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1.

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Mo, Alisa; Saffari, Afshin; Kellner, Melanie; Döbler-Neumann, Marion; Jordan, Catherine; Srivastava, Siddharth; Zhang, Bo; Sahin, Mustafa; Fink, John K; Smith, Linsley; Posey, Jennifer E; Alter, Katharine E; Toro, Camilo; Blackstone, Craig; Soldatos, Ariane G; Christie, Michelle; Schüle, Rebecca; Ebrahimi-Fakhari, Darius.

Mov Disord; 37(12): 2440-2446, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36103453

2.

Primary lateral sclerosis: consensus diagnostic criteria.

Turner, Martin R; Barohn, Richard J; Corcia, Philippe; Fink, John K; Harms, Matthew B; Kiernan, Matthew C; Ravits, John; Silani, Vincenzo; Simmons, Zachary; Statland, Jeffrey; van den Berg, Leonard H; Mitsumoto, Hiroshi.

J Neurol Neurosurg Psychiatry; 91(4): 373-377, 2020 04.

Artículo en Inglés | MEDLINE | ID: mdl-32029539

3.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Boone, Philip M; Yuan, Bo; Campbell, Ian M; Scull, Jennifer C; Withers, Marjorie A; Baggett, Brett C; Beck, Christine R; Shaw, Christine J; Stankiewicz, Pawel; Moretti, Paolo; Goodwin, Wendy E; Hein, Nichole; Fink, John K; Seong, Moon-Woo; Seo, Soo Hyun; Park, Sung Sup; Karbassi, Izabela D; Batish, Sat Dev; Ordóñez-Ugalde, Andrés; Quintáns, Beatriz; Sobrido, María-Jesús; Stemmler, Susanne; Lupski, James R.

Am J Hum Genet; 95(2): 143-61, 2014 Aug 07.

Artículo en Inglés | MEDLINE | ID: mdl-25065914

4.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Hufnagel, Robert B; Arno, Gavin; Hein, Nichole D; Hersheson, Joshua; Prasad, Megana; Anderson, Yvonne; Krueger, Laura A; Gregory, Louise C; Stoetzel, Corinne; Jaworek, Thomas J; Hull, Sarah; Li, Abi; Plagnol, Vincent; Willen, Christi M; Morgan, Thomas M; Prows, Cynthia A; Hegde, Rashmi S; Riazuddin, Saima; Grabowski, Gregory A; Richardson, Rudy J; Dieterich, Klaus; Huang, Taosheng; Revesz, Tamas; Martinez-Barbera, J P; Sisk, Robert A; Jefferies, Craig; Houlden, Henry; Dattani, Mehul T; Fink, John K; Dollfus, Helene; Moore, Anthony T; Ahmed, Zubair M.

J Med Genet; 52(2): 85-94, 2015 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-25480986

5.

Hereditary spastic paraplegia: clinical principles and genetic advances.

Fink, John K.

Semin Neurol; 34(3): 293-305, 2014 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25192507

6.

Further studies toward a mouse model for biochemical assessment of neuropathic potential of organophosphorus compounds.

Makhaeva, Galina F; Rudakova, Elena V; Hein, Nichole D; Serebryakova, Olga G; Kovaleva, Nadezhda V; Boltneva, Natalia P; Fink, John K; Richardson, Rudy J.

J Appl Toxicol; 34(12): 1426-35, 2014 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-24395470

7.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Landouré, Guida; Zhu, Peng-Peng; Lourenço, Charles M; Johnson, Janel O; Toro, Camilo; Bricceno, Katherine V; Rinaldi, Carlo; Meilleur, Katherine G; Sangaré, Modibo; Diallo, Oumarou; Pierson, Tyler M; Ishiura, Hiroyuki; Tsuji, Shoji; Hein, Nichole; Fink, John K; Stoll, Marion; Nicholson, Garth; Gonzalez, Michael A; Speziani, Fiorella; Dürr, Alexandra; Stevanin, Giovanni; Biesecker, Leslie G; Accardi, John; Landis, Dennis M D; Gahl, William A; Traynor, Bryan J; Marques, Wilson; Züchner, Stephan; Blackstone, Craig; Fischbeck, Kenneth H; Burnett, Barrington G.

Hum Mutat; 34(10): 1357-60, 2013 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-23857908

8.

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Fink, John K.

Acta Neuropathol; 126(3): 307-28, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23897027

9.

The hereditary spastic paraplegias.

Fink, John K.

Handb Clin Neurol; 196: 59-88, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37620092

10.

Call for participation in the neurogenetics consortium within the Human Variome Project.

Haworth, Andrea; Bertram, Lars; Carrera, Paola; Elson, Joanna L; Braastad, Corey D; Cox, Diane W; Cruts, Marc; den Dunnen, Johann T; Farrer, Matthew J; Fink, John K; Hamed, Sherifa A; Houlden, Henry; Johnson, Dennis R; Nuytemans, Karen; Palau, Francesc; Rayan, Dipa L Raja; Robinson, Peter N; Salas, Antonio; Schüle, Birgitt; Sweeney, Mary G; Woods, Michael O; Amigo, Jorge; Cotton, Richard G H; Sobrido, Maria-Jesus.

Neurogenetics; 12(3): 169-73, 2011 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-21630033

11.

Neuropathy target esterase gene mutations cause motor neuron disease.

Rainier, Shirley; Bui, Melanie; Mark, Erin; Thomas, Donald; Tokarz, Debra; Ming, Lei; Delaney, Colin; Richardson, Rudy J; Albers, James W; Matsunami, Nori; Stevens, Jeff; Coon, Hilary; Leppert, Mark; Fink, John K.

Am J Hum Genet; 82(3): 780-5, 2008 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-18313024

12.

Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.

Rainier, Shirley; Albers, James W; Dyck, Peter J; Eldevik, O Petter; Wilcock, Sandra; Richardson, Rudy J; Fink, John K.

Muscle Nerve; 43(1): 19-25, 2011 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-21171093

13.

Hereditary Myelopathies.

Fink, John K.

Continuum (Minneap Minn); 27(1): 185-204, 2021 02 01.

Artículo en Inglés | MEDLINE | ID: mdl-33522742

14.

An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome.

Dhoot, Roshni; Payne, Katelyn; Fink, John K; Pascuzzi, Robert M.

Case Rep Neurol; 12(2): 165-168, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-32595478

15.

Neuropathy target esterase (NTE/PNPLA6) and organophosphorus compound-induced delayed neurotoxicity (OPIDN).

Richardson, Rudy J; Fink, John K; Glynn, Paul; Hufnagel, Robert B; Makhaeva, Galina F; Wijeyesakere, Sanjeeva J.

Adv Neurotoxicol; 4: 1-78, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-32518884

16.

The clinical spectrum of primary lateral sclerosis.

Barohn, Richard J; Fink, John K; Heiman-Patterson, Terry; Huey, Edward D; Murphy, Jennifer; Statland, Jeffrey M; Turner, Martin R; Elman, Lauren.

Amyotroph Lateral Scler Frontotemporal Degener; 21(sup1): 3-10, 2020 11.

Artículo en Inglés | MEDLINE | ID: mdl-33602013

17.

Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.

Albin, Roger L; Koeppe, Robert A; Rainier, Shirley; Fink, John K.

J Neurogenet; 22(4): 289-94, 2008.

Artículo en Inglés | MEDLINE | ID: mdl-19085270

18.

Rare treatable neurologic diseases.

Lorincz, Matthew T; Fink, John K.

Semin Neurol; 32(5): 489-90, 2012 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-23677655

19.

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

Rainier, Shirley; Sher, Carron; Reish, Orit; Thomas, Donald; Fink, John K.

Arch Neurol; 63(3): 445-7, 2006 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-16533974

20.

Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.

Brewer, George J; Askari, Fred; Lorincz, Matthew T; Carlson, Martha; Schilsky, Michael; Kluin, Karen J; Hedera, Peter; Moretti, Paolo; Fink, John K; Tankanow, Roberta; Dick, Robert B; Sitterly, Julia.

Arch Neurol; 63(4): 521-7, 2006 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-16606763

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Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Primary lateral sclerosis: consensus diagnostic criteria.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Hereditary spastic paraplegia: clinical principles and genetic advances.

Further studies toward a mouse model for biochemical assessment of neuropathic potential of organophosphorus compounds.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

The hereditary spastic paraplegias.

Call for participation in the neurogenetics consortium within the Human Variome Project.

Neuropathy target esterase gene mutations cause motor neuron disease.

Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.

Hereditary Myelopathies.

An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome.

Neuropathy target esterase (NTE/PNPLA6) and organophosphorus compound-induced delayed neurotoxicity (OPIDN).

The clinical spectrum of primary lateral sclerosis.

Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.

Rare treatable neurologic diseases.

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.