and Validation of a Modular Physiotherapy Concept for the Treatment of Hereditary Spastic Spinal Paralysis (HSP) - a Randomized StudySchule R, Holland-Letz

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Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

• Authors : Julian E. Alecu; Afshin Saffari; Hellen Jumo

Subjects: Adolescent; Psychotic Disorders; Calpain

• Source: Annals of Clinical and Translational Neurology. 9:570-576

تفاصيل العنوان

Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings

• Authors : B, Okuda; Y, Iwamoto; H, Tachibana

Subjects: Adult; Male; Spastic Paraplegia, Hereditary

• Source: Acta neurologica Scandinavica. 106(4)

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